DSD
MCID: SXD002
MIFTS: 45

Sex Development Disorder (DSD)

Categories: Endocrine diseases, Fetal diseases, Metabolic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Sex Development Disorder

MalaCards integrated aliases for Sex Development Disorder:

Name: Sex Development Disorder 12 15
Disorder of Sex Development 58 39
Disorders of Sex Development 43
Sex Differentiation Disease 12
Dsd 58

Classifications:

Orphanet: 58  
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:1923
MeSH 43 D012734
MESH via Orphanet 44 D012734
UMLS via Orphanet 72 C0036875
Orphanet 58 ORPHA90771
UMLS 71 C0036875

Summaries for Sex Development Disorder

MalaCards based summary : Sex Development Disorder, also known as disorder of sex development, is related to aromatase deficiency and leydig cell hypoplasia. An important gene associated with Sex Development Disorder is SHBG (Sex Hormone Binding Globulin), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Prolactin Signaling Pathway. The drugs Follicle Stimulating Hormone and Chorionic Gonadotropin have been mentioned in the context of this disorder. Affiliated tissues include pituitary, prostate and bone, and related phenotypes are endocrine/exocrine gland and cellular

Wikipedia : 74 Disorders of sex development (DSDs) are medical conditions involving the reproductive system. More... more...

Related Diseases for Sex Development Disorder

Diseases in the Sex Development Disorder family:

46,xx Disorder of Sex Development 46,xy Disorder of Sex Development Due to a Cholesterol Synthesis Defect
46,xy Disorder of Sex Development Due to Impaired Androgen Production 46,xy Disorder of Sex Development Due to Testicular Steroidogenesis Defect
46,xy Disorder of Sex Development Due to Adrenal and Testicular Steroidogenesis Defect 46,xy Disorder of Sex Development Due to a Testosterone Synthesis Defect
46,xy Disorder of Sex Development Due to a Defect in Testosterone Metabolism by Peripheral Tissue Syndrome with 46,xy Disorder of Sex Development

Diseases related to Sex Development Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 388, show less)
# Related Disease Score Top Affiliating Genes
1 aromatase deficiency 34.1 INS GNRH1 CYP19A1
2 leydig cell hypoplasia 33.8 LHCGR HSD17B3
3 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 33.0 POMC HSD3B2 HSD17B3 CYP21A2 CYP17A1 CYP11A1
4 androgen insensitivity, partial 33.0 SHBG CYP19A1 AR
5 mixed gonadal dysgenesis 32.7 NR5A1 CYP21A2 AMHR2 AMH
6 pseudovaginal perineoscrotal hypospadias 32.6 SRD5A2 LHCGR GNRH1 CYP17A1 AR
7 persistent mullerian duct syndrome 32.4 SRD5A2 NR5A1 INSL3 AMHR2 AMH
8 gonadal dysgenesis 31.8 SHBG NR5A1 AMHR2 AMH
9 46 xy gonadal dysgenesis 31.6 SRD5A2 SHBG NR5A1 HSD3B2 HSD17B3 CYP21A2
10 complete androgen insensitivity syndrome 31.5 SHBG CYP19A1 AR
11 gynecomastia 31.4 SRD5A2 SHBG PRL POMC HSD17B3 GNRH1
12 47, xxy 31.2 SHBG AR
13 gender identity disorder 30.9 CYP19A1 CYP17A1 AR
14 turner syndrome 30.8 SHBG PRL INS IGF1 CYP21A2 AR
15 hermaphroditism 30.7 SRD5A2 SHBG NR5A1 AR AMHR2 AMH
16 hypoactive sexual desire disorder 30.7 SHBG CYP19A1
17 male infertility 30.6 SHBG GNRH1 CYP21A2 CYP19A1 AR
18 hypogonadotropism 30.6 PRL GNRH1
19 hypogonadism 30.6 SHBG PRL LHCGR INS IGF1 GNRH1
20 oligospermia 30.6 SRD5A2 PRL AR
21 ovarian cyst 30.6 PRL GNRH1 CYP19A1 AMH
22 cytochrome p450 oxidoreductase deficiency 30.4 POMC CYP21A2 CYP17A1
23 precocious puberty 30.4 LHCGR GNRH1 CYP21A2 CYP19A1
24 premature menopause 30.4 GNRH1 CYP19A1 AMH
25 adenomyosis 30.3 PRL GNRH1 CYP19A1
26 infertility 30.3 SHBG PRL NR5A1 LHCGR INSL3 GNRH1
27 endometrial hyperplasia 30.3 CYP19A1 CYP17A1 AR
28 anorchia 30.3 NR5A1 INSL3
29 sexual disorder 30.3 SHBG PRL POMC INS GNRH1 AR
30 smith-lemli-opitz syndrome 30.3 CYP19A1 CYP17A1 CYP11A1
31 hypokalemia 30.3 POMC INS CYP17A1
32 gonadal disease 30.2 POMC NR5A1 IGF1 GNRH1 AMH
33 persistent mullerian duct syndrome, types i and ii 30.1 AMHR2 AMH
34 pituitary hormone deficiency, combined, 2 30.1 PRL POMC INS IGF1 GNRH1
35 testicular disease 30.1 SHBG INSL3 GNRH1 AR AMH
36 androgen insensitivity syndrome 30.1 SRD5A2 SHBG NR5A1 INS HSD17B3 AR
37 antley-bixler syndrome 30.1 POMC CYP21A2 CYP19A1 CYP17A1 CYP11A1
38 suppression of tumorigenicity 12 30.1 SRD5A2 IGF1 GNRH1 CYP17A1 AR
39 impotence 30.0 SHBG PRL POMC INS GNRH1 AR
40 amenorrhea 30.0 SHBG PRL POMC NR5A1 LHCGR INS
41 psychosexual disorder 30.0 SHBG PRL
42 luteoma 30.0 SHBG PRL GNRH1 CYP21A2 CYP19A1 AMHR2
43 hypogonadotropic hypogonadism 29.5 SHBG PRL NR5A1 LHCGR INSL3 INS
44 leydig cell tumor 29.2 PRL NR5A1 LHCGR INSL3 GNRH1 CYP21A2
45 pseudohermaphroditism 29.1 SRD5A2 POMC NR5A1 LHCGR INSL3 HSD3B2
46 hypospadias 29.1 SRD5A2 NR5A1 LHCGR INSL3 HSD3B2 HSD17B3
47 premature ovarian failure 1 29.0 SHBG PRL POMC NR5A1 LHCGR INS
48 hyperandrogenism 28.9 SHBG PRL POMC INSL3 INS IGF1
49 lipoid congenital adrenal hyperplasia 28.8 SHBG PRL POMC NR5A1 INS HSD3B2
50 polycystic ovary syndrome 28.5 SHBG PRL POMC INS IGF1 HSD3B2
51 cryptorchidism, unilateral or bilateral 27.6 SRD5A2 SHBG PRL POMC NR5A1 LHCGR
52 46,xx disorder of sex development 12.6
53 nonsyndromic 46,xx testicular disorders of sex development 12.6
54 sex chromosome disorder of sex development 12.6
55 46,xy ovotesticular disorder of sex development 12.6
56 46,xx sex reversal 1 12.5
57 syndrome with disorder of sex development of gynecological interest 12.5
58 dysmorphism-short stature-deafness-disorder of sex development syndrome 12.4
59 46,xx disorder of sex development-anorectal anomalies syndrome 12.4
60 genetic 46,xx disorder of sex development 12.4
61 genetic disorder of sex development 12.4
62 genetic 46,xy disorder of sex development of endocrine origin 12.4
63 genetic 46,xy disorder of sex development 12.4
64 genetic disorder of sex development of gynecological interest 12.4
65 46,xy disorder of sex development of gynecological interest 12.4
66 46,xy disorder of sex development due to a cholesterol synthesis defect 12.4
67 46,xy disorder of sex development due to impaired androgen production 12.4
68 46,xy disorder of sex development induced by maternal exposure to endocrine disruptors 12.4
69 46,xy disorder of sex development of endocrine origin 12.4
70 46,xx disorder of sex development induced by exogenous maternal-derived androgen 12.4
71 46,xx disorder of sex development induced by endogenous maternal-derived androgen 12.4
72 46,xx disorder of sex development induced by fetoplacental androgens excess 12.4
73 46,xy disorder of sex development due to testicular steroidogenesis defect 12.4
74 46,xy disorder of sex development due to adrenal and testicular steroidogenesis defect 12.4
75 46,xy disorder of sex development due to a testosterone synthesis defect 12.4
76 46,xx disorder of sex development induced by fetal androgens excess 12.4
77 46,xx disorder of sex development induced by maternal-derived androgen 12.4
78 46,xy disorder of sex development due to a defect in testosterone metabolism by peripheral tissue 12.4
79 46,xx disorder of sex development induced by androgens excess 12.4
80 46,xy sex reversal 5 12.1
81 diaphanospondylodysostosis 12.1
82 leydig cell hypoplasia, type i 11.9
83 46,xy sex reversal 8 11.9
84 denys-drash syndrome 11.7
85 46,xy sex reversal 2 11.7
86 hypogonadotropic hypogonadism 23 without anosmia 11.7
87 chondrodysplasia-pseudohermaphroditism syndrome 11.6
88 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency 11.4
89 pseudohermaphroditism, female, with skeletal anomalies 11.4
90 17-beta hydroxysteroid dehydrogenase iii deficiency 11.4
91 male pseudohermaphroditism/mental retardation syndrome, verloes type 11.4
92 pontocerebellar hypoplasia, type 7 11.4
93 male pseudohermaphroditism intellectual disability syndrome, verloes type 11.4
94 46, xy disorders of sexual development 11.4
95 hypertrophic neuropathy of dejerine-sottas 11.3
96 premature ovarian failure 7 11.3
97 46,xy sex reversal 10 11.3
98 palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal 11.3
99 46,xy sex reversal 6 11.3
100 46,xy sex reversal 7 11.0
101 testicular anomalies with or without congenital heart disease 11.0
102 46,xy sex reversal 9 11.0
103 mullerian aplasia and hyperandrogenism 11.0
104 prostate adenoid cystic carcinoma 10.7 POMC AR
105 inhibited female orgasm 10.7 SHBG PRL
106 adenohypophysitis 10.6 PRL POMC
107 secondary adrenal insufficiency 10.6 INS IGF1
108 acth-dependent cushing syndrome 10.6 PRL POMC
109 tuberculum sellae meningioma 10.6 PRL POMC
110 sella turcica neoplasm 10.6 PRL POMC
111 galactorrhea 10.6 PRL IGF1
112 prolactin producing pituitary tumor 10.6 PRL POMC
113 postmenopausal atrophic vaginitis 10.6 SHBG GNRH1 CYP19A1
114 graves disease 1 10.6 SHBG POMC INS
115 hypothalamic obesity 10.6 INS IGF1
116 salpingitis isthmica nodosa 10.6 PRL GNRH1 AMH
117 myoma 10.6 GNRH1 CYP19A1 AMH
118 mixed cerebral palsy 10.6 SHBG PRL GNRH1
119 leiomyoma 10.6 GNRH1 CYP19A1 CYP17A1
120 hypoadrenalism 10.6 SHBG POMC
121 benign essential hypertension 10.6 PRL POMC INS
122 chromophobe adenoma 10.6 PRL POMC
123 lactocele 10.6 PRL LHCGR
124 3-beta-hydroxysteroid dehydrogenase deficiency 10.6 HSD3B2 CYP21A2
125 pituitary-dependent cushing's disease 10.6 PRL POMC GNRH1
126 pelvic varices 10.6 SHBG PRL GNRH1
127 marasmus 10.6 SHBG INS IGF1
128 diabetes insipidus 10.6 PRL POMC INS
129 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 10.6 POMC CYP21A2
130 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.6 INS IGF1
131 endometriosis of ovary 10.6 GNRH1 CYP19A1 AMH
132 autoimmune hepatitis type 2 10.6 CYP21A2 CYP17A1 CYP11A1
133 diabetes insipidus, neurohypophyseal 10.5 PRL POMC GNRH1
134 premenstrual tension 10.5 POMC GNRH1
135 precocious puberty, male-limited 10.5 LHCGR CYP19A1
136 acute adrenal insufficiency 10.5 POMC CYP21A2 CYP11A1
137 hormone producing pituitary cancer 10.5 PRL POMC IGF1
138 pigmentation disease 10.5 SHBG INS IGF1
139 central precocious puberty 10.5 IGF1 GNRH1
140 mineral metabolism disease 10.5 POMC INS CYP17A1
141 autoimmune polyendocrine syndrome 10.5 INS CYP21A2 CYP11A1
142 freemartinism 10.5 INSL3 AMH
143 hypothyroidism, congenital, nongoitrous, 4 10.5 PRL POMC
144 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.5 CYP21A2 CYP17A1 CYP11A1
145 growth hormone secreting pituitary adenoma 10.5 PRL POMC IGF1
146 congenital hypopituitarism 10.5 PRL IGF1 CYP19A1
147 ovarian serous adenofibroma 10.5 POMC AMH
148 pituitary tumors 10.5 PRL POMC IGF1
149 persistent fetal circulation syndrome 10.5 POMC INS IGF1
150 chronic salpingo-oophoritis 10.5 PRL AMH
151 polyendocrinopathy 10.5 CYP17A1 CYP11A1
152 adult syndrome 10.5 POMC INS IGF1
153 functioning pituitary adenoma 10.5 PRL POMC IGF1
154 prostatic hyperplasia, benign 10.5 SRD5A2 SHBG CYP17A1 AR
155 testicular leydig cell tumor 10.5 INSL3 CYP21A2
156 endogenous depression 10.5 POMC INS GNRH1
157 central nervous system benign neoplasm 10.5 PRL POMC IGF1
158 carney complex variant 10.5 PRL POMC IGF1
159 estrogen excess 10.5 SHBG PRL GNRH1 CYP19A1
160 abducens nerve disease 10.5 PRL POMC
161 estrogen-receptor negative breast cancer 10.5 IGF1 CYP19A1 AR
162 sertoli cell tumor 10.5 NR5A1 CYP19A1 AR
163 bulimia nervosa 10.5 PRL POMC INS
164 stuttering 10.5 SHBG GNRH1 CYP19A1 CYP17A1
165 teeth hard tissue disease 10.5 IGF1 CYP19A1 AR
166 female breast cancer 10.5 IGF1 CYP19A1 AR
167 functionless pituitary adenoma 10.5 POMC IGF1
168 polyp of corpus uteri 10.5 PRL GNRH1
169 acanthosis nigricans 10.5 SHBG PRL INS IGF1
170 acidophil adenoma 10.5 PRL POMC INS IGF1
171 endocrine pancreas disease 10.5 SHBG POMC INS IGF1
172 sheehan syndrome 10.5 PRL POMC INS IGF1
173 hyperpituitarism 10.5 PRL POMC INS IGF1
174 rete ovarii adenoma 10.5 PRL GNRH1
175 mammographic density 10.5 PRL IGF1 CYP19A1 CYP17A1
176 insulin-like growth factor i 10.5 SHBG PRL INS IGF1
177 adrenocortical carcinoma, hereditary 10.5 NR5A1 CYP17A1 CYP11A1
178 leptin deficiency or dysfunction 10.4 SHBG POMC INS IGF1
179 goiter 10.4 SHBG PRL INS IGF1
180 bone resorption disease 10.4 SHBG INS IGF1 CYP19A1
181 fasting hypoglycemia 10.4 POMC IGF1
182 rete ovarii neoplasm 10.4 PRL GNRH1
183 sleep disorder 10.4 PRL POMC INS IGF1
184 pituitary adenoma 10.4 PRL POMC IGF1 GNRH1
185 mccune-albright syndrome 10.4 PRL IGF1 CYP19A1 AMH
186 hyperproinsulinemia 10.4 SHBG INS
187 amelogenesis imperfecta, type ig 10.4 IGF1 GNRH1 CYP19A1 AR
188 ovarian sex-cord stromal tumor 10.4 NR5A1 HSD3B2 AMHR2
189 endocrine organ benign neoplasm 10.4 PRL POMC INS IGF1
190 septooptic dysplasia 10.4 PRL POMC IGF1 GNRH1
191 overnutrition 10.4 SHBG POMC INS IGF1
192 primary hyperparathyroidism 10.4 PRL POMC INS IGF1
193 varicocele 10.4 SHBG PRL GNRH1 AR AMH
194 bone remodeling disease 10.4 INS IGF1 CYP19A1
195 thyroid gland disease 10.4 PRL POMC INS IGF1
196 hyperinsulinism 10.4 SHBG INS IGF1 GNRH1
197 fibromyalgia 10.4 POMC INS IGF1
198 chronic fatigue syndrome 10.4 POMC INS IGF1
199 glucose intolerance 10.4 SHBG POMC INS IGF1
200 potter's syndrome 10.4 INS IGF1
201 alopecia, androgenetic, 1 10.4 SRD5A2 SHBG CYP21A2 CYP19A1 AR
202 acquired metabolic disease 10.4 PRL POMC INS IGF1
203 hair disease 10.4 SHBG POMC INS IGF1 AR
204 alopecia 10.4 SRD5A2 SHBG PRL IGF1 AR
205 endometriosis 10.4 NR5A1 GNRH1 CYP19A1 CYP17A1
206 transsexualism 10.4 SRD5A2 CYP21A2 CYP19A1 CYP17A1 AR
207 hypoglycemia 10.4 PRL POMC INS IGF1
208 pituitary infarct 10.4 PRL POMC INS IGF1 GNRH1
209 hyperthyroidism 10.4 SHBG PRL POMC INS IGF1
210 testicular cancer 10.4 SHBG LHCGR INSL3 AR
211 hypothalamic disease 10.4 PRL POMC INS IGF1 GNRH1
212 anorexia nervosa 10.4 SHBG PRL POMC INS IGF1
213 pituitary apoplexy 10.4 PRL POMC INS IGF1 GNRH1
214 empty sella syndrome 10.4 PRL POMC INS IGF1 GNRH1
215 aromatase excess syndrome 10.4 SHBG POMC IGF1 GNRH1 CYP19A1
216 adrenal hypoplasia, congenital 10.4 POMC NR5A1 HSD3B2 GNRH1
217 gonadoblastoma 10.4
218 adrenal adenoma 10.4 POMC INS CYP21A2 CYP17A1 CYP11A1
219 pituitary gland disease 10.4 PRL POMC INS IGF1 GNRH1
220 leiomyoma, uterine 10.3 SHBG IGF1 GNRH1 CYP19A1 CYP17A1
221 breast disease 10.3 SHBG PRL POMC IGF1 CYP19A1
222 testicular granulosa cell tumor 10.3 AMHR2 AMH
223 sex cord-gonadal stromal tumor 10.3 POMC NR5A1 CYP19A1 AMHR2 AMH
224 adenoma 10.3 PRL POMC LHCGR IGF1 CYP21A2
225 azoospermia 10.3
226 craniopharyngioma 10.3 PRL NR5A1 INS IGF1 GNRH1
227 adrenal cortical adenoma 10.3 POMC NR5A1 CYP21A2 CYP17A1 CYP11A1
228 pituitary adenoma, prolactin-secreting 10.3 PRL POMC NR5A1 IGF1 GNRH1
229 uterine benign neoplasm 10.3 SHBG PRL IGF1 GNRH1 CYP19A1 AMH
230 hyperprolactinemia 10.3 SHBG PRL POMC INS IGF1 GNRH1
231 ovarian hyperstimulation syndrome 10.3 SHBG LHCGR INS GNRH1 CYP19A1 AMH
232 hypopituitarism 10.3 SHBG PRL POMC INS IGF1 GNRH1
233 acromegaly 10.3 SHBG PRL POMC INS IGF1 GNRH1
234 neurofibromatosis, type ii 10.3 SHBG PRL POMC INS IGF1 CYP21A2
235 hypothyroidism 10.2 SHBG PRL POMC INS IGF1 GNRH1
236 adrenal cortical hypofunction 10.2 POMC NR5A1 INS CYP21A2 CYP17A1 CYP11A1
237 physical disorder 10.2 SRD5A2 INSL3 AMH
238 androgenic alopecia 10.2 SRD5A2 SHBG PRL INS IGF1 CYP19A1
239 reproductive organ benign neoplasm 10.1 SHBG PRL IGF1 GNRH1 CYP19A1 AMHR2
240 adrenal cortical carcinoma 10.1 POMC NR5A1 HSD3B2 CYP21A2 CYP17A1 CYP11A1
241 asperger syndrome 10.1 SHBG IGF1 CYP21A2 CYP19A1 CYP17A1 CYP11A1
242 hypoadrenocorticism, familial 10.1 POMC NR5A1 HSD3B2 CYP21A2 CYP17A1 CYP11A1
243 dysgerminoma 10.1
244 kallmann syndrome 10.1 SRD5A2 PRL NR5A1 INSL3 GNRH1 AMH
245 adrenal carcinoma 10.1 POMC NR5A1 HSD3B2 CYP21A2 CYP17A1 CYP11A1
246 endometrial cancer 10.1 SHBG INS IGF1 GNRH1 CYP19A1 CYP17A1
247 in situ carcinoma 10.1
248 germ cells tumors 10.1
249 prader-willi syndrome 10.1 PRL POMC INSL3 INS IGF1 GNRH1
250 adrenal rest tumor 10.1 POMC NR5A1 INSL3 HSD3B2 HSD17B3 CYP21A2
251 cell type benign neoplasm 10.1 PRL POMC IGF1
252 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 10.1
253 germ cell cancer 10.1
254 nonsyndromic disorders of testicular development 10.1
255 chromosomal triplication 10.1
256 detrusor sphincter dyssynergia 10.1
257 dysostosis 10.1
258 subacute delirium 10.1
259 spinal cord injury 10.1
260 pik3ca-related overgrowth syndrome 10.1
261 campomelic dysplasia 10.0
262 wilms tumor 5 10.0
263 alacrima, achalasia, and mental retardation syndrome 10.0
264 inguinal hernia 10.0
265 infant gynecomastia 10.0
266 seminoma 10.0
267 testicular sex cord-stromal neoplasm 10.0 POMC NR5A1 LHCGR INSL3 CYP19A1 AMHR2
268 adrenal cortex disease 10.0 PRL POMC NR5A1 INS IGF1 CYP21A2
269 conn's syndrome 10.0 PRL POMC LHCGR IGF1 GNRH1 CYP21A2
270 frasier syndrome 9.9
271 autosomal recessive disease 9.9
272 46,xy partial gonadal dysgenesis 9.9
273 overgrowth syndrome 9.9
274 aniridia 1 9.9
275 coarctation of aorta 9.9
276 spondylocostal dysostosis 5 9.9
277 lipomatosis, multiple 9.9
278 ectodermal dysplasia-syndactyly syndrome 2 9.9
279 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 9.9
280 ptosis 9.9
281 tracheomalacia 9.9
282 myelomeningocele 9.9
283 pleomorphic lipoma 9.9
284 blepharophimosis 9.9
285 acquired thrombocytopenia 9.9
286 synostosis 9.9
287 neurogenic bladder 9.9
288 acute cystitis 9.9
289 craniosynostosis 9.9
290 teratoma 9.9
291 hypotonia 9.9
292 renal dysplasia 9.9
293 osteoporosis 9.9 SHBG PRL INSL3 INS IGF1 GNRH1
294 sebaceous gland disease 9.9 SHBG PRL POMC INS IGF1 GNRH1
295 diaphragmatic hernia, congenital 9.9
296 attention deficit-hyperactivity disorder 9.9
297 testicular regression syndrome 9.9
298 46,xy sex reversal 1 9.9
299 gonadal agenesis 9.9
300 46,xx sex reversal 4 9.9
301 cloacal exstrophy 9.9
302 46 xx gonadal dysgenesis 9.9
303 choriocarcinoma 9.9
304 simpson-golabi-behmel syndrome 9.9
305 syndrome with 46,xy disorder of sex development 9.8
306 adrenal gland disease 9.8 PRL POMC NR5A1 INS IGF1 HSD3B2
307 anovulation 9.8 SHBG PRL INS IGF1 GNRH1 DENND1A
308 body mass index quantitative trait locus 11 9.8 SHBG PRL POMC NR5A1 INS IGF1
309 achondroplasia 9.7
310 anal canal carcinoma 9.7
311 cleft palate, isolated 9.7
312 major affective disorder 1 9.7
313 neurofibromatosis, type iv, of riccardi 9.7
314 noonan syndrome 1 9.7
315 pectus excavatum 9.7
316 neural tube defects 9.7
317 chromosome 2q35 duplication syndrome 9.7
318 wilms tumor 1 9.7
319 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency 9.7
320 chondrodysplasia punctata syndrome 9.7
321 fanconi anemia, complementation group a 9.7
322 ovarian dysgenesis 1 9.7
323 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.7
324 methemoglobinemia and ambiguous genitalia 9.7
325 opitz gbbb syndrome, type i 9.7
326 hypomelanosis of ito 9.7
327 alpha-thalassemia/mental retardation syndrome, x-linked 9.7
328 leukemia, acute myeloid 9.7
329 branchiootic syndrome 1 9.7
330 alpha-thalassemia 9.7
331 noonan syndrome 2 9.7
332 anxiety 9.7
333 fanconi anemia, complementation group j 9.7
334 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 9.7
335 mirage syndrome 9.7
336 helix syndrome 9.7
337 congenital methemoglobinemia 9.7
338 deficiency anemia 9.7
339 perrault syndrome 9.7
340 hypomyelinating leukodystrophy 9.7
341 thalassemia 9.7
342 leukodystrophy 9.7
343 microcephaly 9.7
344 hypoparathyroidism 9.7
345 penile cancer 9.7
346 patau syndrome 9.7
347 nephrotic syndrome 9.7
348 diamond-blackfan anemia 9.7
349 pure red-cell aplasia 9.7
350 disease of mental health 9.7
351 keratosis 9.7
352 urethral stricture 9.7
353 skin squamous cell carcinoma 9.7
354 germinoma 9.7
355 embryonal carcinoma 9.7
356 palmoplantar keratosis 9.7
357 extragonadal seminoma 9.7
358 juvenile type testicular granulosa cell tumor 9.7
359 anal canal squamous cell carcinoma 9.7
360 urethral diverticulum 9.7
361 hydrocele 9.7
362 48,xyyy 9.7
363 cerebro-oculo-facio-skeletal syndrome 9.7
364 chromosome 7q duplication 9.7
365 growth hormone deficiency 9.7
366 horseshoe kidney 9.7
367 partial deletion of y 9.7
368 penoscrotal transposition 9.7
369 pseudo-turner syndrome 9.7
370 hypertonia 9.7
371 mixed germ cell tumor 9.7
372 unilateral aplasia of the mullerian ducts 9.7
373 adrenogenital syndrome 9.7
374 45,x/46,xy mixed gonadal dysgenesis 9.7
375 malignant tumor of penis 9.7
376 obsolete: ito hypomelanosis 9.7
377 obsolete: short chain 3-hydroxyacyl-coa dehydrogenase deficiency 9.7
378 glomerular disease 9.7
379 red cell aplasia 9.7
380 primary adrenal insufficiency 9.7
381 46,xx sex reversal 2 9.7
382 46,xy sex reversal 3 9.7
383 clubfoot 9.7
384 ectodermal dysplasia 9.7
385 47,xyy 9.7
386 steroid inherited metabolic disorder 9.7 SHBG PRL POMC NR5A1 INS HSD3B2
387 prostate cancer 9.6 SRD5A2 SHBG INS IGF1 HSD3B2 HSD17B3
388 ovarian disease 9.3 SHBG PRL POMC NR5A1 LHCGR INS

Graphical network of the top 20 diseases related to Sex Development Disorder:



Diseases related to Sex Development Disorder

Symptoms & Phenotypes for Sex Development Disorder

MGI Mouse Phenotypes related to Sex Development Disorder:

45 (showing 14, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.35 AMH AMHR2 AR CYP11A1 CYP19A1 DENND1A
2 cellular MP:0005384 10.27 AMHR2 AR CYP11A1 CYP17A1 CYP19A1 DENND1A
3 behavior/neurological MP:0005386 10.26 AR CYP11A1 CYP17A1 CYP19A1 CYP21A2 INS
4 cardiovascular system MP:0005385 10.25 AMHR2 AR CYP11A1 CYP17A1 CYP19A1 DENND1A
5 homeostasis/metabolism MP:0005376 10.25 AMH AMHR2 AR CYP11A1 CYP17A1 CYP19A1
6 hematopoietic system MP:0005397 10.2 AMHR2 AR CYP11A1 CYP19A1 CYP21A2 DENND1A
7 immune system MP:0005387 10.14 AMHR2 AR CYP11A1 CYP19A1 CYP21A2 GNRH1
8 adipose tissue MP:0005375 10.08 AR CYP17A1 CYP19A1 IGF1 INS LHCGR
9 integument MP:0010771 10.02 AMHR2 AR CYP19A1 CYP21A2 GNRH1 IGF1
10 liver/biliary system MP:0005370 9.97 AR CYP11A1 CYP19A1 DENND1A GNRH1 INS
11 nervous system MP:0003631 9.9 AR CYP11A1 CYP19A1 DENND1A GNRH1 IGF1
12 neoplasm MP:0002006 9.8 AMH AMHR2 AR GNRH1 IGF1 POMC
13 renal/urinary system MP:0005367 9.56 AMHR2 AR CYP19A1 GNRH1 IGF1 INS
14 reproductive system MP:0005389 9.5 AMH AMHR2 AR CYP11A1 CYP17A1 CYP19A1

Drugs & Therapeutics for Sex Development Disorder

Drugs for Sex Development Disorder (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 14, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Follicle Stimulating Hormone Phase 4
2 Chorionic Gonadotropin Phase 4
3
Hydrocortisone acetate Approved, Vet_approved Phase 1 50-03-3
4
Hydrocortisone Approved, Vet_approved Phase 1 50-23-7 5754
5 Hormone Antagonists Phase 1
6 Hydrocortisone hemisuccinate Phase 1
7 Hydrocortisone-17-butyrate Phase 1
8 Hydrocortisone 17-butyrate 21-propionate Phase 1
9 Anti-Inflammatory Agents Phase 1
10 glucocorticoids Phase 1
11 Psychotropic Drugs
12 Androgens
13 Anesthetics
14 Hormones

Interventional clinical trials:

(showing 19, show less)
# Name Status NCT ID Phase Drugs
1 Study on the Efficacy and Safety of Pulsatile Gonadotropin Releasing Hormone Pump Treatment in Patients With Idiopathic Hypogonadotropic Hypogonadism Unknown status NCT02310074 Phase 4 Pulsatile Gonadotropin Releasing Hormone;Human chorionic gonadotropin;Urinary Follicle-Stimulating Hormone
2 Interval Bolus Delivery of Subcutaneous Hydrocortisone Via Infusion Pump in Children With Congenital Adrenal Hyperplasia Recruiting NCT03718234 Phase 1 Subcutaneous hydrocortisone;Standard glucocorticoid therapy
3 A Phase 1, Open-Label, Single-Dose, Sequential Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NBI-77860 in Adolescent Females With Congenital Adrenal Hyperplasia Withdrawn NCT02349503 Phase 1 NBI-77860;NBI-77860;NBI-77860
4 Mutation Analysis of 17α-Hydroxylase Unknown status NCT00172510
5 Mutation Analysis of 17βhydroxysteroid Dehydrogenase 3 Deficiency Unknown status NCT00173654
6 Decision Support for Parents Receiving Information About Child's Rare Disease Completed NCT01875640
7 Health-related Quality of Life, Mental Health and Psychotherapeutic Considerations for Women Diagnosed With a Disorder of Sexual Development: Congenital Adrenal Hyperplasia Completed NCT00559078
8 Identifying New Genetic Causes to the Disorders of Growth, Puberty and Sex Development Recruiting NCT03283852
9 Utilizing Whole Exome Sequencing and Genomics to Improve Our Understanding of Disorders of Sex Development (DSD) and Hypospadias Recruiting NCT03102554
10 Uterus Transplantation From a Multi-organ Donor: A Prospective Trial Recruiting NCT03252795
11 Feasibility Study of Uterine Transplantation From Living Donors in Terms of Efficacy and Safety in Patients With Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH) Recruiting NCT03689842
12 Using Anogenital Distance to Determinate Fetal Gender Beetween 18 et 41 Weeks of Gestation. Recruiting NCT03898440
13 Etude de Génétique moléculaire du Syndrome de Mayer-Rokitansky-Kuster-Hauser Recruiting NCT02967822
14 Surgical Evaluation Of Using The Inner Surface Of The Prepuce In Feminizing Genitoplasty In Cases Of Verilized Females With Congenital Adrenal Hyperplasia Recruiting NCT03897504
15 COPENHAGEN Minipuberty Study Active, not recruiting NCT02784184
16 Evaluation of the Outcomes of Feminizing Genitoplasty in Children With Disorders of Sex Development Not yet recruiting NCT04195490
17 Long Term Follow-up for Hypospadias. Hypospadias KOK Not yet recruiting NCT04142632
18 Investigation of Gene Polymorphisms Influencing Steroid Synthesis and Action in Patients With Deficient Steroid Biosynthesis and Disorders of Sex Development Withdrawn NCT00485186
19 Measurements of the Fetal Clitoris by 2D Ultrasound Withdrawn NCT01011400

Search NIH Clinical Center for Sex Development Disorder

Cochrane evidence based reviews: disorders of sex development

Genetic Tests for Sex Development Disorder

Anatomical Context for Sex Development Disorder

MalaCards organs/tissues related to Sex Development Disorder:

40
Pituitary, Prostate, Bone, Breast, Ovary, Skin, Uterus

Publications for Sex Development Disorder

Articles related to Sex Development Disorder:

(showing 346, show less)
# Title Authors PMID Year
1
Disorder of sex development with germ cell tumors: Which is uncovered first? 61
32020769 2020
2
[Disorders of sex development 46 XY and bilateral metachronous wilms tumor in a child with mutation in exon 7 of WT1 gene]. 61
32003178 2020
3
Clinical, cytogenetic and molecular genetic characterization of a tandem fusion translocation in a male Holstein cattle with congenital hypospadias and a ventricular septal defect. 61
31923267 2020
4
Disorders of sex development: Genetic characterization of a patient cohort. 61
31746433 2020
5
Haematological chimerism masquerading as disorder of sex development. 61
31943282 2020
6
Pubertal outcomes and sex of rearing of patients with ovotesticular disorder of sex development and mixed gonadal dysgenesis. 61
31905442 2019
7
Child with '46, XX' disorder of sex development: clues to diagnose aromatase deficiency. 61
31801784 2019
8
Gonadoblastoma: origin and outcome. 61
31805291 2019
9
Atypical Presentation of Swyer Syndrome. 61
31356871 2019
10
Male patient 46,XX SRY-negative and unambiguous genitalia: A case report 61
31860174 2019
11
Application of droplet digital PCR in diagnosing of X monosomy in mares. 61
31793061 2019
12
Technical note: Droplet digital PCR as a new molecular method for a simple and reliable diagnosis of freemartinism in cattle. 61
31447157 2019
13
Classic and "Dissecting" Gonadoblastoma in a Phenotypic Girl With a 46, XX Peripheral Karyotype and No Evidence of a Disorder of Sex Development. 61
30252730 2019
14
Persistent Mü̈llerian duct syndrome in a beluga whale Delphinapterus leucas. 61
31724560 2019
15
Late-onset vanishing testis-like syndrome in a 38,XX/38,XY agonadic pig (Sus scrofa). 61
31679558 2019
16
Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia. 61
31344365 2019
17
5α-Reductase type 2 deficiency in families from an isolated Andean population in Venezuela. 61
31613402 2019
18
Similar Cause, Different Phenotype: SOX9 Enhancer Duplication in a Family. 61
31661700 2019
19
Effects of pre- and post-pubertal dihydrotestosterone treatment on penile length in 5α-reductase type 2 deficiency. 61
31178538 2019
20
Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion. 61
30240710 2019
21
[Early correction of hypospadias in girl with a disorder of sex development. clinical case]. 61
31535812 2019
22
Neurofibromatosis Masquerading as Disorder of Sex Development. 61
31803604 2019
23
A cloacal anomaly is not a disorder of sex development. 61
31256297 2019
24
A duplication upstream of SOX9 associated with SRY negative 46,XX ovotesticular disorder of sex development: A case report 61
31476840 2019
25
Compound heterozygous mutations in the luteinizing hormone receptor signal peptide causing 46,XY disorder of sex development. 61
31167162 2019
26
Ovotesticular Disorder of Sex Development: A Rare Case of Lateral Subtype 45X/46XY kariotype Diagnosed in Adulthood. 61
31005658 2019
27
Voice dissatisfaction in individuals with a disorder of sex development. 61
31026085 2019
28
46,XX Testicular Disorder of Sex Development (DSD): A Case Report and Systematic Review. 61
31336995 2019
29
Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro-oculo-facio-skeletal syndrome. 61
31124294 2019
30
A Rare Case of Swyer Syndrome in Two Sisters with Successful Pregnancy Outcome in Both. 61
31576088 2019
31
Persistent Mullerian duct Syndrome in a Brazilian miniature schnauzer dog. 61
31241703 2019
32
A comprehensive study of disorder of sex development in Staffordshire bull terrier dog. 61
30903716 2019
33
[Consensus statement on the diagnosis and endocrine treatment of children with disorder of sex development]. 61
31216796 2019
34
A Rare Etiology of 46, XY Disorder of Sex Development and Adrenal Insufficiency: A case of MIRAGE syndrome caused by mutations in SAMD9 gene 61
31208161 2019
35
Outcome of feminizing genital reconstruction in female sex assigned disorder of sex development in a low-income country. 61
30926253 2019
36
Initial assessment of a child with suspected disorder of sex development. 61
31105293 2019
37
'Size does matter': Prophylactic gonadectomy in a case of Swyer syndrome. 61
30690088 2019
38
Molecular genetics and phenotype/genotype correlation of 5-α reductase deficiency in a highly consanguineous population. 61
30269266 2019
39
The Dilemma of Sex of Rearing: A Case of a 45,X/46,XY Neonate with Hydrocolpos. 61
30205160 2019
40
[Chromosome Analysis in the Assessment for Gender Affirmation Process: A Retrospective Study]. 61
31613974 2019
41
Association between polymorphisms in the SOX9 region and canine disorder of sex development (78,XX; SRY-negative) revisited in a multibreed case-control study. 61
31220175 2019
42
Ovotesticular Disorder of Sex Development: An Unusual Presentation. 61
31538032 2019
43
Ovotesticular Disorder of Sex Development (Ovotestis) in Simpson-Golabi-Behmel Syndrome: Expansion of the Clinical Spectrum. 61
29652239 2019
44
A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant. 61
30294972 2019
45
Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches. 61
30504698 2019
46
A Follow-Up from Infancy to Puberty in a Japanese Male with SRY-Negative 46,XX Testicular Disorder of Sex Development Carrying a p.Arg92Trp Mutation in NR5A1. 61
30739115 2019
47
Ambiguous genitalia: An overview of 7 years experience at the Children's Hospital & Institute of Child Health, Lahore, Pakistan. 61
30881414 2019
48
Baseline Characteristics of Infants With Atypical Genital Development: Phenotypes, Diagnoses, and Sex of Rearing. 61
30623164 2019
49
Once-Daily Low-Dose Cyclosporine A Treatment with Angiotensin Blockade for Long-Term Remission of Nephropathy in Frasier Syndrome. 61
30651406 2019
50
Incidence and diagnoses of disorders of sex development in proximal hypospadias. 61
30224237 2018
51
[Genetic study of a fetus with a de novo Xp22.33;Yp11.2 translocation]. 61
30512166 2018
52
GATA4 variant identified by whole-exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development. 61
30455927 2018
53
Long-term follow-up in a Chinese child with congenital lipoid adrenal hyperplasia due to a StAR gene mutation. 61
30400872 2018
54
[The 46,XX male; a chromosomal form of a disorder of sex development]. 61
30358369 2018
55
Gender identity in patients with 5-alpha reductase deficiency raised as females. 61
30297225 2018
56
Management of pediatric patients with DSD and ambiguous genitalia: Balancing the child's moral claims to self-determination with parental values and preferences. 61
29903608 2018
57
Attitudes toward 'Disorders of Sex Development' nomenclature among physicians, genetic counselors, and mental health clinicians. 61
30224300 2018
58
Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin? 61
29891883 2018
59
Identification of a novel mutation in the SRD5A2 gene of one patient with 46,XY disorder of sex development. 61
29798939 2018
60
Phenotypic and molecular characteristics of androgen insensitivity syndrome patients. 61
29785970 2018
61
Genetic testing of XY newborns with a suspected disorder of sex development. 61
29782383 2018
62
Robot-assisted laparoscopic excision of prostatic utricle in a 3-year old. 61
30396603 2018
63
Disorder of Sexual Development in a Mare with an Unusual Tentative Mosaic Karyotype: 63,X/64,Xdel(Y). 61
30071527 2018
64
Duplication of SOX9 associated with 46,XX ovotesticular disorder of sex development. 61
29673731 2018
65
Novel homozygous nonsense mutations in LHCGR lead to empty follicle syndrome and 46, XY disorder of sex development. 61
29912377 2018
66
A challenging case of primary amenorrhoea. 61
30002216 2018
67
Androgen insensitivity syndrome. 61
29949163 2018
68
45,X/46,XY Mosaicism Presenting With Isolated Unilateral Cryptorchidism and a Normal Blood Karyotype. 61
29618062 2018
69
A case report of ovotesticular disorder of sex development (OT-DSD) in a baboon (Papio spp.) and a brief review of the non-human primate literature. 61
29504143 2018
70
5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review. 61
29858846 2018
71
Ovotesticular Disorder of Sex Development Presenting as an Acute Scrotum. 61
29548867 2018
72
Proximal Hypospadias and a Novel WT1 Variant: When Should Genetic Testing Be Considered? 61
29610178 2018
73
Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype. 61
29575617 2018
74
Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis. 61
29668062 2018
75
Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome. 61
29575631 2018
76
Morbidity, Mortality, and Socioeconomics in Females With 46,XY Disorders of Sex Development: A Nationwide Study. 61
29165629 2018
77
Health status in 1040 adults with disorders of sex development (DSD): a European multicenter study. 61
29490934 2018
78
Classical gonadoblastoma: its relationship to the 'dissecting' variant and undifferentiated gonadal tissue. 61
28881049 2018
79
46,XY Disorder of Sex Development due to 17-Beta Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Infant of Greek Origin. 61
28739554 2018
80
GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes. 61
29670578 2018
81
Hypoparathyroidism and disorder of sex development: A rare association. 61
28992979 2018
82
Methodological Issues for Psychological Evaluation across the Lifespan of Individuals with a Difference/Disorder of Sex Development. 61
29145209 2018
83
XY (SRY-positive) Ovarian Disorder of Sex Development in Cattle. 61
29902792 2018
84
Case Report: Laparoscopic Approach for Orchiopexy in a 26-Year-Old Man with Accidentally Discovered Persistent Müllerian Duct Syndrome and Bilateral Undescended Testis. 61
29845116 2018
85
Parent-Rated Severity of Illness and Anxiety among Caregivers of Children Born with a Disorder of Sex Development Including Ambiguous Genitalia. 61
30566934 2018
86
46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation of CYP17A1 Gene: Consequences of Late Diagnosis. 61
29854486 2018
87
Achondroplasia with SRY-positive 46, XX disorder of sex development: an extremely rare association. 61
30087777 2018
88
A rare cause of primary adrenal insufficiency due to a homozygous Arg188Cys mutation in the STAR gene. 61
29576868 2018
89
A Novel Mutation in the Critical P-Box Residue of Steroidogenic Factor-1 Presenting with XY Sex Reversal and Transient Adrenal Failure. 61
29151085 2018
90
Quality of Life in Late-Treated Patients With Disorders of Sex Development: Insights for Patient-Centered Care. 61
30805316 2018
91
Diagnostic and therapeutic approach in newborns with ambiguous genitale with disorder of sex development: consensus report of Turkish Neonatal and Pediatric Endocrinology and Diabetes Societies. 61
31236033 2018
92
Sex Assignment in Conditions Affecting Sex Development. 61
29280745 2017
93
Very late presentation of a disorder of sex development. 61
28493439 2017
94
Attitudes towards "disorders of sex development" nomenclature among affected individuals. 61
28545802 2017
95
Coexistence of Trisomy 13 and SRY (-) XX Ovotesticular Disorder of Sex Development. 61
29220612 2017
96
Transgender Associations and Possible Etiology: A Literature Review. 61
29503778 2017
97
A novel variant of DHH in a familial case of 46,XY disorder of sex development: Insights from molecular dynamics simulations. 61
28708305 2017
98
Prevalence of endocrine and genetic abnormalities in boys evaluated systematically for a disorder of sex development. 61
28938747 2017
99
Disorder of sex development in a cat with chromosome mosaicism 37,X/38,X,r(Y). 61
28370681 2017
100
Female-to-male sex reversal associated with unique Xp21.2 deletion disrupting genomic regulatory architecture of the dosage-sensitive sex reversal region. 61
28483799 2017
101
Frequency of gonadal tumours in complete androgen insensitivity syndrome (CAIS): A retrospective case-series analysis. 61
28351649 2017
102
[Evaluation of urogenital sinus surgery in disorder of sex development]. 61
29798567 2017
103
A duplication in a patient with 46,XX ovo-testicular disorder of sex development refines the SOX9 testis-specific regulatory region to 24 kb. 61
28317102 2017
104
Mystery and realities of phalloplasty: a systematic review. 61
28861290 2017
105
45,X/46,XY ovotesticular disorder of sex development revisited: undifferentiated gonadal tissue may be mistaken as ovarian tissue. 61
28742519 2017
106
Ten cases with 46,XX testicular disorder of sex development: single center experience. 61
28379671 2017
107
Perspectives on testicular sex cord-stromal tumors and those composed of both germ cells and sex cord-stromal derivatives with a comparison to corresponding ovarian neoplasms. 61
28445692 2017
108
Gender Identity in Patients with Congenital Adrenal Hyperplasia. 61
29201068 2017
109
Deep sequencing of a candidate region harboring the SOX9 gene for the canine XX disorder of sex development. 61
28094446 2017
110
Delayed Diagnosis of a 17-Hydroxylase/17,20-Lyase Deficient Patient Presenting as a 46,XY Female: A Low Normal Potassium Level Can Be an Alerting Diagnostic Sign. 61
28008861 2017
111
A case report of pedigree of a homozygous mutation of the steroidogenic acute regulatory protein causing lipoid congenital adrenal hyperplasia. 61
28538409 2017
112
Persistent Müllerian duct syndrome: A novel mutation in the Αnti-Müllerian Ηormone gene. 61
28742509 2017
113
A novel disorder of sex development, characterized by progressive regression of testicular function and cystic leukoencephalopathy. 61
28160395 2017
114
46 XX karyotype during male fertility evaluation; case series and literature review. 61
27297128 2017
115
Disorders of sex development (DSD): not only babies with ambiguous genitalia. A practical guide for surgeons. 61
27990598 2017
116
Evaluation and treatment for ovotesticular disorder of sex development (OT-DSD) - experience based on a Chinese series. 61
28351396 2017
117
Gender Issues and Related Social Stigma Affecting Patients with a Disorder of Sex Development in India. 61
27649694 2017
118
Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys. 61
28209183 2017
119
The Islamic Perspectives of Gender-Related Issues in the Management of Patients With Disorders of Sex Development. 61
27102604 2017
120
Changes in levels of parental distress after their child with atypical genitalia undergoes genitoplasty. 61
28041823 2017
121
Social stigmatisation in late identified patients with disorders of sex development in Indonesia. 61
29637149 2017
122
The Effect of the Testis on the Ovary: Structure-Function Relationships in a Neonate with a Unilateral Ovotestis (Ovotesticular Disorder of Sex Development)
. 61
28253506 2017
123
The Spectrum of Ovotesticular Disorders of Sex Development in South Africa: A Single-Centre Experience. 61
28376506 2017
124
Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development. 61
28503313 2017
125
A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant. 61
27855412 2017
126
Novel AMH and AMHR2 Mutations in Two Egyptian Families with Persistent Müllerian Duct Syndrome. 61
28142151 2017
127
46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency. 61
27163392 2017
128
Primary rectal seminoma with the presence of disorder of sex development characteristics: a case report. 61
31966877 2017
129
Testicular XX (SRY-Negative) Disorder of Sex Development in Cat. 61
28848109 2017
130
XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris). 61
29053721 2017
131
Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX. 61
28446958 2017
132
Incidence, Prevalence, Diagnostic Delay, and Clinical Presentation of Female 46,XY Disorders of Sex Development. 61
27603905 2016
133
Bilateral Cryptorchidism, a rare presentation for persistent Müllerian duct syndrome. 61
28163853 2016
134
Complete androgen insensitivity syndrome with concomitant seminoma and Sertoli cell adenoma: an unusual combination. 61
28039344 2016
135
Disorders of Adrenal Steroidogenesis: Impact on Gonadal Function and Sex Development. 61
28508605 2016
136
Maternal uniparental disomy for chromosome 6 in a patient with IUGR, ambiguous genitalia, and persistent mullerian structures. 61
27500688 2016
137
[Patients with variations of sex development : an example of interdisciplinary care]. 61
28696598 2016
138
Primary amenorrhea after bone marrow transplantation and adjuvant chemotherapy misdiagnosed as disorder of sex development: A case report. 61
27858857 2016
139
Laparoscopic approach for gonadectomy in pediatric patients with intersex disorders. 61
27867855 2016
140
Gender Dysphoria in a 62-Year-Old Genetic Female With Congenital Adrenal Hyperplasia. 61
27270635 2016
141
45,XO/47,XXX/46,XX Male Sex Reversal Syndrome. A Case Report. 61
30383953 2016
142
Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia. 61
26935236 2016
143
Stochastic anomaly of methylome but persistent SRY hypermethylation in disorder of sex development in canine somatic cell nuclear transfer. 61
27501986 2016
144
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. 61
27378692 2016
145
Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015). 61
26270788 2016
146
Delayed diagnosis of disorder of sex development (DSD) due to P450 oxidoreductase (POR) deficiency. 61
27376429 2016
147
Prophylactic Bilateral Gonadectomy for Ovotesticular Disorder of Sex Development in a Patient With Mosaic 45,X/46,X,idic(Y)q11.222 Karyotype. 61
26793590 2016
148
Missense Mutation in the Ligand-Binding Domain of the Horse Androgen Receptor Gene in a Thoroughbred Family with Inherited 64,XY (SRY+) Disorder of Sex Development. 61
27073903 2016
149
A Rare Case of Testicular Disorder of Sex Development in a Dog (78,XX; SRY-Negative) with Male External Genitalia and Detection of Copy Number Variation in the Region Upstream of the SOX9 Gene. 61
27089505 2016
150
Complete androgen insensitivity syndrome associated with bilateral sertoli cell adenomas and unilateral paratesticular leiomyoma: A case report. 61
29090880 2016
151
Mixed Gonadal Dysgenesis with an unusual "inverted" Y chromosome. 61
27941186 2016
152
A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis. 61
28030592 2016
153
Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development. 61
27055092 2016
154
46,XY disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency: a plea for timely genetic testing. 61
27307783 2016
155
The 46XX Ovotesticular Disorders of Sexual Development with Dismorphic Features. 61
26165913 2015
156
Characterizing Early Psychosocial Functioning of Parents of Children with Moderate to Severe Genital Ambiguity due to Disorders of Sex Development. 61
26196734 2015
157
A novel mutation of AMH in three siblings with persistent Mullerian duct syndrome. 61
26181047 2015
158
A rare case of lateral ovotesticular disorder with Klinefelter syndrome mosaicism 46, XX/47, XXY: An unusual presentation. 61
26692679 2015
159
A duplication upstream of SOX9 was not positively correlated with the SRY‑negative 46,XX testicular disorder of sex development: A case report and literature review. 61
26260363 2015
160
[Diagnosis and treatment of ovotesticular disorder of sex development: A report of 2 cases]. 61
26665682 2015
161
Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative). 61
26423656 2015
162
Young women with a disorder of sex development: learning to share information with health professionals, friends and intimate partners about bodily differences and infertility. 61
25893820 2015
163
Approach to the Infant with a Suspected Disorder of Sex Development. 61
26210628 2015
164
Androgen insensitivity syndrome. 61
26303084 2015
165
OVOTESTICULAR DISORDER OF SEX DEVELOPMENT: A SINGLE-CENTER EXPERIENCE. 61
25786559 2015
166
46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly. 61
25898814 2015
167
Ovotesticular disorder of sex development with unusual karyotype: patient report. 61
25514326 2015
168
Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development. 61
25604083 2015
169
Gonadal maldevelopment as risk factor for germ cell cancer: towards a clinical decision model. 61
25240975 2015
170
Female form of persistent mullerian duct syndrome: Rare entity. 61
25657558 2015
171
Identification of a novel large CYP17A1 deletion by MLPA analysis in a family with classic 17α-hydroxylase deficiency. 61
25765894 2015
172
Parental Reports of Stigma Associated with Child's Disorder of Sex Development. 61
25918529 2015
173
Body image and sexuality in Indonesian adults with a disorder of sex development (DSD). 61
24144298 2015
174
The first case of 38,XX (SRY-positive) disorder of sex development in a cat. 61
25838845 2015
175
Polymorphism of the CTNNB1 and FOXL2 Genes is not Associated with Canine XX Testicular/Ovotesticular Disorder of Sex Development. 61
26103686 2015
176
Long-term growth hormone treatment in a boy with 45,X/46,X,idic(Yp) mixed gonadal dysgenesis: comparison with growth pattern of an untreated patient. 61
25402381 2015
177
A rare case of mixed gonadal dysgenesis with mosaicism 45, X/46, X, +mar. 61
25569267 2015
178
Growth in Boys with 45,X/46,XY Mosaicism: Effect of Growth Hormone Treatment on Statural Growth. 61
26529521 2015
179
Approach to the patient: transgender youth: endocrine considerations. 61
25140398 2014
180
Gender assignment in patients with disorder of sex development. 61
25354047 2014
181
Testicular disorder of sex development in four cats with a male karyotype (38,XY; SRY-positive). 61
25455261 2014
182
45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study. 61
25351753 2014
183
Natural selection for genetic variants in sport: the role of Y chromosome genes in elite female athletes with 46,XY DSD. 61
25160863 2014
184
Cytochrome P450 oxidoreductase deficiency: rare congenital disorder leading to skeletal malformations and steroidogenic defects. 61
25294558 2014
185
46,XX testicular disorder of sexual development with SRY-negative caused by some unidentified mechanisms: a case report and review of the literature. 61
25529318 2014
186
Two heterozygous mutations of the AMH gene in a Japanese patient with persistent Müllerian duct syndrome. 61
25026127 2014
187
Etiological diagnosis of undervirilized male/XY disorder of sex development. 61
25327912 2014
188
First description of scrotal testicles in a dog affected by 78, XX testicular disorder of sex development. 61
25131568 2014
189
Changes over time in sex assignment for disorders of sex development. 61
25092939 2014
190
Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive. 61
25169080 2014
191
Malformation syndromes associated with disorders of sex development. 61
24913517 2014
192
Gonadoblastoma and hepatoid and endometrioid-like yolk sac tumor: an update. 61
24901396 2014
193
Differences in anxiety and depression between male and female caregivers of children with a disorder of sex development. 61
24859514 2014
194
Commentary to 'caregivers of children with a disorder of sex development: associations between parenting and psychological distress'. 61
24444861 2014
195
Caregivers of children with a disorder of sex development: associations between parenting capacities and psychological distress. 61
24613141 2014
196
A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication. 61
25077096 2014
197
Disorders of sex development (DSDs): an update. 61
24758178 2014
198
Long-term followup of a large cohort of patients with ovotesticular disorder of sex development. 61
24679863 2014
199
Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling. 61
24784881 2014
200
Disorder of sex development in an infant with molecularly confirmed 46,XY, +der(10)t(10;21)(q21.1;q21.3), -21. 61
24443358 2014
201
RevSex duplication-induced and sex-related differences in the SOX9 regulatory region chromatin landscape in human fibroblasts. 61
24351654 2014
202
A parthenogenetic maternal and double paternal contribution to an ovotesticular disorder of sex development. 61
24581244 2014
203
Predictors of posttraumatic stress in parents of children diagnosed with a disorder of sex development. 61
24085468 2014
204
Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/β-catenin signaling. 61
24135036 2014
205
STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases. 61
23859637 2014
206
17α-hydroxylase deficiency diagnosed in early infancy caused by a novel mutation of the CYP17A1 gene. 61
24714196 2014
207
Congenital Adrenal Hyperplasia: Review from a Surgeon's Perspective in the Beginning of the Twenty-First Century. 61
24400298 2014
208
NR5A1 gene mutations: clinical, endocrine and genetic features in two girls with 46,XY disorder of sex development. 61
24434652 2014
209
Phalloplasty: A panacea for 46,XY disorder of sex development conditions with penile deficiency? 61
25247659 2014
210
46,XY disorder of sex development in a sudanese patient caused by a novel mutation in the HSD17B3 gene. 61
24941935 2014
211
The dilemma of the gender assignment in a Portuguese adolescent with disorder of sex development due to 17β-hydroxysteroid-dehydrogenase type 3 enzyme deficiency. 61
25298885 2014
212
Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis. 61
25122490 2014
213
Timing of hypospadias repair in patients with disorders of sex development. 61
25247656 2014
214
Imaging, endoscopy and diagnostic surgery. 61
25247646 2014
215
Advances in neuroimaging. 61
25247645 2014
216
Persistent unexplained congenital clitoromegaly in females born extremely prematurely. 61
23619354 2013
217
A rare case of 46, XX SRY-negative male with approximately 74-kb duplication in a region upstream of SOX9. 61
24140641 2013
218
Novel candidate genes for 46,XY gonadal dysgenesis identified by a customized 1 M array-CGH platform. 61
24055526 2013
219
Gene expression profile during testicular development in patients with SRY-negative 46,XX testicular disorder of sex development. 61
24149105 2013
220
46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1. 61
24056159 2013
221
Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants. 61
24192396 2013
222
Mutation analysis of mitogen activated protein kinase 1 gene in Indian cases of 46,XY disorder of sex development. 61
24497709 2013
223
A diagnosis not to be missed: nonclassic steroid 11β-hydroxylase deficiency presenting with premature adrenarche and hirsutism. 61
23940125 2013
224
Disorder of sex development as a diagnostic clue in the first Spanish known newborn with P450 oxidoreductase deficiency. 61
23878291 2013
225
Imaging of disorder of sex development. 61
24060715 2013
226
46XY Disorder of Sexual Development in Menstrual Dysfunction. 61
24431636 2013
227
64, XX, SRY-negative, testicular DSD syndrome in a Lusitano horse. 61
23057740 2013
228
A case report of an incidental finding of a 46,XX, SRY-negative male with masculine phenotype during standard fertility workup with review of the literature and proposed immediate and long-term management guidance. 61
23290744 2013
229
Partial trisomy 7q and monosomy 13q in a child with disorder of sex development: phenotypic and genotypic findings. 61
23201896 2013
230
Two males with SRY-positive 46,XX testicular disorder of sex development. 61
23110663 2013
231
Complete androgen insensitivity syndrome: a rare case of disorder of sex development. 61
23533861 2013
232
Critical role of Yp inversion in PRKX/PRKY-mediated Xp;Yp translocation in a patient with 45,X testicular disorder of sex development. 61
24088663 2013
233
The novel mutation p.Trp147Arg of the steroidogenic acute regulatory protein causes classic lipoid congenital adrenal hyperplasia with adrenal insufficiency and 46,XY disorder of sex development. 61
23920000 2013
234
Two cases of late-diagnosed ovotesticular disorder of sex development. 61
24381836 2013
235
A novel nonsense mutation in exon 1 of HSD17B3 gene in an Egyptian 46,XY adult female presenting with primary amenorrhea. 61
23796702 2013
236
A 45 X male patient with 7q distal deletion and rearrangement with SRY gene translocation: a case report. 61
24341145 2013
237
Absence of inactivating mutations and deletions in the DMRT1 and FGF9 genes in a large cohort of 46,XY patients with gonadal dysgenesis. 61
22939835 2012
238
Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X). 61
22968487 2012
239
Persistent Müllerian duct syndrome: 8 new cases in Southern California and a review of the literature. 61
23539834 2012
240
Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency. 61
23295294 2012
241
Prevalence of genital abnormalities in neonates. 61
23269242 2012
242
A case series of five sri lankan patients with ovotesticular disorder of sex development. 61
23926413 2012
243
Androgen insensitivity syndrome. 61
23044881 2012
244
Puberty reveals a familial disorder of sex development. 61
22362597 2012
245
Degree of external genital malformation at birth in children with a disorder of sex development and subsequent caregiver distress. 61
22910249 2012
246
Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions. 61
22821627 2012
247
Adult care of children from pediatric urology: part 2. 61
22818132 2012
248
Overview of genetic defects in endocrinopathies in the island of Cyprus; evidence of a founder effect. 61
22857144 2012
249
SRY-positive 78, XY ovotesticular disorder of sex development in a wolf cloned by nuclear transfer. 61
22705746 2012
250
Sex and gender issues in competitive sports: investigation of a historical case leads to a new viewpoint. 61
21540190 2012
251
Duplication of exons 3-10 of the HSD17B3 gene: a novel type of genetic defect underlying 17β-HSD-3 deficiency. 61
22445608 2012
252
A novel SRD5A2 mutation in a Taiwanese newborn with ambiguous genitalia. 61
22453073 2012
253
Transition from pediatric to adult care for adolescents and young adults with a disorder of sex development. 61
22530227 2012
254
Excess DAX1 leads to XY ovotesticular disorder of sex development (DSD) in mice by inhibiting steroidogenic factor-1 (SF1) activation of the testis enhancer of SRY-box-9 (Sox9). 61
22294746 2012
255
[Endocrine disease: progress in diagnosis and treatment. Topics: I. Progress in diagnosis; 5. Gonad: clinical approach to disorder of sex development (DSD)]. 61
22730724 2012
256
A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development. 61
22071891 2012
257
A missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency. 61
22170710 2012
258
Acquired cryptorchidism in a boy with disorder of sex development. 61
23926403 2012
259
Application of the new classification on patients with a disorder of sex development in indonesia. 61
22253624 2012
260
Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred. 61
22907560 2012
261
GTG mutation in the start codon of the androgen receptor gene in a family of horses with 64,XY disorder of sex development. 61
22095250 2012
262
Sertoli cell tumor and intratubular germ cell neoplasia located in separate gonads in an adolescent patient with complete androgen insensitivity: a case report and review of literature. 61
22876554 2012
263
The p.G146A and p.P125P polymorphisms in the steroidogenic factor-1 (SF-1) gene do not affect the risk for hypospadias in Caucasians. 61
23154282 2012
264
17β-hydroxysteroid dehydrogenase-3 deficiency in disorder of sex development. 61
22314477 2012
265
Disorders of sex development: management of gender assignment in a preterm infant with intrauterine growth restriction. 61
22489245 2012
266
Parenting characteristics of female caregivers of children affected by chronic endocrine conditions: a comparison between disorders of sex development and type 1 diabetes mellitus. 61
21911316 2011
267
Testicular function and physical outcome in young adult males diagnosed with idiopathic 46 XY disorders of sex development during childhood. 61
21964959 2011
268
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. 61
22051515 2011
269
Ovotesticular disorder of sex development with mosaic 45,X/46,X,idic(Y) (q11.23) karyotype and streak gonad. 61
21550644 2011
270
Isolated mild clitoral hypertrophy may reveal 46,XY disorders of sex development in infancy due to 17βHSD-3 defect confirmed by molecular analysis. 61
21214500 2011
271
A novel entity of clinically isolated adrenal insufficiency caused by a partially inactivating mutation of the gene encoding for P450 side chain cleavage enzyme (CYP11A1). 61
21880796 2011
272
Gender monitoring and gender reassignment of children and adolescents with a somatic disorder of sex development. 61
22051002 2011
273
A novel WT1 gene mutation in a patient with Wilms' tumor and 46, XY gonadal dysgenesis. 61
21384108 2011
274
Evaluation of terminology used to describe disorders of sex development. 61
20708971 2011
275
Gonadal pathology and tumor risk in relation to clinical characteristics in patients with 45,X/46,XY mosaicism. 61
21508138 2011
276
Aromatase deficiency owing to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene. 61
21521281 2011
277
UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development. 61
21521344 2011
278
Disorder of sex development (XX male, SRY negative) in a French bulldog. 61
22131587 2011
279
46,XX T testicular disorder of sex development. Case report. 61
21705820 2011
280
Normal sex differences in prenatal growth and abnormal prenatal growth retardation associated with 46,XY disorders of sex development are absent in newborns with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 61
21545705 2011
281
Androgen insensitivity and liability to drug-induced extrapyramidal symptoms. 61
21470919 2011
282
The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development. 61
21344134 2011
283
The influence of perioperative factors on primary severe hypospadias repair. 61
21475332 2011
284
Long-term outcome of ovotesticular disorder of sex development: a single center experience. 61
21255100 2011
285
Spurious case of XX maleness in a patient with a history of Wiskott-Aldrich syndrome. 61
21041165 2011
286
Disorders of sex development-when and how to tell the patient. 61
21525798 2011
287
MAMLD1 (mastermind-like domain containing 1) homozygous gain-of-function missense mutation causing 46,XX disorder of sex development in a virilized female. 61
21691970 2011
288
Gonadal development and tumor formation at the crossroads of male and female sex determination. 61
21791949 2011
289
Hormonal management of complete androgen insensitivity syndrome from adolescence onward. 61
22156544 2011
290
P450 side-chain cleavage deficiency--a rare cause of congenital adrenal hyperplasia. 61
21164259 2011
291
[Cis-ruptions of highly conserved non-coding genomic elements distant from the SOX9 gene in the Pierre Robin sequence]. 61
21831342 2011
292
Loss-of-function mutation in GATA4 causes anomalies of human testicular development. 61
21220346 2011
293
Identification of new susceptibility regions for X;Y translocations in patients with testicular disorder of sex development. 61
21088380 2011
294
Unexpected finding of an intact distal vagina in an infant with mixed gonadal dysgenesis. 61
22145487 2011
295
Partial deletion of the NR5A1 (SF1) gene detected by synthetic probe MLPA in a patient with XY gonadal disorder of sex development. 61
21654157 2011
296
Factors that influence the decision to perform a karyotype in suspected disorders of sex development: lessons from the Scottish genital anomaly network register. 61
21474920 2011
297
A 3-year-old boy with ovotestes: gender reassignment and surgical management. 61
21932607 2011
298
Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias. 61
22028768 2011
299
Molecular diagnosis of 5α-reductase type II deficiency in Brazilian siblings with 46,XY disorder of sex development. 61
22272144 2011
300
17-β-hydroxysteroid dehydrogenase type 3 deficiency in three adult Iranian siblings. 61
22212252 2011
301
The role of SRY mutations in the etiology of gonadal dysgenesis in patients with 45,X/46,XY disorder of sex development and variants. 61
20699606 2011
302
Identification by array-Comparative Genomic Hybridization (array-CGH) of a large deletion of luteinizing hormone receptor gene combined with a missense mutation in a patient diagnosed with a 46,XY disorder of sex development and application to prenatal diagnosis. 61
21720050 2011
303
Disorder of sex development: a case of missed opportunity. 61
21048251 2010
304
The European disorder of sex development registry: a virtual research environment. 61
20501980 2010
305
A study of gender outcome of Egyptian patients with 46,XY disorder of sex development. 61
20664246 2010
306
The novel WT1 gene mutation p.H377N associated to Denys-Drash syndrome. 61
20562648 2010
307
Molecular analysis of the SRD5A2 in 46,XY subjects with incomplete virilization: the P212R substitution of the steroid 5alpha-reductase 2 may constitute an ancestral founder mutation in Mexican patients. 61
20019388 2010
308
Psychosexual development in children with disorder of sex development (DSD)--results from the German Clinical Evaluation Study. 61
20662330 2010
309
Blood chimerism in a girl with Down syndrome and possible freemartin effect leading to aplasia of the Müllerian derivatives. 61
20190264 2010
310
[46, XX testicular disorder of sex development: report of 2 cases and review of the literature]. 61
20626165 2010
311
Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development. 61
20150575 2010
312
Holistic management of DSD. 61
20541156 2010
313
Congenital lipoid adrenal hyperplasia: functional characterization of three novel mutations in the STAR gene. 61
20080861 2010
314
De novo 12;17 translocation upstream of SOX9 resulting in 46,XX testicular disorder of sex development. 61
20082466 2010
315
Health-related quality of life, mental health and psychotherapeutic considerations for women diagnosed with a disorder of sexual development: congenital adrenal hyperplasia. 61
20614002 2010
316
Laparoscopic surgery in 46,XX disorder of sex development: hysterosalpingectomy with gonadectomy. 61
20001739 2010
317
The clinical and molecular heterogeneity of 17βHSD-3 enzyme deficiency. 61
20689261 2010
318
Gender identity in disorders of sex development: review article. 61
19914694 2010
319
Ovotesticular disorder of sex development with a prostatic gland and review of literature. 61
19891638 2009
320
Bilateral gonadoblastoma with dysgerminoma and pilocytic astrocytoma with WT1 GT-IVS9 mutation: A 46 XY phenotypic female with Frasier syndrome. 61
19653292 2009
321
Mixed gonadal dysgenesis in a 45,X neonate with chromosome Y material in the dysgenetic gonad. 61
20101895 2009
322
Ambiguous genitalia in a newborn with 45,X/46,X,idic(Y) ovotesticular disorder of sex development. 61
19546054 2009
323
Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility. 61
19463995 2009
324
Assignment of the sex of rearing in the neonate with a disorder of sex development. 61
19444113 2009
325
Boy born after gender preselection following successive gestational androgen excess of maternal luteoma and female disorders of sex development. 61
19110243 2009
326
Inhibin A production after gonadotropin stimulus: a new method to detect ovarian tissue in ovotesticular disorder of sex development. 61
19129714 2009
327
A 5-year-old boy with cryptorchidism and pubic hair: investigation and management of apparent male disorders of sex development in mid-childhood. 61
19153514 2009
328
Functional analysis of novel androgen receptor mutations in a unique cohort of Indonesian patients with a disorder of sex development. 61
19851057 2009
329
Prostate screening in patients with 46,XY disorders of sex development--is it necessary? 61
18710761 2008
330
Intracytoplasmic sperm injection (ICSI) with transmission of a ring(Y) chromosome and ovotesticular disorder of sex development in offspring. 61
18553511 2008
331
Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis. 61
18384427 2008
332
Nonsyndromic Disorders of Testicular Development 61
20301714 2008
333
Gender assignment surgery on children with disorders of sex development: a case report and discussion from South Africa. 61
18287184 2008
334
A 46XX disorder of sex development with a prostate gland and increased level of prostate-specific antigen. 61
18300543 2008
335
Disorders of sex development: a new definition and classification. 61
18279784 2008
336
XX Maleness and XX true hermaphroditism in SRY-negative monozygotic twins: additional evidence for a common origin. 61
18056774 2008
337
Clinical, endocrine, and molecular findings in 17beta-hydroxysteroid dehydrogenase type 3 deficiency. 61
18296911 2008
338
Infertility in a new 46, XX male with positive SRY confirmed by fluorescence in situ hybridization: a case report. 61
19205451 2008
339
Age-specific changes in sex steroid biosynthesis and sex development. 61
17875487 2007
340
Consequences of the ESPE/LWPES guidelines for diagnosis and treatment of disorders of sex development. 61
17875484 2007
341
Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: a new syndrome? 61
17702017 2007
342
[New definitions and classifications of the intersexual states: in which the Chicago Consensus has contributed to the state of the art?]. 61
17934671 2007
343
Gender role behavior in children with XY karyotype and disorders of sex development. 61
17306800 2007
344
Normal female phenotype and ovarian development despite the ovarian expression of the sex-determining region of Y chromosome (SRY) in a 46,XX/69,XXY diploid/triploid mosaic child conceived after in vitro fertilization-intracytoplasmic sperm injection. 61
17164312 2007
345
P450c17 deficiency: clinical and molecular characterization of six patients. 61
17192295 2007
346
The cytogenetic analysis of some disorder of sex development. 61
13894008 1961

Variations for Sex Development Disorder

Copy number variations for Sex Development Disorder from CNVD:

7 (showing 37, show less)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 13403 1 1 2300000 Loss Disorders of sex development
2 45069 10 6700000 12300000 Gain Disorders of sex development
3 53565 11 31000000 36400000 Deletion Disorders of sex development
4 61487 12 1 14800000 Loss Disorders of sex development
5 69082 12 5300000 12600000 Loss Disorders of sex development
6 94767 15 70400000 76100000 Deletion Disorders of sex development
7 99613 16 27600000 34400000 Loss Disorders of sex development
8 99626 16 27600000 38200000 Loss Disorders of sex development
9 106266 16 87200000 88827254 Gain Disorders of sex development
10 116517 17 67628755 67634155 Deletion,duplication SOX9 Disorders of sex development
11 116817 17 70117160 70122552 Copy number SOX9 Disorders of sex development
12 127259 19 30200000 40300000 Loss Disorders of sex development
13 149722 2 91200000 148400000 Loss Disorders of sex development
14 160818 22 16300000 24300000 Deletion,duplication Disorders of sex development
15 164421 22 36698264 36713375 Duplication SOX10 Disorders of sex development
16 169168 3 138663066 138665982 Copy number FOXL2 Disorders of sex development
17 169335 3 140145755 140148491 Deletion FOXL2 Disorders of sex development
18 184843 4 182600000 191273063 Gain Disorders of sex development
19 191463 5 1 18500000 Gain Disorders of sex development
20 202448 5 8200000 15100000 Gain Disorders of sex development
21 217055 7 1 2100000 Gain Disorders of sex development
22 225333 7 4500000 7200000 Loss Disorders of sex development
23 230738 8 1 16700000 Loss Disorders of sex development
24 232363 8 11571876 11654918 Deletion GATA4 Disorders of sex development
25 237246 8 2200000 6200000 Gain Disorders of sex development
26 237468 8 23300000 66100000 Loss Disorders of sex development
27 244859 9 1 14100000 Loss Disorders of sex development
28 244899 9 1 2200000 Loss Disorders of sex development
29 244981 9 1 9000000 Deletion Disorders of sex development
30 244991 9 1 9000000 Loss Disorders of sex development
31 247197 9 129300000 140273252 Deletion LMX1B Disorders of sex development
32 247198 9 129300000 140273252 Deletion NR5A1 Disorders of sex development
33 259643 X 139412817 139414891 Deletion,duplication SOX3 Disorders of sex development
34 260237 X 146900000 154913754 Gain Disorders of sex development
35 260238 X 146900000 154913754 Gain Disorders of sex development
36 262028 X 29400000 31500000 Deletion,duplication NR0B1 Disorders of sex development
37 264431 X 65100000 67700000 Gain Disorders of sex development

Expression for Sex Development Disorder

Search GEO for disease gene expression data for Sex Development Disorder.

Pathways for Sex Development Disorder

Pathways related to Sex Development Disorder according to GeneCards Suite gene sharing:

(showing 14, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.68 POMC NR5A1 INS HSD3B2 CYP21A2 CYP17A1
2
Show member pathways
12.29 PRL LHCGR INS CYP17A1
3 11.73 POMC HSD3B2 CYP21A2 CYP11A1
4
Show member pathways
11.52 SRD5A2 HSD3B2 HSD17B3 CYP21A2 CYP19A1 CYP17A1
5
Show member pathways
11.36 HSD3B2 HSD17B3 CYP19A1 CYP17A1
6 11.32 IGF1 CYP19A1 AR
7 11.19 LHCGR INS IGF1 HSD3B2 CYP19A1 CYP17A1
8
Show member pathways
11.17 SRD5A2 POMC HSD3B2 HSD17B3 CYP21A2 CYP19A1
9 11.16 NR5A1 LHCGR CYP19A1
10 10.91 PRL POMC INS
11
Show member pathways
10.9 SRD5A2 HSD17B3 CYP21A2 CYP17A1
12 10.84 SHBG GNRH1 AR
13 10.64 LHCGR GNRH1
14 10.55 AMHR2 AMH

GO Terms for Sex Development Disorder

Cellular components related to Sex Development Disorder according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 9.5 SRD5A2 HSD3B2 HSD17B3 DENND1A CYP21A2 CYP19A1
2 organelle membrane GO:0031090 8.92 SRD5A2 CYP21A2 CYP19A1 CYP17A1

Biological processes related to Sex Development Disorder according to GeneCards Suite gene sharing:

(showing 20, show less)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 10 SRD5A2 HSD3B2 HSD17B3 CYP21A2 CYP19A1 CYP17A1
2 positive regulation of gene expression GO:0010628 9.97 NR5A1 INS IGF1 AR AMH
3 cell-cell signaling GO:0007267 9.87 SRD5A2 POMC INSL3 INS GNRH1 AR
4 steroid metabolic process GO:0008202 9.81 SRD5A2 CYP21A2 CYP17A1 CYP11A1
5 male gonad development GO:0008584 9.8 SRD5A2 NR5A1 LHCGR AR AMHR2
6 sterol metabolic process GO:0016125 9.67 CYP21A2 CYP19A1 CYP11A1
7 female gonad development GO:0008585 9.65 NR5A1 CYP19A1 AMHR2
8 male genitalia development GO:0030539 9.61 SRD5A2 LHCGR HSD17B3
9 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.59 IGF1 AR
10 male sex determination GO:0030238 9.58 NR5A1 GNRH1
11 sex determination GO:0007530 9.57 NR5A1 AMH
12 prostate gland growth GO:0060736 9.56 CYP19A1 AR
13 glucocorticoid biosynthetic process GO:0006704 9.56 HSD3B2 CYP21A2 CYP17A1 CYP11A1
14 C21-steroid hormone metabolic process GO:0008207 9.55 HSD3B2 CYP11A1
15 mineralocorticoid biosynthetic process GO:0006705 9.54 HSD3B2 CYP21A2
16 testosterone biosynthetic process GO:0061370 9.54 SRD5A2 HSD17B3 CYP19A1
17 Mullerian duct regression GO:0001880 9.52 AMHR2 AMH
18 androgen biosynthetic process GO:0006702 9.46 SRD5A2 HSD3B2 HSD17B3 CYP17A1
19 sex differentiation GO:0007548 9.35 SRD5A2 CYP17A1 AR AMHR2 AMH
20 steroid biosynthetic process GO:0006694 9.17 SRD5A2 HSD3B2 HSD17B3 CYP21A2 CYP19A1 CYP17A1

Molecular functions related to Sex Development Disorder according to GeneCards Suite gene sharing:

(showing 10, show less)
# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.83 SHBG NR5A1 DENND1A CYP21A2 AR
2 heme binding GO:0020037 9.71 CYP21A2 CYP19A1 CYP17A1 CYP11A1
3 iron ion binding GO:0005506 9.67 CYP21A2 CYP19A1 CYP17A1 CYP11A1
4 steroid binding GO:0005496 9.5 SHBG CYP21A2 AR
5 oxidoreductase activity GO:0016491 9.5 SRD5A2 HSD3B2 HSD17B3 CYP21A2 CYP19A1 CYP17A1
6 insulin-like growth factor receptor binding GO:0005159 9.48 INS IGF1
7 androgen binding GO:0005497 9.46 SHBG AR
8 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.46 CYP21A2 CYP19A1 CYP17A1 CYP11A1
9 insulin receptor binding GO:0005158 9.43 INSL3 INS IGF1
10 hormone activity GO:0005179 9.17 PRL POMC INSL3 INS IGF1 GNRH1

Sources for Sex Development Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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