MCID: MXD016
MIFTS: 35

Mixed Gonadal Dysgenesis

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

Aliases & Classifications for Mixed Gonadal Dysgenesis

MalaCards integrated aliases for Mixed Gonadal Dysgenesis:

Name: Mixed Gonadal Dysgenesis 12 15
Gonadal Dysgenesis Mixed 74 52 54
Gonadal Dysgenesis, Mixed 43 71

Classifications:



External Ids:

Disease Ontology 12 DOID:14449
MeSH 43 D006060
NCIt 49 C120199
SNOMED-CT 67 83579008
UMLS 71 C0018055

Summaries for Mixed Gonadal Dysgenesis

Disease Ontology : 12 A gonadal dysgenesis that is characterized by progressive loss of primordial cells on the developing glands of an embryo, leading to extremely hypoplastic and dysfuctioning gonads resulting in one differentiated gonad and either a streak gonad or streak testis.

MalaCards based summary : Mixed Gonadal Dysgenesis, also known as gonadal dysgenesis mixed, is related to 45,x/46,xy mixed gonadal dysgenesis and turner syndrome. An important gene associated with Mixed Gonadal Dysgenesis is SRY (Sex Determining Region Y), and among its related pathways/superpathways are Steroid hormone biosynthesis and superpathway of steroid hormone biosynthesis. Affiliated tissues include testis, ovary and uterus, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 74 45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis, is a rare disorder of... more...

Related Diseases for Mixed Gonadal Dysgenesis

Diseases in the Mixed Gonadal Dysgenesis family:

45,x/46,xy Mixed Gonadal Dysgenesis

Diseases related to Mixed Gonadal Dysgenesis via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 108, show less)
# Related Disease Score Top Affiliating Genes
1 45,x/46,xy mixed gonadal dysgenesis 34.0 SRY MIR302C DHH AMH
2 turner syndrome 30.9 SRY CYP21A2 AMH
3 germinoma 30.3 KIT CYP21A2 CGB5
4 hermaphroditism 30.2 SRY SOX9 FOXL2 AMHR2 AMH
5 dysgerminoma 30.0 SRY MIR302C KIT FOXL2
6 hypospadias 29.9 SRY SRD5A1 SOX9 NR5A1
7 polycystic ovary syndrome 29.6 SRD5A1 CYP21A2 AMH
8 gonadal dysgenesis 29.5 SRY SOX9 NR5A1 KIT FOXL2 DHH
9 gonadoblastoma 29.5 SRY SOX9 NR5A1 KIT FOXL2 CGB5
10 46,xy partial gonadal dysgenesis 29.4 SRY SOX9 NR5A1 DHH
11 wilms tumor 1 29.3 SRY SOX9 NR5A1 KIT
12 lipoid congenital adrenal hyperplasia 29.2 SRD5A1 NR5A1 CYP21A2 AMH
13 46,xx sex reversal 28.8 SRY SOX9 NR5A1 FOXL2 DHH AMH
14 male infertility 28.6 SRY NR5A1 DAZ4 CYP21A2 AZF1
15 androgen insensitivity syndrome 28.6 SRY SRD5A1 NR5A1 DHRS11 AMH
16 disorders of sexual development 28.2 SOX9 NR5A1 FOXL2 DHRS11 DHH CYP21A2
17 pseudohermaphroditism 28.2 SRY SRD5A1 NR5A1 DHRS11 CYP21A2 AMHR2
18 cryptorchidism, unilateral or bilateral 27.3 SRD5A1 SOX9 NR5A1 KIT DHRS11 DHH
19 47,xyy 10.4
20 amenorrhea 10.4
21 seminoma 10.4
22 46,xy sex reversal 1 10.4 SRY SOX9
23 hypogonadism 10.4
24 corpus luteum cyst 10.3 FOXL2 CGB5
25 testicular gonadoblastoma 10.3 KIT AMH
26 azoospermia 10.3
27 testicular torsion 10.3 CGB5 AMH
28 persistent mullerian duct syndrome, types i and ii 10.3 AMHR2 AMH
29 ovarian gonadoblastoma 10.3 SOX9 KIT
30 mullerian aplasia and hyperandrogenism 10.2 FOXL2 AMH
31 premature menopause 10.2 FOXL2 AMH
32 denys-drash syndrome 10.2
33 impotence 10.2
34 infertility 10.2
35 germ cells tumors 10.2
36 sex chromosome disorder of sex development 10.2
37 teratoma 10.1 KIT CGB5 AMH
38 luteoma 10.1 FOXL2 CYP21A2
39 juvenile type testicular granulosa cell tumor 10.0 MIR302C FOXL2
40 testicular granulosa cell tumor 10.0 MIR302C FOXL2
41 aortic valve disease 1 10.0
42 coarctation of aorta 10.0
43 hypertelorism 10.0
44 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 10.0
45 hemochromatosis, type 1 10.0
46 insulin-like growth factor i 10.0
47 wilms tumor 5 10.0
48 meningioma, radiation-induced 10.0
49 46,xy gonadal dysgenesis, partial, with minifascicular neuropathy 10.0
50 meningioma, familial 10.0
51 endometrial cancer 10.0
52 scoliosis 10.0
53 inguinal hernia 10.0
54 spinal meningioma 10.0
55 nephrotic syndrome 10.0
56 polyneuropathy 10.0
57 leydig cell tumor 10.0
58 endometrial adenocarcinoma 10.0
59 aortic aneurysm 10.0
60 clear cell adenocarcinoma 10.0
61 secretory meningioma 10.0
62 lymphoplasmacyte-rich meningioma 10.0
63 petroclival meningioma 10.0
64 46, xy disorders of sexual development 10.0
65 48,xyyy 10.0
66 aberrant subclavian artery 10.0
67 diffuse mesangial sclerosis 10.0
68 dwarfism 10.0
69 growth hormone deficiency 10.0
70 horseshoe kidney 10.0
71 precocious puberty 10.0
72 aneurysm 10.0
73 transverse vaginal septum 10.0
74 46,xy ovotesticular disorder of sex development 10.0
75 gonadal germ cell tumor 10.0
76 syndrome with 46,xy disorder of sex development 10.0
77 posterior hypospadias 10.0
78 right aortic arch 10.0
79 alopecia, androgenetic, 1 10.0 SRD5A1 CYP21A2
80 ovarian germ cell cancer 10.0 MIR302C KIT
81 plexiform neurofibroma 9.9 KIT DHH
82 microcystic stromal tumor 9.9 NR5A1 FOXL2
83 cortisone reductase deficiency 9.9 SRD5A1 CYP21A2
84 malignant teratoma 9.9 MIR302C KIT CGB5
85 mature teratoma 9.9 MIR302C KIT
86 ovarian sex-cord stromal tumor 9.8 NR5A1 FOXL2
87 anorchia 9.8 SRY NR5A1 CGB5
88 nonsyndromic disorders of testicular development 9.8 SRY NR5A1 DHH
89 46,xx sex reversal 1 9.8 SRY SOX9 NR5A1
90 46,xy sex reversal 9 9.8 SOX9 NR5A1 AMH
91 frasier syndrome 9.8 SRY SOX9 NR5A1
92 adrenal rest tumor 9.8 NR5A1 CYP21A2
93 campomelic dysplasia 9.8 SRY SOX9 NR5A1
94 corticosterone methyloxidase type i deficiency 9.7 NR5A1 CYP21A2
95 chondrodysplasia-pseudohermaphroditism syndrome 9.7 SOX9 NR5A1 FOXL2
96 46 xx gonadal dysgenesis 9.7 NR5A1 FOXL2 AMH
97 sex cord-gonadal stromal tumor 9.7 NR5A1 FOXL2 AMH
98 gynecomastia 9.7 SRY SRD5A1 CYP21A2 CGB5
99 blepharophimosis, ptosis, and epicanthus inversus 9.7 NR5A1 FOXL2
100 anovulation 9.7 SRD5A1 CYP21A2 AMHR2 AMH
101 steroid inherited metabolic disorder 9.6 NR5A1 CYP21A2 AMH
102 adrenal cortical hypofunction 9.6 NR5A1 CYP21A2
103 sertoli-leydig cell tumor 9.5 MIR302C FOXL2
104 premature ovarian failure 1 9.3 SOX9 NR5A1 FOXL2 AMHR2 AMH
105 persistent mullerian duct syndrome 9.2 SOX9 NR5A1 CYP21A2 AMHR2 AMH
106 46,xy sex reversal 2 9.2 SOX9 NR5A1 FOXL2 CYP21A2 AMH
107 embryonal carcinoma 9.1 NR5A1 MIR302C KIT
108 46,xy sex reversal 8.8 SRY SOX9 NR5A1 FOXL2 DHH CYP21A2

Graphical network of the top 20 diseases related to Mixed Gonadal Dysgenesis:



Diseases related to Mixed Gonadal Dysgenesis

Symptoms & Phenotypes for Mixed Gonadal Dysgenesis

GenomeRNAi Phenotypes related to Mixed Gonadal Dysgenesis according to GeneCards Suite gene sharing:

26 (showing 11, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-102 9.36 KIT
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.36 SRD5A1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-122 9.36 FOXL2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-125 9.36 FOXL2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-149 9.36 FOXL2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.36 KIT
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.36 KIT
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 9.36 KIT
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-67 9.36 FOXL2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-9 9.36 FOXL2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-96 9.36 SRD5A1

MGI Mouse Phenotypes related to Mixed Gonadal Dysgenesis:

45 (showing 2, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.56 AMH AMHR2 DHH FOXL2 KIT NR5A1
2 reproductive system MP:0005389 9.23 AMH AMHR2 DHH FOXL2 KIT NR5A1

Drugs & Therapeutics for Mixed Gonadal Dysgenesis

Search Clinical Trials , NIH Clinical Center for Mixed Gonadal Dysgenesis

Cochrane evidence based reviews: gonadal dysgenesis, mixed

Genetic Tests for Mixed Gonadal Dysgenesis

Anatomical Context for Mixed Gonadal Dysgenesis

MalaCards organs/tissues related to Mixed Gonadal Dysgenesis:

40
Testis, Ovary, Uterus, Prostate, Testes, Colon, Cervix

Publications for Mixed Gonadal Dysgenesis

Articles related to Mixed Gonadal Dysgenesis:

(showing 346, show less)
# Title Authors PMID Year
1
Masculinizing genitoplasty in intersex patients. 54 61
16148681 2005
2
Molecular evaluation of the SRY gene for gonads of patients with mixed gonadal dysgenesis. 54 61
16045561 2005
3
Screening for mutations in the SRY gene in patients with mixed gonadal dysgenesis or with Turner syndrome and Y mosaicism. 61 54
15223166 2004
4
Molecular analysis of SRY gene in patients with mixed gonadal dysgenesis. 54 61
11694229 2001
5
Sry gene detection in gonads of intersex patients using FISH. 61 54
9250915 1997
6
[Association of mixed gonadal dysgenesis and non-classic 21-hydroxylase deficiency]. 61 54
9033792 1996
7
Use of laparoscopy in intersex patients. 54 61
7637087 1995
8
Community perspectives on difference of sex development (DSD) diagnoses: A crowdsourced survey. 61
32409277 2020
9
Pubertal outcomes and sex of rearing of patients with ovotesticular disorder of sex development and mixed gonadal dysgenesis. 61
31905442 2019
10
Clinical management in mixed gonadal dysgenesis with chromosomal mosaicism: Considerations in newborns and adolescents. 61
31668295 2019
11
Disorders of Sex Development: A 10 Years Experience with 73 Cases from the Kashmir Valley. 61
31803600 2019
12
[Ambiguous genitalia in newborn: Mixed gonadal dysgenesis?] 61
29866500 2019
13
Cytogenetic profile of patients with clinical spectrum of ambiguous genitalia, amenorrhea, and Turner phenotype: A 21-year single-center experience. 61
31207162 2019
14
Frequency of Ambiguous Genitalia in 14,177 Newborns in Turkey. 61
31139765 2019
15
Growth data and tumour risk of 32 Chinese children and adolescents with 45,X/46,XY mosaicism. 61
31060547 2019
16
Gonadoblastoma Y locus genes expressed in germ cells of individuals with dysgenetic gonads and a Y chromosome in their karyotypes include DDX3Y and TSPY. 61
30753444 2019
17
Malignant Leydig Cell Tumor in Elderly Complete Androgen Insensitivity Patient: A Case Report. 61
31477948 2019
18
Gonadal Tissue Cryopreservation for Children with Differences of Sex Development. 61
31509845 2019
19
The spectrum of 45,X/46,XY mosaicism in Taiwanese children: The experience of a single center. 61
30017534 2019
20
Ambiguous genitalia: An overview of 7 years experience at the Children's Hospital & Institute of Child Health, Lahore, Pakistan. 61
30881414 2019
21
Uterus in mixed gonadal dysgenesis was detected by continuous irregular vaginal bleeding. 61
31666766 2019
22
Clinical Findings and Follow-Up of 46,XY and 45,X/46,XY Testicular Dysgenesis. 61
31816618 2019
23
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
24
THE RARE CASE OF MIXED GONADAL DYSGENESIS, MOSAIC KARYOTYPE, PETROCLIVAL MENINGIOMA AND IDIOPATHIC HYPERDEHYDROEPIANDROSTERONISM. 61
31149308 2018
25
Disorders of sex development: a study of 194 cases. 61
29386228 2018
26
The Mosaicism Ratio of 45,X May Explain the Phenotype in a Case of Mixed Gonadal Dysgenesis. 61
29879705 2018
27
Early development of a gonadal tumor in a patient with mixed gonadal dysgenesis. 61
30624506 2018
28
Genetic diagnostics of male infertility in clinical practice. 61
28601348 2017
29
45,X/46,XY ovotesticular disorder of sex development revisited: undifferentiated gonadal tissue may be mistaken as ovarian tissue. 61
28742519 2017
30
Gonadal tumour risk in 292 phenotypic female patients with disorders of sex development containing Y chromosome or Y-derived sequence. 61
27862157 2017
31
A Case of Chromosomal Disorders of Sex Development with Transverse Testicular Ectopia Mimicking Mixed Gonadal Dysgenesis. 61
27765586 2017
32
Presence of Germ Cells in Disorders of Sex Development: Implications for Fertility Potential and Preservation. 61
27840018 2017
33
Painful ovulation in a 46,XX SRY -ve adult male with SOX9 duplication. 61
28620497 2017
34
Fertility in disorders of sex development: A review. 61
27856173 2016
35
Scrotal abscess: Varied etiology, associations, and management. 61
27695207 2016
36
Retraction: Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene. 61
27777913 2016
37
Mixed gonadal dysgenesis in Yaoundé: A preliminary experience about three cases. 61
27502884 2016
38
[Clinical and genetic analysis for a patient with 45, X/46, X, Yqh- and mixed gonadal dysgenesis]. 61
27060319 2016
39
Mixed Gonadal Dysgenesis with an unusual "inverted" Y chromosome. 61
27941186 2016
40
408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing. 61
28018429 2016
41
Gonadal malignancy in 202 female patients with disorders of sex development containing Y-chromosome material. 61
26608236 2016
42
Ambiguous genitalia: A rare case report. 61
26960641 2016
43
Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene. 61
26817010 2015
44
[The diagnosis, treatment and following up of 7 patients with 45, X/46, XY mixed gonadal dysgenesis]. 61
26759215 2015
45
Gonadal malignancy risk and prophylactic gonadectomy in disorders of sexual development. 61
25879315 2015
46
Identification of X monosomy cells from a gonad of mixed gonadal dysgenesis with a 46,XY karyotype: case report. 61
25860218 2015
47
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
48
A rare case of mixed gonadal dysgenesis with mosaicism 45, X/46, X, +mar. 61
25569267 2015
49
45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study. 61
25351753 2014
50
Etiological diagnosis of undervirilized male/XY disorder of sex development. 61
25327912 2014
51
Impact of laparoscopy for diagnosis and treatment in patients with disorders of sex development. 61
24768569 2014
52
Increased risk of gonadal malignancy and prophylactic gonadectomy: a study of 102 phenotypic female patients with Y chromosome or Y-derived sequences. 61
24826988 2014
53
Ovotesticular disorder of sexual development due to 47,XYY/46,XY/45,X mixed gonadal dysgenesis in a phenotypic male presenting as cyclical haematuria: clinical presentation and assessment of long-term outcomes. 61
23163819 2014
54
45,X/46,XY mixed gonadal dysgenesis: A case of successful sperm extraction. 61
24554973 2014
55
Vaginoplasty using the inner surface or mucosa of the prepuce in children with congenital adrenal hyperplasia. 61
23518203 2013
56
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
57
A rare case report of 46XY mixed gonadal dysgenesis. 61
24251183 2013
58
Ovarian Gonadoblastoma with Dysgerminoma in a Young Girl with 46, XX Karyotype: A Case Report. 61
24179931 2013
59
In vitro and molecular modeling analysis of two mutant desert hedgehog proteins associated with 46,XY gonadal dysgenesis. 61
23786321 2013
60
Mixed gonadal dysgenesis in a patient with de novo tas(Y;19)(p11.3;q13.4) and 45,X mosaicism. 61
23652939 2013
61
Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies. 61
22281282 2013
62
Utility of OCT3/4, TSPY and β-catenin as biological markers for gonadoblastoma formation and malignant germ cell tumor development in dysgenetic gonads. 61
23396295 2013
63
Laparoscopy versus ultrasonography for the evaluation of Mullerian structures in children with complex disorders of sex development. 61
23064803 2012
64
Gender dysphoria associated with disorders of sex development. 61
23045263 2012
65
The use of fluorescence in situ hybridization in the diagnosis of hidden mosaicism: apropos of three cases of sex chromosome anomalies. 61
23295296 2012
66
The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does "disorders of sexual development (DSD)" classification based on new Chicago consensus cover all sex chromosome DSD? 61
22644991 2012
67
Isodicentric Y chromosomes in Egyptian patients with disorders of sex development (DSD). 61
22628100 2012
68
Managing disorder of sexual development surgically: A single center experience. 61
23204656 2012
69
Müllerian remnant malignancy. 61
22245297 2012
70
[Dysgenetic male pseudohermaphroditism]. 61
22330842 2012
71
Molecular analysis of ring y chromosome in a 10-year-old boy with mixed gonadal dysgenesis and growth hormone deficiency. 61
24052714 2011
72
Mixed gonadal dysgenesis: whole life follow-up of a rare case. 61
22073950 2011
73
Mixed gonadal dysgenesis with 45,X/46,X,idic(Y) karyotype: a case report. 61
21934259 2011
74
45,X/46,XY mosaicisme: report of five cases and clinical review. 61
21640978 2011
75
Long-term follow-up after feminizing genital reconstruction in patients with ambiguous genitalia and high vaginal confluence. 61
21394309 2011
76
Ascending aortic aneurysm in a patient with mixed gonadal dysgenesis. 61
21130980 2011
77
Unexpected finding of an intact distal vagina in an infant with mixed gonadal dysgenesis. 61
22145487 2011
78
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
79
Atypical presentation and management dilemma of mixed gonadal dysgenesis. 61
20637459 2011
80
Long-term psychosocial adjustments, satisfaction related to gender and the family equations in disorders of sexual differentiation with male sex assignment. 61
20623291 2010
81
A study of gender outcome of Egyptian patients with 46,XY disorder of sex development. 61
20664246 2010
82
Mixed gonadal dysgenesis in a child with isodicentric Y chromosome: Does the relative proportion of the 45,X line really matter? 61
20583182 2010
83
Mixed gonadal dysgenesis with normal karyotype: a rare case report. 61
20551542 2010
84
Surgical options in disorders of sex development (dsd) with ambiguous genitalia. 61
20541154 2010
85
46,XY and 45,X/46,XY testicular dysgenesis: similar gonadal and genital phenotype, different prognosis. 61
20520965 2010
86
Morphology and immunophenotyping of a monolateral ovotestis in a 46,XderY/45,X mosaic individual with ambiguous genitalia. 61
19952940 2010
87
Mixed gonadal dysgenesis in a 45,X neonate with chromosome Y material in the dysgenetic gonad. 61
20101895 2009
88
Long-term outcome of vaginoplasty with the bilateral labioscrotal flap. 61
19692073 2009
89
Long term follow-up of a child with ambiguous genitalia, mixed gonadal dysgenesis, and unusual mosaicism. 61
19960897 2009
90
Long-term physical, hormonal, and sexual outcome of males with disorders of sex development. 61
19635293 2009
91
Transfer of surgical competences in the treatment of intersex disorders in Togo. 61
19661635 2009
92
Gender dysphoria and gender change in an adolescent with 45,X/46,XY mixed gonadal dysgenesis. 61
19085701 2009
93
[Mixed gonadal dysgenesis combined with gonadoblastoma]. 61
20198767 2009
94
Mix gonadal dysgenesis associated with ring Y chromosome mosaics in a phenotypic male. 61
19752596 2009
95
Mixed gonadal dysgenesis with 45,X/46,X,idic(Y)/46,XY,idic(Y) karyotype. 61
19650415 2009
96
[Diagnosis and management of 46,XY mixed gonadal dysgenesis and disorder of sexual differentiation]. 61
19535881 2009
97
Laparoscopic diagnosis and treatment of a phenotypic girl with mosaic 45,XO/46,X,idic(Y) mixed gonadal dysgenesis. 61
19159702 2009
98
The incidence of disorders of sexual differentiation and chromosomal abnormalities of cryptorchidism and hypospadias stratified by meatal location. 61
18951572 2008
99
Gender assignment and hormonal treatment for disorders of sexual differentiation. 61
18704450 2008
100
Perineal mobilization of the common urogenital sinus for surgical correction of high urethrovaginal confluence in patients with intersex disorders. 61
18790419 2008
101
Prostate screening in patients with 46,XY disorders of sex development--is it necessary? 61
18710761 2008
102
[Molecular and cytogenetic study on 5 cases with gonadal dysgenesis: clinical applications of fluorescence in situ hybridization(FISH) and BAC-FISH]. 61
18841574 2008
103
Short stature in a phenotypic male caused by mixed gonadal dysgenesis. 61
18648333 2008
104
Participation of OCT3/4 and beta-catenin during dysgenetic gonadal malignant transformation. 61
18295396 2008
105
Gonadal mosaicism 45,X/46,X,psu dic(Y)(q11.2) resulting in a Turner phenotype with mixed gonadal dysgenesis. 61
18418530 2008
106
[Low stature in males with normal phenotype and 45,X/46,XY mosaicism]. 61
18341880 2008
107
Long-term outcome of disorders of sex development. 61
18987501 2008
108
Mixed gonadal dysgenesis and Denys-Drash syndrome: urologists should screen for nephrotic syndrome. 61
18163932 2007
109
Laparoscopic excision of Mullerian structures in a neonate with mixed gonadal dysgenesis: a case report. 61
18158817 2007
110
Scrotal hysterectomy in a male patient with mixed gonadal dysgenesis 46,XY(75%)/45,X(25%). 61
18158064 2007
111
Primary amenorrhea in a young Polish woman with complete androgen insensitivity syndrome and Sertoli-Leydig cell tumor: identification of a new androgen receptor gene mutation and evidence of aromatase hyperactivity and apoptosis dysregulation within the tumor. 61
17852420 2007
112
Long-term outcome of vaginal reconstruction: comparing techniques and timing. 61
18947763 2007
113
[Mixed gonadal dysgenesis associated with an isodicentric Y chromosome]. 61
17686676 2007
114
Diagnosis of Sex Chromosome Disorders and Prenatal Diagnosis of Down Syndrome using Interphase Fluorescent In-Situ Hyperidization Technique. 61
21475429 2007
115
A Gender Assessment Team: experience with 250 patients over a period of 25 years. 61
17575501 2007
116
Dysgerminoma in three patients with Swyer syndrome. 61
17587461 2007
117
Ambiguous genitalia: an overview of 17 years' experience. 61
17502195 2007
118
Disorders of gonadal development: a broad clinical, cytogenetic and histopathologic spectrum. 61
17551482 2007
119
[Quality of life in the patients with disorders of sexual development and with Y chromosome in karyotype]. 61
17419302 2007
120
[Psychosexual aspects of intersex syndromes]. 61
16835789 2006
121
[Mixed gonadal dysgenesis]. 61
16817460 2006
122
The use of laparoscopy in intersex patients. 61
16521001 2006
123
Gonadoblastoma with contralateral dysgerminoma in a young female--a case report. 61
16933739 2006
124
Isodicentric Y (p11.32) chromosome in an infant with mixed gonadal dysgenesis. 61
16530711 2006
125
Limitations of G-banding Karyotype Analysis with Peripheral Lymphocytes in Diagnosing Mixed Gonadal Dysgenesis. 61
24790330 2006
126
Epidemiology and initial management of ambiguous genitalia at birth in Germany. 61
16877870 2006
127
[Diagnostic principles of gonadal dysgenesis in adolescents]. 61
16369057 2005
128
A heterozygous mutation in the desert hedgehog gene in patients with mixed gonadal dysgenesis. 61
16390857 2005
129
Ectopically located gonads in a patient with mixed gonadal dysgenesis: detection by diffusion-weighted MRI. 61
16132436 2005
130
Unusual mixed gonadal dysgenesis associated with Müllerian duct persistence, polygonadia, and a 45,X/46,X,idic(Y)(p) karyotype. 61
16007601 2005
131
Gender identity and sex-of-rearing in children with disorders of sexual differentiation. 61
16042322 2005
132
Evaluation and management of the abnormal gonad. 61
15846569 2005
133
A 7-year experience of genetic males with severe phallic inadequacy assigned female. 61
15538277 2004
134
[Hermaphroditism pathology]. 61
15785398 2004
135
Feminising surgery in male pseudohermaphrodites. 61
15221366 2004
136
Feminizing genital reconstruction: experience with 52 cases of ambiguous genitalia. 61
15211407 2004
137
Bilateral gonadoblastomas in a dog with mixed gonadal dysgenesis. 61
15003485 2004
138
[Mixed gonadal dysgenesis]. 61
14968538 2004
139
Laparoscopic removal of müllerian duct remnants in boys. 61
14665932 2004
140
Fragile X and mosaic 45,X/46,XY mixed gonadal dysgenesis in a girl with ambiguous genitalia. 61
14699624 2004
141
Seminoma and a gonadoblastoma in an infant with mixed gonadal dysgenesis. 61
12915842 2003
142
Pediatric surgical images: mixed gonadal dysgenesis. 61
12778409 2003
143
Bilateral seminomas in a 45X/46XY mosaic with Turner's phenotype: an unusual case of mixed gonadal dysgenesis. 61
12755523 2003
144
Laparoscopic approach to müllerian derivatives in a male with mixed gonadal dysgenesis. 61
12709622 2003
145
Laparoscopic gonadectomy in a case of a dicentric fluorescent Y-chromosome mosaicism with Turner-like phenotype and virilized external genitalia. 61
14584649 2003
146
46,XY gonadal dysgenesis: evidence for autosomal dominant transmission in a large kindred. 61
12476449 2003
147
Early manifestations of testicular dysgenesis in children: pathological phenotypes, karyotype correlations and precursor stages of tumour development. 61
12760349 2003
148
True hermaphroditism and mixed gonadal dysgenesis in young children: a clinicopathologic study of 10 cases. 61
12379746 2002
149
The character of variant persistent müllerian-duct structures. 61
12415380 2002
150
Vaginal reconstruction for ambiguous genitalia and congenital absence of the vagina: a 27-year experience. 61
12077748 2002
151
Vaginal reconstruction utilizing sigmoid colon: Complications and long-term results. 61
11912524 2002
152
Mixed gonadal dysgenesis and precocious puberty. 61
12169778 2002
153
Ambiguous genitalia, 45,X/46,XY mosaic karyotype, and Y chromosome microdeletions in a 17-year-old man. 61
11730762 2001
154
[Causes of ambiguous external genitalia in neonates]. 61
11534268 2001
155
Twenty-four hour, non-invasive, neonatal chromosome analysis--application in a case of mixed gonadal dysgenesis. 61
11126707 2000
156
Combination of hypospadias and maldescended testis as cardinal symptoms in gonosomal chromosome aberrations. 61
11034519 2000
157
Penoscrotal hypospadias and coarctation of the aorta with mixed gonadal dysgenesis. 61
10786990 2000
158
Monozygotic twins of opposite sex. 61
11173871 2000
159
[Feminizing genital plasty in patients with intersexuality]. 61
10746060 1999
160
Polyneuropathy with minifascicle formation in a patient with 46XY mixed gonadal dysgenesis. 61
10483790 1999
161
Gender identity reversal in an adolescent with mixed gonadal dysgenesis. 61
10703543 1999
162
45,X/46,XY mosaicism: report of 27 cases. 61
10429013 1999
163
FISH and PCR analysis of the presence of Y-chromosome sequences in a patient with Xq-isochromosome and testicular tissue. 61
10422807 1999
164
Risk of gonadoblastoma in female patients with Y chromosome abnormalities and dysgenetic gonads. 61
10365364 1999
165
[Sigmoid neovagina: apropos of 2 cases]. 61
10570862 1999
166
Coarctation of the aorta with right aortic arch: surgical technique and new classification. 61
10320261 1999
167
Hermaphroditism pathology. 61
15847378 1999
168
Mixed gonadal dysgenesis: a syndrome of broad clinical, cytogenetic and histopathologic spectrum. 61
10546094 1999
169
Genetic concerns for the subfertile male in the era of ICSI. 61
9949435 1998
170
[Diagnosis and management of patients with sex differentiation disorders: experience at the Unit of Medical Genetics of the University of Zulia, Maracaibo, Venezuela]. 61
9927802 1998
171
Management quandary. Primary amenorrhea due to mixed gonadal dysgenesis. 61
9806133 1998
172
Laparoscopic gonadectomy in male pseudohermaphrodites. 61
9846711 1998
173
Discordant phenotypes and 45,X/46,X,idic(Y). 61
9783714 1998
174
Anterior sagittal transanorectal approach to the posterior urethra in the pediatric age group. 61
9719303 1998
175
Pathogenetics of 45,X/46,XY gonadal mosaicism. 61
9763660 1998
176
Experience of Laparoscopic Exploration and Gonadectomy in lntersex Children. 61
18493463 1998
177
[Disorders of sex chromosome]. 61
9396296 1997
178
A Turner-like phenotype in a girl with an isodicentric fluorescent Y chromosome mosaicism. 61
9183775 1997
179
Presence of Turner stigmata in a case of dysgenetic male pseudohermaphroditism with 45,X/46,X+mar karyotype. 61
9135271 1997
180
Genital anomalies in human and animal models reveal the mechanisms and hormones governing testicular descent. 61
9043507 1997
181
Characterization of an isodicentric Y-chromosome for the long arm in a newborn with mixed gonadal dysgenesis. 61
9150844 1997
182
[The mixed gonadal dysgenesis. Diagnostic criteria and surgical treatment]. 61
9131963 1997
183
An infant with a mosaic 45,X/46,X,psu dic(Y) (pter-->q11.2::q11.2-->pter) karyotype and mixed gonadal dysgenesis studied for extent of mosaicism in the gonads. 61
8989464 1996
184
Mixed gonadal dysgenesis: histological and ultrastructural findings in two cases. 61
8811390 1996
185
Characterization by fluorescence and electron microscopy in situ hybridization of a double Y isochromosome. 61
8737651 1996
186
Distribution of marker-Y chromosome containing cells in different tissues of a Turner mosaic patient with mixed gonadal dysgenesis. 61
8832135 1996
187
Ambiguous genitalia in an elderly woman with a mosaic 45,X/46,X,dic(Y)(Q11.2) karyotype. 61
8607249 1996
188
Mixed gonadal dysgenesis with gonadoblastoma in a female with Y chromosome: case report. 61
8624888 1996
189
Hydrocolpos in an 18-year-old man with mixed gonadal dysgenesis. 61
7673457 1995
190
Mixed gonadal dysgenesis and dysgenetic male pseudohermaphroditism. 61
7869527 1995
191
Measurement of pudendal evoked potentials during feminizing genitoplasty: technique and applications. 61
7815630 1995
192
Y Chromosomal Sequences Identified in Gonadal Tissue of Two 45,X Patients with Turner Syndrome. 61
12114813 1995
193
Ambiguous genitalia--etiology, diagnosis, and therapy. 61
7671103 1995
194
Mixed gonadal dysgenesis and cell line differentiation. Case presentation and literature review. 61
7834898 1994
195
Two-stage repair for severe hypospadias. 61
8015102 1994
196
Mixed gonadal dysgenesis with 45, X/46, XX/46, XY mosaicism. 61
8002080 1994
197
[Mixed gonadal dysgenesis--a rare cause of primary infertility. Report of 2 cases and review of the literature]. 61
7941183 1994
198
Mixed gonadal dysgenesis with structural anomalies of the Y chromosome. 61
17586911 1994
199
[Case of mixed gonadal dysgenesis complicated with cerebral hemorrhage and diabetes mellitus]. 61
7964023 1994
200
Gonadal tumors in disorders of sexual differentiation. 61
8154078 1994
201
[Intersexuality and malignancy. Case report of an unreported association between a malignant disease in a child with androgen resistance syndrome in comparison with the most frequently expected malignant tumors in children with intersexuality]. 61
8152207 1994
202
Vaginoplasty: combination therapy using labia minora flaps and lucite dilators--preliminary report. 61
8326616 1993
203
Mixed gonadal dysgenesis: endogenous hormonal effects in the endometrium and histogenesis of germinoma. 61
8372686 1993
204
Mixed gonadal dysgenesis: clinical, cytogenetic, endocrinological, and histopathological findings in 16 patients. 61
8488868 1993
205
A case of mixed gonadal dysgenesis with 45 X/46 XY karyotype and aortic coarctation. 61
8348224 1993
206
[Genetic hemochromatosis and mixed gonadal dysgenesis]. 61
8396303 1993
207
Mixed gonadal dysgenesis associated with unilateral cavernosal fibrosis and presenting as a cystic lower abdominal mass. 61
8262113 1993
208
[Mixed gonadal dysgenesis]. 61
7757765 1993
209
Risk of malignancy in bilateral streak gonads: the role of the Y chromosome. 61
1479492 1992
210
True hermaphrodites: an experimental model in the mouse. 61
1640543 1992
211
[Chromosome abnormalities in hypospadias? An analysis of 131 patients]. 61
1514208 1992
212
Mixed gonadal dysgenesis and dysgenetic male pseudohermaphroditism--a critical analysis. 61
1452268 1992
213
A 46,XY female with mixed gonadal dysgenesis and a 48,XY, +7, +i(12p) chromosome pattern in a primary gonadal tumor. 61
1756501 1991
214
[Mixed gonadal dysgenesis (MGD). Description of a case]. 61
1687695 1991
215
Surgical management of ambiguous genitalia in the infant and child. 61
1895191 1991
216
[Clinical aspects of gonadal dysgenesis]. 61
1782463 1991
217
A t(Y;15) translocation with a deletion of the proximal Yq in a boy with mixed gonadal dysgenesis. 61
2016085 1991
218
Mixed gonadal dysgenesis: case reports and a review of 65 Japanese cases. 61
2009025 1991
219
[Mixed gonadal dysgenesis. Report of 11 cases]. 61
2176561 1990
220
A ZFY-negative 46,XX true hermaphrodite is positive for the Y pseudoautosomal boundary. 61
2227958 1990
221
[Gonadal dysgenesis]. 61
2078886 1990
222
Deoxyribonucleic acid analysis of the zinc finger Y gene in 45,X/46,XY subjects. 61
2379625 1990
223
Mixed gonadal dysgenesis. A review of 15 patients reporting single cases of malignant intratubular germ cell neoplasia of the testis, endometrial adenocarcinoma, and a complex vascular anomaly. 61
2163601 1990
224
Intersex and genital ambiguity. 61
2392705 1990
225
[Sex determination in ambiguous genitalia]. 61
2141710 1990
226
[A study on sex chromosome mosaicism--endocrinological and immunohistochemical findings with glutathion S-transferase in the gonads]. 61
2359212 1990
227
[A case of mixed gonadal dysgenesis: examination of chromosomes in various parts of the body]. 61
2347420 1990
228
Bilateral synchronous tumors in testes in unrecognized mixed gonadal dysgenesis: a case report and review of literature. 61
2405191 1990
229
Clear cell adenocarcinoma of the cervix and vagina in a woman with mixed gonadal dysgenesis. A case report. 61
2621740 1989
230
A case of mixed gonadal dysgenesis (MGD)--with a review of MGD patients reported in Japan. 61
2699336 1989
231
[Mixed gonadal dysgenesis and gonadal tumor--growth of seminoma after 27 years of an exploratory laparotomy]. 61
2692444 1989
232
[Mixed gonadal dysgenesis with plasty in males]. 61
2683656 1989
233
Molecular analysis of 46,XY females and regional assignment of a new Y-chromosome-specific probe. 61
2570023 1989
234
Prenatal diagnosis of 45,X/46,XY mosaicism--a review and update. 61
2664755 1989
235
[Indications for the surgical intervention in endocrine disorders of the ovaries]. 61
3051779 1988
236
[Mixed gonadal dysgenesis]. 61
3153073 1988
237
Clarification of chromosomal abnormalities associated with sexual ambiguity by studies with Y-chromosomal DNA sequences. 61
2837364 1988
238
Dicentric Y chromosome and mixed dysgenesis. 61
2891862 1988
239
Pathology of the testis in intersex syndromes. 61
2895491 1987
240
A unified approach to early reconstructive surgery of the child with ambiguous genitalia. 61
3656565 1987
241
Absence of Y-specific DNA sequences in human 46,XX true hermaphrodites and in 45,X mixed gonadal dysgenesis. 61
3038732 1987
242
Rudimentary testes syndrome revisited. 61
3112728 1987
243
[Mosaicism 45,X/46,X,r/(Y) associated with mixed gonadal dysgenesis. Description of a case and review of the literature]. 61
3320994 1987
244
45,X/46,XY mosaicism. A clinical review and report of ten cases. 61
3595646 1987
245
Neoplastic potential in patients with disorders of sexual differentiation. 61
3031862 1987
246
[Mixed gonadal dysgenesis with seminoma: a case report]. 61
3618436 1987
247
The presence of intersexuality in patients with advanced hypospadias and undescended gonads. 61
2879943 1987
248
Partial androgen receptor deficiency and mixed gonadal dysgenesis in Drash syndrome. 61
3026952 1987
249
Large prostatic utricles and related structures, urogenital sinus and other forms of urethrovaginal confluence. 61
3773103 1986
250
Epithelial ovarian carcinoma in patients with intersex disorders: the role of pituitary gonadotropins in ovarian tumorigenesis. 61
2424810 1986
251
[Sexual ambiguity and non-fluorescent Y chromosome in 45,X/46,XY mosaicism]. 61
3767589 1986
252
Juvenile granulosa cell tumor--another neoplasm associated with abnormal chromosomes and ambiguous genitalia. A report of three cases. 61
4061731 1985
253
[A case of mixed gonadal dysgenesis with structural abnormalities of X chromosome (Xp+)]. 61
4061220 1985
254
[Mixed gonadal dysgenesis. Apropos of a series of 21 cases]. 61
4004479 1985
255
The importance of surgical evaluation of patients with "Turner-like" sex chromosomal abnormalities. 61
3973814 1985
256
Fibroblast androgen receptors in patients with genitourinary anomalies. 61
6501082 1984
257
Perineal reconstruction in ambiguous genitalia infants raised as females. 61
6465986 1984
258
External genital abnormalities associated with Wilms tumor. 61
6147039 1984
259
[A case of mixed gonadal dysgenesis with gonadoblastoma]. 61
6687154 1983
260
H-Y antigen negativity associated with a normal male phenotype. 61
6660975 1983
261
[Malformations of the male genitalia. 1. Asymmetric mixed gonadal dysgenesis (45,X/46,XY-mosaic)]. 61
6645911 1983
262
Correlations between fibroblast androgen receptor levels and clinical features in abnormal male sexual differentiation and infertility. 61
6580856 1983
263
Persistence of Müllerian ducts in male pseudohermaphroditism, and its relationship to cryptorchidism. 61
6136350 1983
264
[Rare case of gonadoblastoma, in mixed gonadal dysgenesis. Unusual morphologic aspects]. 61
6680286 1983
265
Mixed gonadal dysgenesis and sex chromosome mosaicism with multiple cell lines including structural aberrations of the Y chromosome. 61
6682358 1983
266
[Hermaphroditism due to mixed gonadal dysgenesis]. 61
6684876 1983
267
An uncommon case of gonadoblastoma. 61
6873095 1983
268
[DNA content and the size of Y chromosome in a patient with mixed gonadal dysgenesis and 45,X/46,Xt(Y:Y) (pter leads to q12::q12 leads to q11) karyotype]. 61
6892216 1982
269
Dysgenesis of testicular and streak gonads in the syndrome of mixed gonadal dysgenesis: perspective derived from a clinicopathologic analysis of twenty-one cases. 61
7106733 1982
270
[Behavior of the hypothalamo-hypophyseal axis in a patient with asymmetric mixed gonadal dysgenesis (chromosome pattern 45,XO/46,XY) before and after gonad excision after with arginine, GRH and TRH stimulation]. 61
6181988 1982
271
Multiple Y-chromosomal aberrations in a patient with mixed gonadal dysgenesis of XO/XY Type. 61
28035512 1981
272
Association between Wilms tumor and gonadal dysgenesis. 61
6110785 1981
273
[Asymmetric mixed gonadal dysgenesis (author's transl)]. 61
7243331 1981
274
H-Y antigen expression in a case of mixed gonadal dysgenesis. 61
6169618 1981
275
[Surgical treatment of hermaphroditism in children (evaluation of surgical diagnostic procedures and surgical methods based on 56 treated cases)]. 61
7349407 1981
276
Non-fluorescent Y-chromosome in mixed gonadal dysgenesis with 45,X/46,XY mosaicism. 61
6965844 1980
277
Cytological evidence for the location of male-determining and H-Y genes on the short arm of Y chromosome. 61
7190544 1980
278
[Case of asymmetrical or mixed gonadal dysgenesis (author's transl)]. 61
7192916 1980
279
[Mesomelic dwarfism Langer type associated to mixed gonadal dysgenesis, whit cariotipe 46,XY/45 X (author's transl)]. 61
533057 1979
280
[Unilateral dysgenetic testicular differentiation (mixed gonadal dysgenesis). Apropos of 9 cases in children]. 61
503701 1979
281
Mixed gonadal dysgenesis, pathogensis, and management. 61
480090 1979
282
Mixed gonadal dysgenesis. 61
430632 1979
283
The Sertoli cell in mixed gonadal dysgenesis. 61
570684 1979
284
[Pure gonadal dysgenesis. Case report with unusual anatomical and endocrine findings]. 61
574078 1979
285
[Mixed gonadal dysgenesis: clinical, cytogenetic, histological and endocrinological study of a prepubertal case with 45,X/46,XYq-chromosome pattern]. 61
233466 1979
286
Clinical mixed gonadal dysgenesis without Y chromosome. 61
566515 1978
287
Peritoneal mesothelioma in a male pseudohermaphrodite with asymmetrical gonadal differentiation. 61
645646 1978
288
Gonadal dysgenesis in a phenotypic female with an XY chromosomal constitution. 61
675413 1978
289
Dysgenetic male pseudohermaphroditism. 61
650759 1978
290
45,X/47,XYY mosaicism in a patient with Turner's syndrome. 61
640657 1978
291
[Mixed gonadal dysgenesis]. 61
565415 1978
292
Endocrine studies in male pseudohermaphroditism in childhood and adolescence. 61
147759 1978
293
[Mixed gonadal dysgenesis and gonadoblastoma of the testis in a patient with 45,X/47,XYY karyotype]. 61
565699 1978
294
[Mixed gonadal dysgenesis]. 61
401066 1977
295
45,X/46,X,dic(Yq) mosaicism and mixed gonadal dysgenesis. Case report and review of the literature. 61
305755 1977
296
[Mixed gonadal dysgenesis: A report of seven cases (author's transl)]. 61
604600 1977
297
Mixed gonadal dysgenesis without virilization. 61
904800 1977
298
The child with ambiguous genitalia: a neonatal surgical emergency. 61
889373 1977
299
X/XYq - mosaicism and mixed gonadal dysgenesis. 61
926138 1977
300
[Mixed gonadal dysgenesis]. 61
612846 1977
301
[Familial mixed gonadal dysgenesis (author's transl) (proceedings)]. 61
16557 1976
302
[Mixed gonadal dysgenesis with a neoplasm on one side]. 61
1015571 1976
303
[Mixed gonadal dysgenesis in children]. 61
997361 1976
304
[Phenotypic features and histomorphology of gonads in mixed gonadal dysgenesis in children]. 61
1278132 1976
305
Down's syndrome with X0/XY mosaicism. 61
5841 1976
306
[Gonocytoma III (gonadoblastoma) in a 12-year-old girl with mixed gonadal dysgenesis]. 61
1278133 1976
307
Mixed gonadal dysgenesis. Association with unilateral testis and XY chromosome complement. 61
946101 1976
308
Dicentric Y chromosome in mixed gonadal dysgenesis. 61
49429 1975
309
Mixed gonadal dysgenesis. 61
1094776 1975
310
Sex chromosome mosaicism of X/XY or X/XY/XYY. 61
1218222 1975
311
Mixed gonadal dysgenesis and other intersex states. 61
1156686 1975
312
Mixed gonadal dysgenesis. A case report. 61
4472202 1974
313
The early stage of a neoplastic growth in the testis of a patient with mixed gonadal dysgenesis--ultrastructural and histological observation. 61
4472693 1974
314
Mixed gonadal dysgenesis. 61
4147604 1973
315
Virilization superimposed on Turner's syndrome: cytogenetic studies of a gonadal tumor in a patient with XO-XY mixed gonadal dysgenesis. 61
4683730 1973
316
[Mixed gonadal dysgenesis with malignant tumor of the testis]. 61
4657510 1972
317
Gonadoblastoma associated with mixed gonadal dysgenesis. 61
4673966 1972
318
[Mixed gonadal dysgenesis in a 4-year-old boy]. 61
5069706 1972
319
[Mixed gonadal dysgenesis with 45,X-46,XYq--and coarctation of the aorta: report of a case]. 61
5169472 1971
320
Males with a uterus and fallopian tubes, a rare disorder of sexual development. 61
5173166 1971
321
Testicular dysgenesis syndromes. 61
5173158 1971
322
"Mixed" gonadal dysgenesis, a case with male phenotype and 45,X-46,XY mosaicism. 61
5535982 1970
323
Mixed gonadal dysgenesis with XO-XY mosaicism in multiple tissues. Report of a case. 61
5465438 1970
324
[Mixed gonadal dysgenesis: its place among dysgenetic syndromes and its relation to gonocytoma]. 61
4252070 1970
325
Mixed gonadal dysgenesis with Turner phenotype and XO-XYq- mosaicism. 61
5532253 1970
326
Gonadal histology in children with male pseudohermaphroditism and mixed gonadal dysgenesis. 61
4393569 1970
327
[Clinical, histological and cytogenetic studies in mixed gonadal dysgenesis]. 61
5439641 1970
328
[Clinical and biochemical studies in a female patient with mixed gonadal dysgenesis]. 61
4241299 1969
329
[Mixed gonadal dysgenesis]. 61
5402727 1969
330
[Mixed gonadal dysgenesis with an ovary]. 61
5343645 1969
331
[Karyotype and histologic changes in anomalous gonadal development in man. I. Mixed gonadal dysgenesis]. 61
5752740 1968
332
A possible correlation between chromosomal pattern and gonadal morphology in cases of mixed gonadal dysgenesis, XO-XX and XO-XY mosaicism, true hermaphrodites and XX males. 61
5649946 1968
333
[Mixed gonadal dysgenesis (or asymmetrical gonadal differentiation)]. 61
5638800 1968
334
Presumptive Y/D translocation in mixed gonadal dysgenesis. 61
6034520 1967
335
Dysgerminoma with atypical, mixed gonadal dysgenesis. A case report with chromosomal investigation of patient and tumour. 61
6018090 1967
336
Mixed gonadal dysgenesis. 61
6062919 1967
337
Mixed gonadal dysgenesis. Two additional pediatric cases. 61
5954024 1966
338
[Mixed gonadal dysgenesis with XY-XX-XXY karyotype]. 61
5954597 1966
339
[Mixed gonadal dysgenesis]. 61
5335595 1966
340
[Cytological changes in mixed gonadal dysgenesis with Leydig cell tumor in dysgenetic testicle]. 61
6010611 1966
341
[Mixed gonadal dysgenesis]. 61
5326268 1966
342
[CLINICAL ASPECTS, ENDOCRINOLOGY AND CYTOGENETIC STUDY OF PURE AND MIXED GONADAL DYSGENESIS]. 61
14341893 1965
343
MIXED GONADAL DYSGENESIS WITH XX-XY MOSAICISM. THE EVIDENCE FOR THE OCCURRENCE OF FERTILISATION BY TWO SPERMATOZOA IN MAN. 61
14289441 1965
344
"MIXED" GONADAL DYSGENESIS WITH GONADOBLASTOMA IN SITU. 61
14241519 1964
345
HERMAPHRODITISM WITH "ATYPICAL" OR "MIXED" GONADAL DYSGENESIS. RELATIONSHIP TO GONADAL NEOPLASM. 61
14124695 1964
346
"Mixed" gonadal dysgenesis: a variety of hermaphroditism. 61
13989874 1963

Variations for Mixed Gonadal Dysgenesis

Expression for Mixed Gonadal Dysgenesis

Search GEO for disease gene expression data for Mixed Gonadal Dysgenesis.

Pathways for Mixed Gonadal Dysgenesis

Pathways related to Mixed Gonadal Dysgenesis according to GeneCards Suite gene sharing:

(showing 3, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.63 SRD5A1 DHRS11 CYP21A2
2
Show member pathways
10.5 SRD5A1 CYP21A2
3 10 AMHR2 AMH

GO Terms for Mixed Gonadal Dysgenesis

Cellular components related to Mixed Gonadal Dysgenesis according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 nuclear transcription factor complex GO:0044798 8.62 SRY SOX9

Biological processes related to Mixed Gonadal Dysgenesis according to GeneCards Suite gene sharing:

(showing 15, show less)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.95 SRY SRD5A1 SOX9 NR5A1 FOXL2 DAZ4
2 regulation of transcription by RNA polymerase II GO:0006357 9.93 SOX9 NR5A1 KIT FOXL2 CGB5
3 positive regulation of gene expression GO:0010628 9.85 SRY SOX9 NR5A1 KIT AMH
4 steroid metabolic process GO:0008202 9.7 SRD5A1 DHRS11 CYP21A2
5 steroid biosynthetic process GO:0006694 9.65 SRD5A1 DHRS11 CYP21A2
6 cell fate specification GO:0001708 9.55 SOX9 DHH
7 male gonad development GO:0008584 9.55 SRD5A1 SOX9 NR5A1 KIT AMHR2
8 female gonad development GO:0008585 9.54 NR5A1 FOXL2 AMHR2
9 urogenital system development GO:0001655 9.51 SRD5A1 AMH
10 positive regulation of male gonad development GO:2000020 9.5 SRY SOX9 NR5A1
11 regulation of steroid biosynthetic process GO:0050810 9.49 NR5A1 DHH
12 Mullerian duct regression GO:0001880 9.43 AMHR2 AMH
13 sex determination GO:0007530 9.43 SRD5A1 NR5A1 AMH
14 sex differentiation GO:0007548 9.26 SRY SRD5A1 AMHR2 AMH
15 male sex determination GO:0030238 8.92 SRY SOX9 NR5A1 DHH

Sources for Mixed Gonadal Dysgenesis

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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