DSD
MCID: DSR090
MIFTS: 44

Disorder of Sexual Development (DSD)

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

Aliases & Classifications for Disorder of Sexual Development

MalaCards integrated aliases for Disorder of Sexual Development:

Name: Disorder of Sexual Development 12
Disorder of Sex Development 58 29 39
Disorders of Sexual Development 15
Disorders of Sex Development 44
Sex Differentiation Disease 12
Sex Development Disorder 12
Dsd 58

Classifications:

Orphanet: 58  
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:1923
MeSH 44 D012734
MESH via Orphanet 45 D012734
UMLS via Orphanet 72 C0036875
Orphanet 58 ORPHA90771
UMLS 71 C0036875

Summaries for Disorder of Sexual Development

Disease Ontology : 12 A gonadal disease that is characterized by atypical development of chromosomal, gonadal, or anatomic sex.

MalaCards based summary : Disorder of Sexual Development, also known as disorder of sex development, is related to hypogonadotropic hypogonadism 23 without anosmia and adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete. An important gene associated with Disorder of Sexual Development is DMRT1 (Doublesex And Mab-3 Related Transcription Factor 1), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Nuclear Receptor transcription pathway. The drugs Racepinephrine and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include uterus, testis and prostate, and related phenotypes are endocrine/exocrine gland and neoplasm

Wikipedia : 74 Disorders of sex development (DSDs), also known as differences in sex development, diverse sex... more...

Related Diseases for Disorder of Sexual Development

Diseases in the Disorder of Sexual Development family:

46, Xy Disorders of Sexual Development 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect

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

(show top 50) (show all 407)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 23 without anosmia 33.0 GNRH1 EPPIN
2 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 32.8 POMC NR0B1 CYP17A1 CYP11A1
3 46,xx sex reversal 32.7 NR5A1 NR0B1 DMRT1 AMH
4 46,xy sex reversal 2 32.6 NR5A1 NR0B1 CYP17A1 CYP11A1
5 gonadal dysgenesis 32.3 SHBG NR5A1 NR0B1 DMRT1 AMH
6 46,xy sex reversal 9 32.3 NR5A1 AR AMH
7 anorchia 32.3 RXFP2 NR5A1 INSL3
8 androgen insensitivity, partial 32.2 SHBG AR
9 gynecomastia 32.1 SRD5A2 SHBG PRL POMC GNRH1 AR
10 persistent mullerian duct syndrome 32.0 SRD5A2 RXFP2 NR5A1 NR0B1 INSL3 DMRT1
11 46,xy sex reversal 31.8 SRD5A2 POMC NR5A1 NR0B1 INS H2AC18
12 hypospadias 31.1 SRD5A2 RXFP2 NR5A1 INSL3 CYP17A1 CYP11A1
13 hermaphroditism 30.9 SRD5A2 SHBG NR0B1 DMRT1 AR AMH
14 penis agenesis 30.9 SRD5A2 GNRH1 CYP17A1 AR
15 gonadoblastoma 30.8 NR5A1 NR0B1 DMRT1 AMH
16 campomelic dysplasia 30.8 NR5A1 DMRT1 AMH
17 turner syndrome 30.7 SHOX SHBG NR0B1 INS AR AMH
18 hypogonadism 30.7 SHBG PRL NR0B1 INS GNRH1 AR
19 nonsyndromic disorders of testicular development 30.6 NR5A1 NR0B1 DMRT1
20 45,x/46,xy mixed gonadal dysgenesis 30.6 NR0B1 DMRT1 AMH
21 testicular torsion 30.6 RXFP2 INSL3 EPPIN
22 acute cystitis 30.6 INS H2AC18 EPRS1
23 precocious puberty, male-limited 30.6 POMC NR0B1 GNRH1
24 cytochrome p450 oxidoreductase deficiency 30.6 POMC CYP17A1
25 amenorrhea 30.5 SHBG PRL POMC NR5A1 INS GNRH1
26 psychosexual disorder 30.5 SHBG PRL
27 antley-bixler syndrome 30.5 POMC CYP17A1 CYP11A1
28 infertility 30.5 SHBG RXFP2 PRL NR5A1 INSL3 GNRH1
29 hypokalemia 30.5 POMC INS CYP17A1
30 46,xy partial gonadal dysgenesis 30.5 NR5A1 NR0B1
31 disease of mental health 30.4 SHBG PRL POMC INS H2AC18 GNRH1
32 luteoma 30.4 SHBG EPPIN
33 wilms tumor 1 30.4 NR5A1 NR0B1 H2AC18 EPPIN AR
34 testicular cancer 30.4 SHBG RXFP2 INSL3 GNRH1 DMRT1 AR
35 inguinal hernia 30.4 INSL3 AR AMH
36 leydig cell tumor 30.4 PRL NR5A1 INSL3 GNRH1 CYP17A1 CYP11A1
37 lipoid congenital adrenal hyperplasia 30.4 POMC NR5A1 NR0B1 GNRH1 CYP17A1 CYP11A1
38 teratoma 30.4 INS DMRT1 AMH
39 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 30.3 NR5A1 NR0B1 CYP11A1
40 oligospermia 30.3 SRD5A2 PRL GNRH1 EPPIN AR AMH
41 impotence 30.3 SHBG PRL POMC INS GNRH1 EPPIN
42 spermatogenic failure 50 30.3 NR5A1 H2AC18 EPPIN DMRT1
43 pseudohermaphroditism 30.3 SRD5A2 POMC NR5A1 NR0B1 INSL3 EPPIN
44 testicular disease 30.2 RXFP2 INSL3 H2AC18 GNRH1 EPPIN DMRT1
45 gender identity disorder 30.2 CYP17A1 AR
46 polycystic ovary syndrome 30.2 SHBG PRL INS GNRH1 CYP17A1 CYP11A1
47 hypogonadotropic hypogonadism 30.2 SHBG PRL NR5A1 NR0B1 INSL3 INS
48 sexual disorder 30.2 SHBG PRL POMC INS H2AC18 GNRH1
49 androgen insensitivity syndrome 30.1 SRD5A2 SHBG RXFP2 NR5A1 NR0B1 INSL3
50 kallmann syndrome 30.1 SRD5A2 SHOX SHBG PRL NR5A1 NR0B1

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



Diseases related to Disorder of Sexual Development

Symptoms & Phenotypes for Disorder of Sexual Development

MGI Mouse Phenotypes related to Disorder of Sexual Development:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.97 AMH AR CYP11A1 DMRT1 GNRH1 INS
2 neoplasm MP:0002006 9.5 AMH AR GNRH1 NR0B1 POMC PRL
3 reproductive system MP:0005389 9.44 AMH AR CYP11A1 CYP17A1 DMRT1 GNRH1

Drugs & Therapeutics for Disorder of Sexual Development

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

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Racepinephrine Approved Phase 1 329-65-7 838
2
Epinephrine Approved, Vet_approved Phase 1 51-43-4 5816
3
Hydrocortisone acetate Approved, Vet_approved Phase 1 50-03-3
4
Hydrocortisone Approved, Vet_approved Phase 1 50-23-7 5754
5 Epinephryl borate Phase 1
6 Hormones Phase 1
7 Anti-Inflammatory Agents Phase 1
8 Hormone Antagonists Phase 1
9 glucocorticoids Phase 1
10 Hydrocortisone hemisuccinate Phase 1
11 Hydrocortisone 17-butyrate 21-propionate Phase 1
12 Hydrocortisone-17-butyrate Phase 1
13 Psychotropic Drugs
14 Androgens

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Interval Bolus Delivery of Subcutaneous Hydrocortisone Via Infusion Pump in Children With Congenital Adrenal Hyperplasia Recruiting NCT03718234 Phase 1 Subcutaneous hydrocortisone;Standard glucocorticoid therapy
2 Mutation Analysis of 17α-Hydroxylase Unknown status NCT00172510
3 COPENHAGEN Minipuberty Study Unknown status NCT02784184
4 Mutation Analysis of 17βhydroxysteroid Dehydrogenase 3 Deficiency Unknown status NCT00173654
5 Decision Support for Parents Receiving Information About Child's Rare Disease Completed NCT01875640
6 Health-related Quality of Life, Mental Health and Psychotherapeutic Considerations for Women Diagnosed With a Disorder of Sexual Development: Congenital Adrenal Hyperplasia Completed NCT00559078
7 Identifying New Genetic Causes to the Disorders of Growth, Puberty and Sex Development Recruiting NCT03283852
8 Data Collection Study of Pediatric and Adolescent Gynecology Conditions Recruiting NCT04717349
9 Utilizing Whole Exome Sequencing and Genomics to Improve Our Understanding of Differences of Sex Development (DSD) and Hypospadias Recruiting NCT03102554
10 Using Anogenital Distance to Determinate Fetal Gender Beetween 18 et 41 Weeks of Gestation. Recruiting NCT03898440
11 Etude de Génétique moléculaire du Syndrome de Mayer-Rokitansky-Kuster-Hauser Recruiting NCT02967822
12 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
13 Uterus Transplantation From a Multi-organ Donor: A Prospective Trial Recruiting NCT03252795
14 GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age Recruiting NCT04463316
15 Evaluation of the Outcomes of Feminizing Genitoplasty in Children With Disorders of Sex Development Not yet recruiting NCT04195490
16 Investigation of Gene Polymorphisms Influencing Steroid Synthesis and Action in Patients With Deficient Steroid Biosynthesis and Disorders of Sex Development Withdrawn NCT00485186
17 Measurements of the Fetal Clitoris by 2D Ultrasound Withdrawn NCT01011400

Search NIH Clinical Center for Disorder of Sexual Development

Cochrane evidence based reviews: disorders of sex development

Genetic Tests for Disorder of Sexual Development

Genetic tests related to Disorder of Sexual Development:

# Genetic test Affiliating Genes
1 Disorder of Sex Development 29

Anatomical Context for Disorder of Sexual Development

MalaCards organs/tissues related to Disorder of Sexual Development:

40
Uterus, Testis, Prostate, Brain, Breast, Ovary, Testes

Publications for Disorder of Sexual Development

Articles related to Disorder of Sexual Development:

(show top 50) (show all 483)
# Title Authors PMID Year
1
Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis. 61
33526876 2021
2
A rare case of 46, XX (SRY positive) testicular disorder of sex development with growth hormone deficiency: Case report. 61
33578586 2021
3
Could Aberrant Migration Explain Metachronous Germ Cell Tumors? 61
33017201 2021
4
A Disorder of Sex Development in a Holstein-Friesian Heifer with a Rare Mosaicism (60,XX/90,XXY): A Genetic, Anatomical, and Histological Study. 61
33498673 2021
5
Identification of the first promoter-specific gain-of-function SOX9 missense variant (p.E50K) in a patient with 46,XX ovotesticular disorder of sex development. 61
33399274 2021
6
Spectrum of external genital anomalies in disorders of Sex Development at Children Hospital & Institute of Child Health, Lahore, Pakistan. 61
33437285 2021
7
A rare case of primary amenorrhoea and breast development in a 46,XY 15-year-old girl. 61
33599439 2021
8
Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG. 61
33394555 2021
9
Mental health outcomes among individuals with 46,XY disorders of sex development: A systematic review. 61
32133887 2021
10
17β-hydroxysteroid dehydrogenase type 3 deficiency: female sex assignment and follow-up. 61
32297288 2020
11
Novel mutations of the LHCGR gene in two families with 46,XY DSD causing Leydig cell hypoplasia I. 61
32666356 2020
12
Multiscale analysis of SRY-positive 46,XX testicular disorder of sex development: Presentation of nine cases. 61
32882067 2020
13
Klinefelter Syndrome Mosaicism 46,XX/47,XXY: A New Case and Literature Review. 61
32733741 2020
14
A novel approach in the intraoperative management of ovotesticular DSD. 61
33268315 2020
15
Male pseudohermaphroditism: A case study of 46,XY disorder of sexual development using whole-exome sequencing. 61
33363845 2020
16
[Exploration of the pathogenesis for a SRY-negative male with 46,XX disorder of sex development]. 61
33306833 2020
17
Male pseudohermaphrodite with persistent Mullerian duct: A radiologist's and patient's dilemma alike. 61
33368453 2020
18
Gonadoblastoma versus ovarian mixed germ cell-sex cord stromal tumor in women or girls with no evidence of a disorder of sex development: A problem in differential diagnosis. 61
33002849 2020
19
A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review. 61
32986312 2020
20
Androgens by immunoassay and mass spectrometry in children with 46,XY disorder of sex development. 61
33112837 2020
21
The FKBP4 Gene, Encoding a Regulator of the Androgen Receptor Signaling Pathway, Is a Novel Candidate Gene for Androgen Insensitivity Syndrome. 61
33182400 2020
22
Analysis of transcript and methylation levels of INSL3 and RXFP2 in undescended and descended dog testes suggested promising biomarkers associated with cryptorchidism. 61
32898823 2020
23
Altered expression of CYP17A1 and CYP19A1 in undescended testes of dogs with unilateral cryptorchidism. 61
32657440 2020
24
46, XX Ovotesticular disorder of sex development (true hermaphroditism) with seminoma: A case report. 61
33019456 2020
25
Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development. 61
33060765 2020
26
Individualized care for patients with intersex (disorders/differences of sex development): Part 3. 61
32605872 2020
27
Successful surgical sperm retrieval from a patient with 45,X/46,XY mosaicism followed by in vitro fertilization pregnancy: A case report. 61
33019396 2020
28
Isolated Clitoromegaly (Prader Stage 1 Genitalia) in Unilateral Variety of Ovotesticular Disorder of Sex Development. 61
33079340 2020
29
A Duplication Upstream of SOX9 Associated with SRY Negative 46,XX Ovotesticular Disorder of Sex Development: A Case Report 61
31476840 2020
30
Teratoma Associated With Testicular Tissue in a Female-Like Horse With 64,XY (SRY-Positive) Disorder of Sex Development. 61
32797799 2020
31
Laparoscopic gonadectomy in dogs with ovotesticular disorder of sexual development. 61
32599672 2020
32
Hormonal suppression of mini-puberty in a neonate with mosaic 45X/46XY disorder of sexual development. 61
32435594 2020
33
SRY-Positive 46, XX Testicular Disorder of Sexual Development With Leydig Cell Tumor. 61
33131361 2020
34
Proximal Hypospadias-Isolated Genital Condition or Marker of More? 61
32091304 2020
35
Gonadoblastoma in individuals with a normal karyotype and no evidence of a disorder of sex development. 61
32616344 2020
36
Prostatic Metaplasia of the Vagina and Uterine Cervix: An Androgen-associated Glandular Lesion of Surface Squamous Epithelium. 61
32282346 2020
37
Disorder of Sex Development: A Case of Late-Diagnosed Ovotestis and Its Postsurgical Follow-up. 61
32224245 2020
38
Barriers in access to healthcare services for individuals with disorders of sex differentiation in Bangladesh: an analysis of regional representative cross-sectional data. 61
32811451 2020
39
Rare Disorder of Sexual Differentiation with a Mosaic 46,XX/47,XXY in a Klinefelter Syndrome Individual. 61
32685420 2020
40
Application of droplet digital PCR in diagnosing of X monosomy in mares. 61
31793061 2020
41
A missense mutation in NR5A1 causing female to male sex reversal: A case report. 61
32271476 2020
42
46, XY disorder of sex development (DSD) complicated by a serous borderline tumor of the ovary: a case report and review of the literature. 61
32703224 2020
43
Gonadoblastoma: origin and outcome. 61
31805291 2020
44
A Rare Etiology of 46,XY Disorder of Sex Development and Adrenal Insufficiency: A Case of MIRAGE Syndrome Caused by Mutations in the SAMD9 Gene 61
31208161 2020
45
The lack of HSD17B3 in male mice results in disturbed Leydig cell maturation and endocrine imbalance akin to humans with HSD17B3 deficiency. 61
32190925 2020
46
Novel Deleterious Mutation in Steroid-5α-Reductase-2 in 46, XY Disorders of Sex Development: Case Report Study. 61
32449406 2020
47
Haematological chimerism masquerading as disorder of sex development. 61
31943282 2020
48
Demetylation of the sex-determining region Y gene promoter and incidence of disorder of sex development in cloned dog males. 61
32991314 2020
49
Disorder of sex development with germ cell tumors: Which is uncovered first? 61
32020769 2020
50
5α-Reductase type 2 deficiency in families from an isolated Andean population in Venezuela. 61
31613402 2020

Variations for Disorder of Sexual Development

Copy number variations for Disorder of Sexual Development from CNVD:

7 (show all 37)
# 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 Disorder of Sexual Development

Search GEO for disease gene expression data for Disorder of Sexual Development.

Pathways for Disorder of Sexual Development

GO Terms for Disorder of Sexual Development

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.7 SRD5A2 POMC INSL3 INS GNRH1 AR
2 steroid biosynthetic process GO:0006694 9.58 SRD5A2 CYP17A1 CYP11A1
3 sex differentiation GO:0007548 9.56 SRD5A2 DMRT1 CYP17A1 AMH
4 gonad development GO:0008406 9.51 NR0B1 AMH
5 sex determination GO:0007530 9.5 NR5A1 NR0B1 AMH
6 Leydig cell differentiation GO:0033327 9.49 NR0B1 AR
7 androgen biosynthetic process GO:0006702 9.48 SRD5A2 CYP17A1
8 positive regulation of male gonad development GO:2000020 9.46 NR5A1 DMRT1
9 glucocorticoid biosynthetic process GO:0006704 9.43 CYP17A1 CYP11A1
10 male gonad development GO:0008584 9.43 SRD5A2 RXFP2 NR5A1 NR0B1 DMRT1 AR
11 Sertoli cell differentiation GO:0060008 9.37 NR0B1 DMRT1
12 male sex determination GO:0030238 8.92 NR5A1 NR0B1 GNRH1 DMRT1

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.1 PRL POMC INSL3 INS GNRH1 AMH
2 androgen binding GO:0005497 8.96 SHBG AR

Sources for Disorder of Sexual Development

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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