MCID: PSD009
MIFTS: 45

Pseudohermaphroditism

Categories: Endocrine diseases, Reproductive diseases
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Aliases & Classifications for Pseudohermaphroditism

MalaCards integrated aliases for Pseudohermaphroditism:

Name: Pseudohermaphroditism 11 75 53 5 14 16
Indeterminate Sex and Pseudohermaphroditism 11 31

Classifications:



External Ids:

Disease Ontology 11 DOID:3765
ICD9CM 34 752.7
MeSH 43 D012734
NCIt 49 C124575
SNOMED-CT 68 204895009 268328009
ICD10 31 Q56 Q56.3
UMLS 71 C0021193 C0033804

Summaries for Pseudohermaphroditism

MalaCards based summary: Pseudohermaphroditism, also known as indeterminate sex and pseudohermaphroditism, is related to leydig cell hypoplasia, type i and 17-beta hydroxysteroid dehydrogenase iii deficiency. An important gene associated with Pseudohermaphroditism is HSD17B3 (Hydroxysteroid 17-Beta Dehydrogenase 3), and among its related pathways/superpathways are Metabolism and Metabolism of steroids. Affiliated tissues include testis, ovary and adrenal cortex, and related phenotypes are Decreased caspase 3/7 activity and growth/size/body region

Wikipedia: 75 Pseudohermaphroditism is a condition in which an individual has a matching chromosomal and gonadal... more...

Related Diseases for Pseudohermaphroditism

Diseases related to Pseudohermaphroditism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 288)
# Related Disease Score Top Affiliating Genes
1 leydig cell hypoplasia, type i 32.8 STON1-GTF2A1L LHCGR
2 17-beta hydroxysteroid dehydrogenase iii deficiency 32.7 SRD5A2 NR5A1 HSD17B3 AR AMH
3 denys-drash syndrome 32.6 WT1 SRD5A1 NR5A1
4 persistent mullerian duct syndrome, types i and ii 32.5 AMHR2 AMH
5 syndrome with 46,xy disorder of sex development 32.3 SRY NR5A1
6 leydig cell hypoplasia 32.2 STAR SRD5A2 NR5A1 LHCGR INSL3 HSD17B3
7 frasier syndrome 32.1 WT1 SRY NR5A1
8 aromatase excess syndrome 31.9 EPPIN CYP19A1 CYP17A1 AR
9 persistent mullerian duct syndrome 31.7 WT1 SRD5A2 NR5A1 LHCGR INSL3 HSD17B3
10 androgen insensitivity, partial 31.6 SRD5A2 SRD5A1 NR5A1 INSL3 HSD17B3 EPPIN
11 lipoid congenital adrenal hyperplasia 31.6 STAR SRY SRD5A2 SRD5A1 NR5A1 LHCGR
12 androgen insensitivity syndrome 31.6 SRY SRD5A2 SRD5A1 NR5A1 INSL3 HSD17B3
13 hermaphroditism 31.2 NR5A1 CYP19A1 AMHR2 AMH
14 turner syndrome 31.1 SRY CYP21A2 AR AMH
15 amenorrhea 31.1 NR5A1 LHCGR LHB CYP19A1 CYP17A1
16 46,xx sex reversal 1 31.0 SRY SRD5A1 NR5A1
17 gonadal dysgenesis 31.0 WT1 SRY NR5A1 AMHR2 AMH
18 gynecomastia 31.0 SRY SRD5A2 SRD5A1 HSD17B3 CYP19A1 AR
19 hypogonadotropic hypogonadism 23 with or without anosmia 30.9 LHB EPPIN
20 leydig cell hypoplasia type ii 30.9 STON1-GTF2A1L LHCGR LHB
21 hypogonadism 30.8 LHCGR LHB CYP19A1 AR
22 precocious puberty 30.8 LHCGR CYP21A2
23 gonadoblastoma 30.8 WT1 SRY NR5A1 AMH
24 hypospadias 30.7 WT1 SRY SRD5A2 SRD5A1 NR5A1 LHCGR
25 penis agenesis 30.7 SRD5A2 SRD5A1 LHCGR CYP17A1 AR
26 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 30.6 STAR NR5A1 HSD3B2 HSD17B3 CYP21A2 CYP17A1
27 smith-lemli-opitz syndrome 30.6 STAR CYP19A1 CYP17A1
28 conn's syndrome 30.5 STAR NR5A1 LHCGR HSD3B2 CYP21A2 CYP17A1
29 46,xy partial gonadal dysgenesis 30.5 WT1 SRY NR5A1
30 testicular cancer 30.5 INSL3 EPPIN AR AMH
31 mixed gonadal dysgenesis 30.5 SRY SRD5A1 NR5A1 HSD17B3 CYP21A2 AMHR2
32 hypoadrenocorticism, familial 30.5 STAR NR5A1 HSD3B2 CYP21A2 CYP17A1
33 adrenal adenoma 30.4 EPPIN CYP21A2 CYP17A1
34 inguinal hernia 30.4 WT1 SRD5A2 NR5A1 INSL3 HSD17B3 AR
35 luteoma 30.4 STAR EPPIN CYP21A2 CYP19A1 AMHR2 AMH
36 acne 30.3 SRD5A1 CYP21A2 CYP19A1 CYP17A1 AR
37 adrenal hypoplasia, congenital 30.3 STAR NR5A1 HSD3B2 EPPIN CYP21A2
38 adrenal cortical adenoma 30.3 NR5A1 CYP21A2 CYP17A1
39 precocious puberty, male-limited 30.2 STON1-GTF2A1L LHCGR CYP21A2 CYP19A1 AMH
40 hypogonadism, male 30.2 LHCGR LHB
41 gender incongruence 30.2 SRD5A2 CYP21A2 CYP19A1 CYP17A1 AR AMH
42 freemartinism 30.2 HSD17B3 AMH
43 cryptorchidism, unilateral or bilateral 30.1 WT1 STAR SRD5A2 SRD5A1 NR5A1 LHCGR
44 cloacal exstrophy 30.1 SRD5A2 NR5A1 CYP21A2
45 cytochrome p450 oxidoreductase deficiency 30.1 HSD3B2 CYP21A2 CYP19A1 CYP17A1
46 alopecia 30.1 SRD5A2 SRD5A1 CYP19A1 AR
47 hyperandrogenism 30.1 SRD5A1 INSL3 HSD3B2 CYP21A2 CYP19A1 CYP17A1
48 corticosterone methyloxidase type i deficiency 30.1 STAR NR5A1 HSD3B2 CYP21A2
49 alopecia, androgenetic, 1 30.0 SRD5A2 SRD5A1 CYP21A2 CYP19A1 AR
50 estrogen excess 30.0 CYP19A1 AMH

Graphical network of the top 20 diseases related to Pseudohermaphroditism:



Diseases related to Pseudohermaphroditism

Symptoms & Phenotypes for Pseudohermaphroditism

GenomeRNAi Phenotypes related to Pseudohermaphroditism according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased caspase 3/7 activity GR00318-A 8.8 AR LHB LHCGR

MGI Mouse Phenotypes related to Pseudohermaphroditism:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10 AMH AMHR2 AR CYP17A1 CYP19A1 CYP21A2
2 endocrine/exocrine gland MP:0005379 9.83 AMH AMHR2 AR CYP19A1 EPPIN HSD17B3
3 reproductive system MP:0005389 9.53 AMH AMHR2 AR CYP17A1 CYP19A1 EPPIN

Drugs & Therapeutics for Pseudohermaphroditism

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Mutation Analysis of 17βhydroxysteroid Dehydrogenase 3 Deficiency Unknown status NCT00173654
2 Mutation Analysis of 17α-Hydroxylase Unknown status NCT00172510

Search NIH Clinical Center for Pseudohermaphroditism

Genetic Tests for Pseudohermaphroditism

Anatomical Context for Pseudohermaphroditism

Organs/tissues related to Pseudohermaphroditism:

MalaCards : Testis, Ovary, Adrenal Cortex, Testes, Adrenal Gland, Uterus, Cortex

Publications for Pseudohermaphroditism

Articles related to Pseudohermaphroditism:

(show top 50) (show all 1443)
# Title Authors PMID Year
1
Molecular diagnosis of 5alpha-reductase-2 gene mutation in two Indian families with male pseudohermaphroditism. 53 62
18097518 2008
2
Nephropathy and defective spermatogenesis in mice transgenic for a single isoform of the Wilms' tumour suppressor protein, WT1-KTS, together with one disrupted Wt1 allele. 53 62
16967512 2007
3
Phenotype-genotype correlation in eight Chinese 17alpha-hydroxylase/17,20 lyase-deficiency patients with five novel mutations of CYP17A1 gene. 53 62
16772352 2006
4
A novel mutation of WT1 exon 9 in a patient with Denys-Drash syndrome and pyloric stenosis. 53 62
15349765 2004
5
[Aromatase deficiency]. 53 62
14968547 2004
6
Prophylactic bilateral nephrectomies in two paediatric patients with missense mutations in the WT1 gene. 53 62
14671061 2004
7
Transcriptional activity of testis-determining factor SRY is modulated by the Wilms' tumor 1 gene product, WT1. 53 62
12970737 2003
8
Normal prenatal but arrested postnatal sexual development of luteinizing hormone receptor knockout (LuRKO) mice. 53 62
11145748 2001
9
A Japanese case with Frasier syndrome caused by the splice junction mutation of WT1 gene. 53 62
10670748 1999
10
Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases. 53 62
10505700 1999
11
Bilateral Wilms tumor in a boy with severe hypospadias and cryptochidism due to a heterozygous mutation in the WT1 gene. 53 62
10022588 1999
12
Female pseudohermaphroditism associated with a novel homozygous G-to-A (V370-to-M) substitution in the P-450 aromatase gene. 53 62
9829218 1998
13
Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database. 53 62
9529364 1998
14
Phenotypic classification of male pseudohermaphroditism due to steroid 5 alpha-reductase 2 deficiency. 53 62
8723114 1996
15
Mutation in 3 beta-hydroxysteroid dehydrogenase type II associated with pseudohermaphroditism in males and premature pubarche or cryptic expression in females. 53 62
8185809 1994
16
The ecotoxicology of marine tributyltin (TBT) hotspots: A review. 62
35777303 2022
17
Clinical and diagnostic approach of male pseudo hermaphroditism with os-clitoris in French bulldog: A case report. 62
35156328 2022
18
Persistent Mullerian duct syndrome (PMDS): Case report and review of literature. 62
35530558 2022
19
Cytochrome P450 family 17 subfamily A member 1 mutation causes severe pseudohermaphroditism: A case report. 62
35611191 2022
20
Female pseudohermaphroditism with urethral duplication: A delayed presentation in adulthood. 62
35400864 2022
21
An Unusual Case of Type A Posterior Cloaca Associated with 46XX Disorder of Sexual Differentiation with Y Duplication of Urethra. 62
35937130 2022
22
Persistent Mullerian Duct Syndrome: A Rare Case of an Adult Infertile Male with Bilateral Cryptorchidism. 62
34900642 2021
23
The clinical applications of five-alpha reductase inhibitors. 62
33872554 2021
24
Focal Segmental Membranoproliferative Glomerulonephritis: A Histological Variant of Denys-Drash Syndrome. 62
31707902 2021
25
Male pseudohermaphrodite with persistent Mullerian duct: A radiologist's and patient's dilemma alike. 62
33368453 2021
26
Unusual Penile Prolapse with an Infectious Background Caused by the Burkholderia cepacia Complex in a Stallion. 62
33478767 2021
27
Transverse testicular ectopia associated with persistent Mullerian duct syndrome in infertile male: two case reports and literature review. 62
33532339 2021
28
Male pseudohermaphroditism: A case study of 46,XY disorder of sexual development using whole-exome sequencing. 62
33363845 2020
29
Persistant Mullerian duct syndrome with intra-abdominal seminoma. 62
33102043 2020
30
[Microsurgical penile reconstruction in case of intersexuality and after penis carcinoma]. 62
32428939 2020
31
Persistent Mullerian duct syndrome: rare presentation in an elderly man. 62
32675118 2020
32
Female form of persistent Müllerian duct syndrome: A rare case report and review of literature. 62
33190105 2020
33
Hypofertility in a persistence of mullerian duct syndrome: Case report. 62
33395894 2020
34
A Case of Adenocarcinoma of Uterus Masculinus in a Pomeranian Dog. 62
32613012 2020
35
[Leydig cell hyperplasia of testis in children: a clinicopathological study]. 62
31775433 2019
36
Male pseudohermaphroditism with os clitoris in three dogs. 62
31775186 2019
37
Persistent Mullerian duct syndrome with transverse testicular ectopia: A case report. 62
31080737 2019
38
A unique case of aggressive uterine cancer in a 45-year-old man with persistent Müllerian duct syndrome. 62
31070141 2019
39
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population. 62
31636948 2019
40
Two novel heterozygous mutations in the CYP17A1 gene in a Chinese patient with 17α-hydroxylase 17,20-lyase deficiency. 62
30695673 2018
41
Persistent Mullerian duct syndrome: Report of two cases with phenotypical immunohistochemical profiling. 62
30426882 2018
42
Transverse testicular ectopia associated with persistent Müllerian duct syndrome treated by transseptal orchiopexy: A case report. 62
30508918 2018
43
Persistent Mullerian Duct Syndrome: A Single-Center Experience. 62
30443115 2018
44
Developmental asynchrony and antagonism of sex determination pathways in a lizard with temperature-induced sex reversal. 62
30291276 2018
45
Persistent Mullerian Duct Syndrome with Testicular Seminoma in Transverse Testicular Ectopia. 62
30568363 2018
46
Genetic defect of a combined 17 α-hydroxylase/17,20-lyase deficiency patient with adrenal crisis. 62
29345162 2018
47
Characterization of anti-Müllerian hormone in a case of bovine male pseudohermaphroditism. 62
29427350 2018
48
Transverse testicular ectopia with persistent mullerian duct syndrome. 62
29669771 2018
49
Surveyor assay to diagnose persistent Müllerian duct syndrome in Miniature Schnauzers. 62
27515263 2017
50
Persistent Müllerian duct syndrome: A case report and review. 62
29285121 2017

Variations for Pseudohermaphroditism

ClinVar genetic disease variations for Pseudohermaphroditism:

5 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HSD17B3 NM_000197.2(HSD17B3):c.614T>A (p.Val205Glu) SNV Pathogenic
492767 rs372027264 GRCh37: 9:99006669-99006669
GRCh38: 9:96244387-96244387
2 HSD17B3 NM_000197.2(HSD17B3):c.277+4A>T SNV Pathogenic
208587 rs201115371 GRCh37: 9:99017146-99017146
GRCh38: 9:96254864-96254864
3 HSD17B3 NM_000197.2(HSD17B3):c.278-1G>C SNV Pathogenic
492761 rs149607031 GRCh37: 9:99015193-99015193
GRCh38: 9:96252911-96252911
4 HSD17B3 NM_000197.2(HSD17B3):c.239G>A (p.Arg80Gln) SNV Pathogenic
4874 rs119481075 GRCh37: 9:99017188-99017188
GRCh38: 9:96254906-96254906
5 HSD17B3 NM_000197.2(HSD17B3):c.608C>T (p.Ala203Val) SNV Pathogenic
4875 rs119481076 GRCh37: 9:99006675-99006675
GRCh38: 9:96244393-96244393
6 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.580T>G (p.Phe194Val) SNV Pathogenic
492758 rs750481017 GRCh37: 2:48941150-48941150
GRCh38: 2:48714011-48714011
7 HSD17B3 NM_000197.2(HSD17B3):c.845C>T (p.Pro282Leu) SNV Pathogenic
265484 rs144809928 GRCh37: 9:98997830-98997830
GRCh38: 9:96235548-96235548
8 HSD17B3 NM_000197.2(HSD17B3):c.397G>A (p.Gly133Arg) SNV Pathogenic
492763 rs747724352 GRCh37: 9:99013756-99013756
GRCh38: 9:96251474-96251474
9 HSD17B3 NM_000197.2(HSD17B3):c.121_122del (p.Lys41fs) DEL Pathogenic
492760 rs1554705693 GRCh37: 9:99064265-99064266
GRCh38: 9:96301983-96301984
10 HSD17B3-AS1, HSD17B3 NM_000197.2(HSD17B3):c.454-1G>A SNV Pathogenic
492765 rs1554694264 GRCh37: 9:99012069-99012069
GRCh38: 9:96249787-96249787
11 HSD17B3 NM_000197.2(HSD17B3):c.238C>T (p.Arg80Trp) SNV Pathogenic
4877 rs119481077 GRCh37: 9:99017189-99017189
GRCh38: 9:96254907-96254907
12 HSD17B3 NM_000197.2(HSD17B3):c.414_416del (p.Leu139del) DEL Likely Pathogenic
492764 rs1554694678 GRCh37: 9:99013737-99013739
GRCh38: 9:96251455-96251457
13 HSD17B3 NM_000197.2(HSD17B3):c.578C>A (p.Pro193His) SNV Likely Pathogenic
492766 rs773720185 GRCh37: 9:99007655-99007655
GRCh38: 9:96245373-96245373
14 HSD17B3 NM_000197.2(HSD17B3):c.383T>C (p.Leu128Ser) SNV Likely Pathogenic
492762 rs767765046 GRCh37: 9:99015087-99015087
GRCh38: 9:96252805-96252805

Expression for Pseudohermaphroditism

Search GEO for disease gene expression data for Pseudohermaphroditism.

Pathways for Pseudohermaphroditism



Pathways directly related to Pseudohermaphroditism:

# Pathway Source
1 Defective CYP19A1 causes AEXS Reactome 66

Pathways related to Pseudohermaphroditism according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.6 STAR SRD5A2 SRD5A1 LHB HSD3B2 HSD17B3
2
Show member pathways
12.47 CYP17A1 CYP19A1 CYP21A2 HSD17B3 HSD3B2 LHB
3
Show member pathways
12.36 STAR NR5A1 LHCGR LHB
4 11.61 STAR HSD3B2 CYP21A2
5
Show member pathways
11.36 HSD3B2 HSD17B3 CYP19A1 CYP17A1
6
Show member pathways
11.26 STAR SRD5A2 SRD5A1 LHB HSD3B2 HSD17B3
7
Show member pathways
11.19 WT1 SRY SRD5A1 NR5A1 INSL3 AMHR2
8 11.14 NR5A1 LHCGR CYP19A1
9 11.08 CYP21A2 CYP19A1 CYP17A1
10 10.6 STAR SRD5A2 HSD3B2 HSD17B3 CYP17A1
11 10.54 LHCGR LHB
12 10.39 AMHR2 AMH

GO Terms for Pseudohermaphroditism

Cellular components related to Pseudohermaphroditism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell body fiber GO:0070852 8.92 SRD5A2 SRD5A1

Biological processes related to Pseudohermaphroditism according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 10.27 SRD5A2 LHB INSL3 AR AMH
2 hippocampus development GO:0021766 10.11 SRD5A2 SRD5A1 HSD3B2
3 hormone-mediated signaling pathway GO:0009755 10.08 NR5A1 LHCGR LHB
4 lipid metabolic process GO:0006629 10.08 CYP17A1 CYP19A1 CYP21A2 HSD17B3 HSD3B2 SRD5A1
5 steroid metabolic process GO:0008202 10.02 SRD5A2 SRD5A1 CYP21A2 CYP17A1
6 male genitalia development GO:0030539 10.02 WT1 SRD5A2 SRD5A1 LHCGR HSD17B3
7 Leydig cell differentiation GO:0033327 9.99 NR5A1 AR AMH
8 sex determination GO:0007530 9.97 AMH NR5A1 SRD5A1 WT1
9 androgen biosynthetic process GO:0006702 9.96 CYP17A1 HSD17B3 HSD3B2 SRD5A1 SRD5A2
10 positive regulation of male gonad development GO:2000020 9.95 NR5A1 SRY WT1
11 female gonad development GO:0008585 9.95 NR5A1 LHCGR CYP19A1 AMHR2
12 hypothalamus development GO:0021854 9.94 SRD5A2 SRD5A1
13 male sex determination GO:0030238 9.93 SRY NR5A1
14 cellular response to testosterone stimulus GO:0071394 9.93 SRD5A1 AR
15 female genitalia development GO:0030540 9.93 SRD5A2 SRD5A1 CYP19A1
16 progesterone metabolic process GO:0042448 9.92 SRD5A1 CYP17A1
17 prostate gland growth GO:0060736 9.92 AR CYP19A1
18 cellular response to gonadotropin stimulus GO:0071371 9.91 WT1 LHCGR
19 testosterone biosynthetic process GO:0061370 9.91 SRD5A2 HSD17B3 CYP19A1
20 male gonad development GO:0008584 9.91 AMHR2 AR INSL3 LHB LHCGR NR5A1
21 response to follicle-stimulating hormone GO:0032354 9.9 SRD5A2 SRD5A1
22 glucocorticoid biosynthetic process GO:0006704 9.89 CYP21A2 CYP17A1
23 regulation of steroid biosynthetic process GO:0050810 9.89 STAR NR5A1 LHCGR
24 androgen catabolic process GO:0006710 9.88 SRD5A1 CYP19A1
25 Mullerian duct regression GO:0001880 9.88 AMH AMHR2
26 negative regulation of female gonad development GO:2000195 9.86 WT1 NR5A1
27 sex differentiation GO:0007548 9.85 SRY SRD5A2 SRD5A1 CYP17A1 AMHR2 AMH
28 androgen metabolic process GO:0008209 9.83 SRD5A2 SRD5A1 CYP19A1
29 steroid biosynthetic process GO:0006694 9.53 STAR SRD5A2 SRD5A1 HSD3B2 HSD17B3 CYP21A2

Molecular functions related to Pseudohermaphroditism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 testosterone dehydrogenase [NAD(P)] activity GO:0030283 9.62 SRD5A2 HSD17B3
2 monooxygenase activity GO:0004497 9.58 CYP21A2 CYP19A1 CYP17A1
3 cholestenone 5-alpha-reductase activity GO:0047751 9.56 SRD5A2 SRD5A1
4 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.54 CYP21A2 CYP19A1 CYP17A1
5 3-oxo-5-alpha-steroid 4-dehydrogenase activity GO:0003865 9.46 SRD5A2 SRD5A1
6 oxidoreductase activity GO:0016491 9.32 SRD5A2 SRD5A1 HSD3B2 HSD17B3 CYP21A2 CYP19A1
7 amide binding GO:0033218 9.26 SRD5A2 SRD5A1

Sources for Pseudohermaphroditism

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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