MCID: PSD009
MIFTS: 44

Pseudohermaphroditism

Categories: Reproductive diseases, Endocrine diseases

Aliases & Classifications for Pseudohermaphroditism

MalaCards integrated aliases for Pseudohermaphroditism:

Name: Pseudohermaphroditism 12 76 55 6 15
Indeterminate Sex and Pseudohermaphroditism 12

Classifications:



External Ids:

Disease Ontology 12 DOID:3765
ICD10 33 Q56 Q56.3
ICD9CM 35 752.7
MeSH 44 D012734

Summaries for Pseudohermaphroditism

MalaCards based summary : Pseudohermaphroditism, also known as indeterminate sex and pseudohermaphroditism, is related to leydig cell hypoplasia and denys-drash syndrome. An important gene associated with Pseudohermaphroditism is LHCGR (Luteinizing Hormone/Choriogonadotropin Receptor), and among its related pathways/superpathways are Nuclear Receptor transcription pathway and Regulation of Androgen receptor activity. Affiliated tissues include testis, ovary and testes, and related phenotypes are Decreased caspase 3/7 activity and cellular

Wikipedia : 76 Pseudohermaphroditism, or pseudo-hermaphroditism, is an old clinical term for an organism that is born... more...

Related Diseases for Pseudohermaphroditism

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

(show top 50) (show all 126)
# Related Disease Score Top Affiliating Genes
1 leydig cell hypoplasia 33.7 HSD17B3 LHCGR
2 denys-drash syndrome 32.6 NR5A1 WT1
3 persistent mullerian duct syndrome, types i and ii 32.5 AMH AMHR2
4 androgen insensitivity, partial 32.3 AR CYP19A1
5 hermaphroditism 30.7 SRD5A2 SRY
6 lipoid congenital adrenal hyperplasia 30.1 CYP17A1 CYP19A1 HSD3B2 NR5A1 SRY
7 androgen insensitivity syndrome 30.0 AR NR5A1 SRD5A2 SRY
8 prostatic hyperplasia, benign 30.0 AR CYP19A1 SRD5A2
9 precocious puberty 30.0 CYP19A1 LHCGR
10 frasier syndrome 29.8 AMH NR5A1 SRY WT1
11 anorchia 29.5 NR5A1 SRY
12 adrenocortical carcinoma, hereditary 29.4 CYP17A1 CYP19A1 NR5A1
13 gonadoblastoma 29.4 SRY WT1
14 46,xx sex reversal 1 29.3 NR5A1 SRY
15 gynecomastia 29.3 AR CYP19A1 HSD17B3 SRY
16 ovarian disease 29.2 AMH CYP19A1 NR5A1
17 persistent mullerian duct syndrome 29.2 AMH AMHR2 NR5A1 SRY WT1
18 46,xy partial gonadal dysgenesis 29.1 NR5A1 SRY WT1
19 leydig cell tumor 29.1 CYP17A1 CYP19A1 LHCGR NR5A1
20 mixed gonadal dysgenesis 28.8 AMH AMHR2 SRY
21 gonadal dysgenesis 28.4 AMH NR5A1 SRY WT1
22 hypospadias 25.4 AR CYP17A1 HSD17B3 HSD3B2 LHCGR NR5A1
23 male pseudohermaphroditism/mental retardation syndrome, verloes type 12.1
24 pseudohermaphroditism, female, with skeletal anomalies 12.0
25 leydig cell hypoplasia, type i 12.0
26 pseudovaginal perineoscrotal hypospadias 12.0
27 aromatase deficiency 12.0
28 chondrodysplasia-pseudohermaphroditism syndrome 11.9
29 male pseudohermaphroditism intellectual disability syndrome, verloes type 11.9
30 male pseudohermaphroditism due to defective lh molecule 11.8
31 17-beta hydroxysteroid dehydrogenase iii deficiency 11.5
32 5-alpha reductase deficiency 11.4
33 46,xx disorder of sex development-anorectal anomalies syndrome 11.2
34 genitopalatocardiac syndrome 11.1
35 46,xy sex reversal 8 11.1
36 aromatase excess syndrome 10.8
37 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency 10.8
38 meacham syndrome 10.8
39 meacham winn culler syndrome 10.8
40 dysmorphism-short stature-deafness-disorder of sex development syndrome 10.8
41 testotoxicosis 10.7 CYP19A1 LHCGR
42 precocious puberty, male-limited 10.6 CYP19A1 LHCGR
43 gender identity disorder 10.6 AR CYP19A1
44 estrogen excess 10.6 CYP19A1 LHCGR
45 mammographic density 10.5 CYP17A1 CYP19A1
46 androgenic alopecia 10.4 AR CYP19A1
47 mycetoma 10.4 CYP17A1 CYP19A1
48 alopecia, androgenetic, 1 10.3 AR CYP19A1 SRD5A2
49 antley-bixler syndrome 10.3 CYP17A1 CYP19A1
50 transsexualism 10.3 AR CYP17A1 CYP19A1

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased caspase 3/7 activity GR00318-A 8.8 AR LHCGR NR3C1

MGI Mouse Phenotypes related to Pseudohermaphroditism:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.92 NR5A1 CYP17A1 WT1 CYP19A1 LHCGR AMHR2
2 cardiovascular system MP:0005385 9.91 AR NR5A1 WT1 CYP19A1 LHCGR AMHR2
3 endocrine/exocrine gland MP:0005379 9.91 NR5A1 SRD5A2 WT1 CYP19A1 LHCGR AMH
4 homeostasis/metabolism MP:0005376 9.81 NR5A1 CYP17A1 WT1 CYP19A1 AMH LHCGR
5 adipose tissue MP:0005375 9.8 CYP17A1 CYP19A1 LHCGR NR3C1 AR
6 renal/urinary system MP:0005367 9.5 CYP17A1 WT1 CYP19A1 LHCGR AMHR2 NR3C1
7 reproductive system MP:0005389 9.32 CYP17A1 SRD5A2 WT1 CYP19A1 LHCGR AMH

Drugs & Therapeutics for Pseudohermaphroditism

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Mutation Analysis of 17╬▓hydroxysteroid Dehydrogenase 3 Deficiency Unknown status NCT00173654
2 Mutation Analysis of 17╬▒-Hydroxylase Unknown status NCT00172510

Search NIH Clinical Center for Pseudohermaphroditism

Genetic Tests for Pseudohermaphroditism

Anatomical Context for Pseudohermaphroditism

MalaCards organs/tissues related to Pseudohermaphroditism:

41
Testis, Ovary, Testes, Skin, Kidney, Uterus, Bone

Publications for Pseudohermaphroditism

Articles related to Pseudohermaphroditism:

(show top 50) (show all 495)
# Title Authors Year
1
Characterization of anti-MA1llerian hormone in a case of bovine male pseudohermaphroditism. ( 29427350 )
2018
2
A rare case of male pseudohermaphroditism-persistent mullerian duct syndrome with transverse testicular ectopia - Case report and review of literature. ( 28645010 )
2017
3
Male Pseudohermaphroditism: Ambiguous genitalia. ( 27617556 )
2016
4
Effects of feminizing reconstructive surgery on sexual function and genital sensitivity in patients with female pseudohermaphroditism versus healthy control. ( 27172824 )
2016
5
Congenital adrenal hyperplasia and vanishing testis: rare case of male pseudohermaphroditism. ( 27294221 )
2016
6
Idiopathic female pseudohermaphroditism with urethral duplication and female hypospadias. ( 26965407 )
2016
7
Congenital Adrenal Hyperplasia due to 17-alpha-hydoxylase/17,20-lyase Deficiency Presenting with Hypertension and Pseudohermaphroditism: First Case Report from Oman. ( 24498484 )
2014
8
Female pseudohermaphroditism: strategy and bias in a fast diagnosis. How tricky could be a diagnosis with a wrong anamnesis. ( 25599724 )
2014
9
A unique case of female pseudohermaphroditism with 21-hydroxylase deficiency and small supernumerary marker chromosome 7. ( 23450434 )
2013
10
A rare adolescent case of female pseudohermaphroditism with adrenocortical carcinoma and synchronous teratoma. ( 23528907 )
2013
11
WT1 microdeletion and slowly progressing focal glomerulosclerosis in a patient with male pseudohermaphroditism, childhood leukemia, Wilms tumor and cerebellar angioblastoma. ( 23618379 )
2013
12
Female pseudohermaphroditism in a prenatally diagnosed cloacal malformation with hydronephrosis, dilated bladder, hydrometrocolpos, and oligohydramnios. ( 24411046 )
2013
13
Female pseudohermaphroditism associated with maternal steroid cell tumor, not otherwise specified of the ovary: a case report and literature review. ( 24597265 )
2013
14
Two cases of pseudohermaphroditism in loggerhead sea turtles Caretta caretta. ( 23999702 )
2013
15
Male pseudohermaphroditism presented with sudden cardiac arrest. ( 22477014 )
2012
16
Tetralogy of fallot associated with dysplastic kidneys, cloacal anomalies, and female pseudohermaphroditism: a systemic anomaly of septation? ( 22811944 )
2012
17
Two-step surgery for a unique case of idiopathic female pseudohermaphroditism. Surgical treatment in an exceptional combined uro-genital malformation. ( 23110911 )
2012
18
Male pseudohermaphroditism with mixed germ cell tumor. ( 21298767 )
2011
19
Clinical, genetic, and pathological features of male pseudohermaphroditism in dog. ( 21255434 )
2011
20
Male pseudohermaphroditism as a cause of secondary hypertension: a case report. ( 20960109 )
2010
21
Mutational analysis of androgen receptor gene in four Chinese patients with male pseudohermaphroditism. ( 20056211 )
2010
22
Staged reconstruction of the labia minora and reduction clitoroplasty for female pseudohermaphroditism. ( 20414773 )
2010
23
Persistent cloaca, fused kidneys, female pseudohermaphroditism and skeletal anomalies in a simmental calf. ( 19469769 )
2009
24
Activation of the Hedgehog pathway in the mouse fetal ovary leads to ectopic appearance of fetal Leydig cells and female pseudohermaphroditism. ( 19268447 )
2009
25
A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism. ( 19551906 )
2009
26
17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite. ( 17509588 )
2008
27
Mutations in a novel, cryptic exon of the luteinizing hormone/chorionic gonadotropin receptor gene cause male pseudohermaphroditism. ( 18433292 )
2008
28
Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism. ( 18314109 )
2008
29
Laparoscopy and intersex: report of 5 cases of male pseudohermaphroditism. ( 18319558 )
2008
30
Molecular diagnosis of 5alpha-reductase-2 gene mutation in two Indian families with male pseudohermaphroditism. ( 18097518 )
2008
31
Normal male chromosome complement and a lack of the SRY and SOX9 gene mutations in a male pseudohermaphrodite dog. ( 16737788 )
2007
32
Rare association of female pseudohermaphroditism, phallic urethra, and posterior cloaca. ( 16516639 )
2006
33
Male pseudohermaphroditism in a Labrador Retriever, and a review of mammalian sexual differentiation. ( 17028664 )
2006
34
Male pseudohermaphroditism and gonadal mosaicism in a 47,XY,+22 fetus. ( 16835917 )
2006
35
Complex urogenital malformation associated with female pseudohermaphroditism: caudal dysgenesis syndrome. ( 17128566 )
2006
36
A novel frameshift mutation in the 5alpha-reductase type 2 gene in Korean sisters with male pseudohermaphroditism. ( 16500352 )
2006
37
Long-term surgical results and patient satisfaction with male pseudohermaphroditism or true hermaphroditism: a cohort of 63 patients. ( 16600787 )
2006
38
XY male pseudohermaphroditism in a captive Arabian oryx (Oryx leucoryx). ( 17312771 )
2005
39
17alpha-hydroxylase/17,20-Lyase deficiency due to novel compound heterozygote mutations: treatment for tall stature in a female with male pseudohermaphroditism and spontaneous puberty in her affected sister. ( 15844475 )
2005
40
Idiopathic male pseudohermaphroditism is associated with prenatal growth retardation. ( 15711770 )
2005
41
Male pseudohermaphroditism. ( 19810311 )
2005
42
A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family. ( 16098368 )
2005
43
[Rare forms of female pseudohermaphroditism: when to investigate?]. ( 16544044 )
2005
44
Idiopathic male pseudohermaphroditism: variations in presentation and management. ( 16042324 )
2005
45
Enlarged clitoris in wild polar bears (Ursus maritimus) can be misdiagnosed as pseudohermaphroditism. ( 15626378 )
2005
46
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency and insulin resistance in a girl with Turner syndrome. ( 16052861 )
2005
47
A novel double mutation in the luteinizing hormone receptor in a kindred with familial Leydig cell hypoplasia and male pseudohermaphroditism. ( 16433250 )
2005
48
Male Pseudohermaphroditism in a raccoon dog (Nyctereutes procynoides). ( 15997188 )
2005
49
Male pseudohermaphroditism: long-term quality of life outcome in five 46,XY individuals reared female. ( 15270399 )
2004
50
Female pseudohermaphroditism with phallic urethra in the offspring of a mother with an adrenal tumor. ( 15570996 )
2004

Variations for Pseudohermaphroditism

ClinVar genetic disease variations for Pseudohermaphroditism:

6
(show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 HSD17B3 NM_000197.1(HSD17B3): c.239G> A (p.Arg80Gln) single nucleotide variant Pathogenic rs119481075 GRCh37 Chromosome 9, 99017188: 99017188
2 HSD17B3 NM_000197.1(HSD17B3): c.239G> A (p.Arg80Gln) single nucleotide variant Pathogenic rs119481075 GRCh38 Chromosome 9, 96254906: 96254906
3 HSD17B3 NM_000197.1(HSD17B3): c.608C> T (p.Ala203Val) single nucleotide variant Pathogenic rs119481076 GRCh37 Chromosome 9, 99006675: 99006675
4 HSD17B3 NM_000197.1(HSD17B3): c.608C> T (p.Ala203Val) single nucleotide variant Pathogenic rs119481076 GRCh38 Chromosome 9, 96244393: 96244393
5 HSD17B3 NM_000197.1(HSD17B3): c.238C> T (p.Arg80Trp) single nucleotide variant Likely pathogenic rs119481077 GRCh37 Chromosome 9, 99017189: 99017189
6 HSD17B3 NM_000197.1(HSD17B3): c.238C> T (p.Arg80Trp) single nucleotide variant Likely pathogenic rs119481077 GRCh38 Chromosome 9, 96254907: 96254907
7 HSD17B3 NM_000197.1(HSD17B3): c.277+4A> T single nucleotide variant Pathogenic rs201115371 GRCh37 Chromosome 9, 99017146: 99017146
8 HSD17B3 NM_000197.1(HSD17B3): c.277+4A> T single nucleotide variant Pathogenic rs201115371 GRCh38 Chromosome 9, 96254864: 96254864
9 HSD17B3 NM_000197.1(HSD17B3): c.845C> T (p.Pro282Leu) single nucleotide variant Pathogenic rs144809928 GRCh37 Chromosome 9, 98997830: 98997830
10 HSD17B3 NM_000197.1(HSD17B3): c.845C> T (p.Pro282Leu) single nucleotide variant Pathogenic rs144809928 GRCh38 Chromosome 9, 96235548: 96235548
11 LHCGR NM_000233.3(LHCGR): c.580T> G (p.Phe194Val) single nucleotide variant Pathogenic rs750481017 GRCh38 Chromosome 2, 48714011: 48714011
12 LHCGR NM_000233.3(LHCGR): c.580T> G (p.Phe194Val) single nucleotide variant Pathogenic rs750481017 GRCh37 Chromosome 2, 48941150: 48941150
13 HSD17B3 NM_000197.1(HSD17B3): c.614T> A (p.Val205Glu) single nucleotide variant Pathogenic rs372027264 GRCh37 Chromosome 9, 99006669: 99006669
14 HSD17B3 NM_000197.1(HSD17B3): c.614T> A (p.Val205Glu) single nucleotide variant Pathogenic rs372027264 GRCh38 Chromosome 9, 96244387: 96244387
15 HSD17B3 NM_000197.1(HSD17B3): c.578C> A (p.Pro193His) single nucleotide variant Likely pathogenic rs773720185 GRCh37 Chromosome 9, 99007655: 99007655
16 HSD17B3 NM_000197.1(HSD17B3): c.578C> A (p.Pro193His) single nucleotide variant Likely pathogenic rs773720185 GRCh38 Chromosome 9, 96245373: 96245373
17 HSD17B3 NM_000197.1(HSD17B3): c.454-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 9, 96249787: 96249787
18 HSD17B3 NM_000197.1(HSD17B3): c.454-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 9, 99012069: 99012069
19 HSD17B3 NM_000197.1(HSD17B3): c.414_416delTCT (p.Leu139del) deletion Likely pathogenic GRCh37 Chromosome 9, 99013737: 99013739
20 HSD17B3 NM_000197.1(HSD17B3): c.414_416delTCT (p.Leu139del) deletion Likely pathogenic GRCh38 Chromosome 9, 96251455: 96251457
21 HSD17B3 NM_000197.1(HSD17B3): c.397G> A (p.Gly133Arg) single nucleotide variant Pathogenic rs747724352 GRCh37 Chromosome 9, 99013756: 99013756
22 HSD17B3 NM_000197.1(HSD17B3): c.397G> A (p.Gly133Arg) single nucleotide variant Pathogenic rs747724352 GRCh38 Chromosome 9, 96251474: 96251474
23 HSD17B3 NM_000197.1(HSD17B3): c.383T> C (p.Leu128Ser) single nucleotide variant Likely pathogenic rs767765046 GRCh37 Chromosome 9, 99015087: 99015087
24 HSD17B3 NM_000197.1(HSD17B3): c.383T> C (p.Leu128Ser) single nucleotide variant Likely pathogenic rs767765046 GRCh38 Chromosome 9, 96252805: 96252805
25 HSD17B3 NM_000197.1(HSD17B3): c.278-1G> C single nucleotide variant Likely pathogenic rs149607031 GRCh37 Chromosome 9, 99015193: 99015193
26 HSD17B3 NM_000197.1(HSD17B3): c.278-1G> C single nucleotide variant Likely pathogenic rs149607031 GRCh38 Chromosome 9, 96252911: 96252911
27 HSD17B3 NM_000197.1(HSD17B3): c.121_122delAA (p.Lys41Valfs) deletion Pathogenic GRCh37 Chromosome 9, 99064265: 99064266
28 HSD17B3 NM_000197.1(HSD17B3): c.121_122delAA (p.Lys41Valfs) deletion Pathogenic GRCh38 Chromosome 9, 96301983: 96301984

Expression for Pseudohermaphroditism

Search GEO for disease gene expression data for Pseudohermaphroditism.

Pathways for Pseudohermaphroditism

GO Terms for Pseudohermaphroditism

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.35 CYP17A1 CYP19A1 HSD17B3 HSD3B2 SRD5A2
2 nuclear speck GO:0016607 8.92 AR NR3C1 SRY WT1

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.88 AMH AR NR5A1 SRD5A2
2 transcription initiation from RNA polymerase II promoter GO:0006367 9.81 AR NR3C1 NR5A1
3 steroid hormone mediated signaling pathway GO:0043401 9.69 AR NR3C1 NR5A1
4 female gonad development GO:0008585 9.67 AMHR2 CYP19A1 LHCGR NR5A1
5 steroid biosynthetic process GO:0006694 9.65 CYP17A1 CYP19A1 HSD17B3 HSD3B2 SRD5A2
6 tissue development GO:0009888 9.64 NR5A1 WT1
7 sterol metabolic process GO:0016125 9.63 CYP17A1 CYP19A1
8 positive regulation of male gonad development GO:2000020 9.63 NR5A1 SRY WT1
9 adrenal gland development GO:0030325 9.62 NR5A1 WT1
10 hormone metabolic process GO:0042445 9.62 HSD17B3 NR5A1
11 male genitalia development GO:0030539 9.62 HSD17B3 LHCGR SRD5A2 WT1
12 androgen metabolic process GO:0008209 9.61 CYP19A1 SRD5A2
13 uterus development GO:0060065 9.61 CYP19A1 LHCGR
14 sex determination GO:0007530 9.61 AMH NR5A1 WT1
15 cellular response to steroid hormone stimulus GO:0071383 9.59 AR NR3C1
16 gonad development GO:0008406 9.58 AMH WT1
17 testosterone biosynthetic process GO:0061370 9.58 CYP19A1 HSD17B3 SRD5A2
18 glucocorticoid biosynthetic process GO:0006704 9.57 CYP17A1 HSD3B2
19 progesterone metabolic process GO:0042448 9.56 CYP17A1 SRD5A2
20 cellular response to gonadotropin stimulus GO:0071371 9.55 LHCGR WT1
21 prostate gland growth GO:0060736 9.54 AR CYP19A1
22 female genitalia development GO:0030540 9.52 CYP19A1 SRD5A2
23 Mullerian duct regression GO:0001880 9.49 AMH AMHR2
24 negative regulation of female gonad development GO:2000195 9.48 NR5A1 WT1
25 androgen biosynthetic process GO:0006702 9.46 CYP17A1 HSD17B3 HSD3B2 SRD5A2
26 male gonad development GO:0008584 9.43 AMHR2 AR LHCGR NR5A1 SRD5A2 WT1
27 sex differentiation GO:0007548 9.1 AMH AMHR2 AR CYP17A1 SRD5A2 SRY
28 oxidation-reduction process GO:0055114 10 CYP17A1 CYP19A1 HSD17B3 HSD3B2 SRD5A2

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity GO:0003700 9.65 AR NR3C1 NR5A1 SRY WT1
2 oxidoreductase activity GO:0016491 9.35 CYP17A1 CYP19A1 HSD17B3 HSD3B2 SRD5A2
3 steroid binding GO:0005496 9.16 AR NR3C1
4 steroid hormone receptor activity GO:0003707 8.8 AR NR3C1 NR5A1

Sources for Pseudohermaphroditism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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