MCID: PSD009
MIFTS: 39

Pseudohermaphroditism

Categories: Reproductive diseases, Endocrine diseases

Aliases & Classifications for Pseudohermaphroditism

MalaCards integrated aliases for Pseudohermaphroditism:

Name: Pseudohermaphroditism 12 52 14
Indeterminate Sex and Pseudohermaphroditism 12

Classifications:



External Ids:

Disease Ontology 12 DOID:3765
ICD10 33 Q56 Q56.3
ICD9CM 35 752.7
MeSH 42 D012734

Summaries for Pseudohermaphroditism

MalaCards based summary : Pseudohermaphroditism, also known as indeterminate sex and pseudohermaphroditism, is related to meacham syndrome and hypogonadism. An important gene associated with Pseudohermaphroditism is SRD5A2 (Steroid 5 Alpha-Reductase 2), and among its related pathways/superpathways are Metabolism of steroid hormones and Androstenedione and testosterone biosynthesis and metabolism p.1. Affiliated tissues include testis, ovary and testes, and related phenotypes are endocrine/exocrine gland and adipose tissue

Wikipedia : 72 Pseudohermaphroditism, or pseudo-hermaphroditism, is a clinical term for the condition in which an... more...

Related Diseases for Pseudohermaphroditism

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

(show top 50) (show all 116)
id Related Disease Score Top Affiliating Genes
1 meacham syndrome 30.5 AMH WT1
2 hypogonadism 28.9 CYP19A1 WT1
3 leydig cell hypoplasia with pseudohermaphroditism 12.2
4 pseudohermaphroditism, male, with gynecomastia 12.0
5 male pseudohermaphroditism/mental retardation syndrome, verloes type 11.9
6 pseudohermaphroditism, female, with skeletal anomalies 11.9
7 pseudovaginal perineoscrotal hypospadias 11.8
8 aromatase deficiency 11.8
9 chondrodysplasia-pseudohermaphroditism syndrome 11.8
10 male pseudohermaphroditism due to defective lh molecule 11.7
11 male pseudohermaphroditism intellectual disability syndrome, verloes type 11.7
12 leydig cell hypoplasia 11.6
13 denys-drash syndrome 11.5
14 5-alpha reductase deficiency 11.3
15 lipoid adrenal hyperplasia 11.3
16 persistent mullerian duct syndrome, type ii 11.3
17 androgen insensitivity 11.1
18 persistent mullerian duct syndrome 11.1
19 46,xx disorder of sex development-anorectal anomalies syndrome 11.1
20 frasier syndrome 10.9
21 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency 10.7
22 aromatase excess syndrome 10.7
23 meacham winn culler syndrome 10.7
24 46xy sex reversal 8 10.7
25 dysmorphism-short stature-deafness-disorder of sex development syndrome 10.7
26 lichen sclerosus 10.5 HSD17B3 LHCGR
27 vaginal discharge 10.4 AR SRD5A2
28 hermaphroditism 10.3
29 gastric teratoma 10.3 AR LHCGR
30 clear cell acanthoma 10.2 CYP17A1 HSD3B2
31 tetraamelia with pulmonary hypoplasia 10.2 CYP19A1 LHCGR
32 precocious puberty, male 10.2 CYP19A1 LHCGR
33 acute thyroiditis 10.2 CYP19A1 LHCGR
34 congenital adrenal hyperplasia 10.2
35 osteopathia striata with cranial sclerosis 10.1 AR CYP19A1
36 osteogenesis imperfecta 10.1 AR CYP19A1
37 glioblastoma proneural subtype 10.1 AR CYP19A1
38 condrodisplasia punctata rizomélica 10.1 AR CYP19A1
39 presenile dementia, kraepelin type 10.1 CYP19A1 LHCGR
40 gynecomastia 10.1
41 perinatal jaundice due to hepatocellular damage 10.0 AMH CYP19A1
42 hypogonadotropic hypogonadism 23 with or without anosmia 10.0
43 esophagus sarcoma 10.0 AR CYP19A1
44 mycobacterium gordonae 10.0 CYP17A1 CYP19A1
45 weill-marchesani syndrome 10.0 CYP17A1 CYP19A1
46 gonadal dysgenesis 10.0
47 capillary lymphangioma 9.9 AMH AR
48 cryptorchidism 9.9
49 gonadoblastoma 9.9
50 inguinal hernia 9.9

Graphical network of the top 20 diseases related to Pseudohermaphroditism:



Diseases related to Pseudohermaphroditism

Symptoms & Phenotypes for Pseudohermaphroditism

MGI Mouse Phenotypes related to Pseudohermaphroditism:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.63 AMH AR CYP19A1 LHCGR SRD5A2 WT1
2 adipose tissue MP:0005375 9.43 AR CYP19A1 LHCGR
3 renal/urinary system MP:0005367 9.26 AR CYP19A1 LHCGR WT1
4 reproductive system MP:0005389 9.17 AMH AR CYP17A1 CYP19A1 LHCGR SRD5A2

Drugs & Therapeutics for Pseudohermaphroditism

Interventional clinical trials:


id 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:

39
Testis, Ovary, Testes, Skin, Kidney, Bone, Uterus

Publications for Pseudohermaphroditism

Articles related to Pseudohermaphroditism:

(show top 50) (show all 486)
id Title Authors Year
1
A rare case of male pseudohermaphroditism-persistent mullerian duct syndrome with transverse testicular ectopia - Case report and review of literature. ( 28645010 )
2017
2
Idiopathic female pseudohermaphroditism with urethral duplication and female hypospadias. ( 26965407 )
2016
3
Effects of feminizing reconstructive surgery on sexual function and genital sensitivity in patients with female pseudohermaphroditism versus healthy control. ( 27172824 )
2016
4
Congenital adrenal hyperplasia and vanishing testis: rare case of male pseudohermaphroditism. ( 27294221 )
2016
5
Male Pseudohermaphroditism: Ambiguous genitalia. ( 27617556 )
2016
6
Congenital Adrenal Hyperplasia due to 17-alpha-hydoxylase/17,20-lyase Deficiency Presenting with Hypertension and Pseudohermaphroditism: First Case Report from Oman. ( 24498484 )
2014
7
Female pseudohermaphroditism: strategy and bias in a fast diagnosis. How tricky could be a diagnosis with a wrong anamnesis. ( 25599724 )
2014
8
A rare adolescent case of female pseudohermaphroditism with adrenocortical carcinoma and synchronous teratoma. ( 23528907 )
2013
9
Female pseudohermaphroditism associated with maternal steroid cell tumor, not otherwise specified of the ovary: a case report and literature review. ( 24597265 )
2013
10
A unique case of female pseudohermaphroditism with 21-hydroxylase deficiency and small supernumerary marker chromosome 7. ( 23450434 )
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
Two cases of pseudohermaphroditism in loggerhead sea turtles Caretta caretta. ( 23999702 )
2013
14
Male pseudohermaphroditism presented with sudden cardiac arrest. ( 22477014 )
2012
15
Tetralogy of fallot associated with dysplastic kidneys, cloacal anomalies, and female pseudohermaphroditism: a systemic anomaly of septation? ( 22811944 )
2012
16
Two-step surgery for a unique case of idiopathic female pseudohermaphroditism. Surgical treatment in an exceptional combined uro-genital malformation. ( 23110911 )
2012
17
Clinical, genetic, and pathological features of male pseudohermaphroditism in dog. ( 21255434 )
2011
18
Male pseudohermaphroditism with mixed germ cell tumor. ( 21298767 )
2011
19
Male pseudohermaphroditism as a cause of secondary hypertension: a case report. ( 20960109 )
2010
20
Staged reconstruction of the labia minora and reduction clitoroplasty for female pseudohermaphroditism. ( 20414773 )
2010
21
Mutational analysis of androgen receptor gene in four Chinese patients with male pseudohermaphroditism. ( 20056211 )
2010
22
Persistent cloaca, fused kidneys, female pseudohermaphroditism and skeletal anomalies in a simmental calf. ( 19469769 )
2009
23
Activation of the Hedgehog pathway in the mouse fetal ovary leads to ectopic appearance of fetal Leydig cells and female pseudohermaphroditism. ( 19268447 )
2009
24
A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism. ( 19551906 )
2009
25
Mutations in a novel, cryptic exon of the luteinizing hormone/chorionic gonadotropin receptor gene cause male pseudohermaphroditism. ( 18433292 )
2008
26
Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism. ( 18314109 )
2008
27
Molecular diagnosis of 5alpha-reductase-2 gene mutation in two Indian families with male pseudohermaphroditism. ( 18097518 )
2008
28
Laparoscopy and intersex: report of 5 cases of male pseudohermaphroditism. ( 18319558 )
2008
29
17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite. ( 17509588 )
2008
30
A novel frameshift mutation in the 5alpha-reductase type 2 gene in Korean sisters with male pseudohermaphroditism. ( 16500352 )
2006
31
Complex urogenital malformation associated with female pseudohermaphroditism: caudal dysgenesis syndrome. ( 17128566 )
2006
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
Long-term surgical results and patient satisfaction with male pseudohermaphroditism or true hermaphroditism: a cohort of 63 patients. ( 16600787 )
2006
36
Idiopathic male pseudohermaphroditism is associated with prenatal growth retardation. ( 15711770 )
2005
37
XY male pseudohermaphroditism in a captive Arabian oryx (Oryx leucoryx). ( 17312771 )
2005
38
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
39
Male pseudohermaphroditism. ( 19810311 )
2005
40
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency and insulin resistance in a girl with Turner syndrome. ( 16052861 )
2005
41
Idiopathic male pseudohermaphroditism: variations in presentation and management. ( 16042324 )
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
A novel double mutation in the luteinizing hormone receptor in a kindred with familial Leydig cell hypoplasia and male pseudohermaphroditism. ( 16433250 )
2005
44
Enlarged clitoris in wild polar bears (Ursus maritimus) can be misdiagnosed as pseudohermaphroditism. ( 15626378 )
2005
45
Male Pseudohermaphroditism in a raccoon dog (Nyctereutes procynoides). ( 15997188 )
2005
46
What is your diagnosis? Male pseudohermaphroditism. ( 15460200 )
2004
47
Congenital adrenal hypoplasia and male pseudohermaphroditism due to DAX1 mutation, SF1 mutation or neither: a patient report. ( 15379426 )
2004
48
Linkage mapping of the locus responsible for male pseudohermaphroditism (mp) on rat chromosome 7. ( 15297712 )
2004
49
Persistent Mullerian duct syndrome causing male pseudohermaphroditism in a mixed-breed dog. ( 15499815 )
2004
50
Pseudohermaphroditism. ( 15136360 )
2004

Variations for Pseudohermaphroditism

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:

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.35 CYP17A1 CYP19A1 HSD17B3 HSD3B2 SRD5A2
2 endoplasmic reticulum membrane GO:0005789 9.02 CYP17A1 CYP19A1 HSD17B3 HSD3B2 SRD5A2

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

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.85 CYP17A1 CYP19A1 HSD17B3 HSD3B2 SRD5A2
2 cell-cell signaling GO:0007267 9.74 AMH AR SRD5A2
3 male gonad development GO:0008584 9.67 AR LHCGR SRD5A2 WT1
4 sterol metabolic process GO:0016125 9.56 CYP17A1 CYP19A1
5 sex differentiation GO:0007548 9.56 AMH AR CYP17A1 SRD5A2
6 androgen metabolic process GO:0008209 9.55 CYP19A1 SRD5A2
7 gonad development GO:0008406 9.54 AMH WT1
8 progesterone metabolic process GO:0042448 9.52 CYP17A1 SRD5A2
9 sex determination GO:0007530 9.51 AMH WT1
10 testosterone biosynthetic process GO:0061370 9.5 CYP19A1 HSD17B3 SRD5A2
11 cellular response to gonadotropin stimulus GO:0071371 9.49 LHCGR WT1
12 glucocorticoid biosynthetic process GO:0006704 9.48 CYP17A1 HSD3B2
13 male genitalia development GO:0030539 9.46 HSD17B3 LHCGR SRD5A2 WT1
14 prostate gland growth GO:0060736 9.43 AR CYP19A1
15 female genitalia development GO:0030540 9.4 CYP19A1 SRD5A2
16 steroid biosynthetic process GO:0006694 9.35 CYP17A1 CYP19A1 HSD17B3 HSD3B2 SRD5A2
17 androgen biosynthetic process GO:0006702 8.92 CYP17A1 HSD17B3 HSD3B2 SRD5A2

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

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.02 CYP17A1 CYP19A1 HSD17B3 HSD3B2 SRD5A2
2 oxygen binding GO:0019825 8.96 CYP17A1 CYP19A1

Sources for Pseudohermaphroditism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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
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42 MeSH
43 MESH via Orphanet
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48 NDF-RT
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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