MCID: PSD009
MIFTS: 40

Pseudohermaphroditism malady

Categories: Reproductive diseases, Endocrine diseases

Aliases & Classifications for Pseudohermaphroditism

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Aliases & Descriptions for Pseudohermaphroditism:

Name: Pseudohermaphroditism 11 50 13
 
Indeterminate Sex and Pseudohermaphroditism 11

Classifications:



External Ids:

Disease Ontology11 DOID:3765
ICD1030 Q56, Q56.3
ICD9CM32 752.7
MeSH39 D012734

Summaries for Pseudohermaphroditism

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Wikipedia:71 Pseudohermaphroditism, or pseudo-hermaphroditism, is an old clinical term for the condition in which an... more...

MalaCards based summary: Pseudohermaphroditism, also known as indeterminate sex and pseudohermaphroditism, is related to leydig cell hypoplasia with pseudohermaphroditism and male pseudohermaphroditism/mental retardation syndrome, verloes type. An important gene associated with Pseudohermaphroditism is CYP17A1 (Cytochrome P450 Family 17 Subfamily A Member 1), and among its related pathways are Ovarian Infertility Genes and superpathway of steroid hormone biosynthesis. Affiliated tissues include testis, ovary and testes, and related mouse phenotypes are renal/urinary system and endocrine/exocrine gland.

Related Diseases for Pseudohermaphroditism

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

(show top 50)    (show all 119)
idRelated DiseaseScoreTop Affiliating Genes
1leydig cell hypoplasia with pseudohermaphroditism33.5CYP19A1, LHCGR
2male pseudohermaphroditism/mental retardation syndrome, verloes type11.9
3pseudohermaphroditism, female, with skeletal anomalies11.9
4pseudovaginal perineoscrotal hypospadias11.8
5pseudohermaphroditism, male, with gynecomastia11.8
6chondrodysplasia-pseudohermaphroditism syndrome11.8
7aromatase deficiency11.8
8male pseudohermaphroditism intellectual disability syndrome, verloes type11.8
9male pseudohermaphroditism due to defective lh molecule11.7
10leydig cell hypoplasia11.6
11denys-drash syndrome11.5
125-alpha reductase deficiency11.3
13lipoid adrenal hyperplasia11.3
14persistent mullerian duct syndrome, type ii11.3
1546xy sex reversal 811.2
16androgen insensitivity11.1
17persistent mullerian duct syndrome11.1
1846,xx disorder of sex development-anorectal anomalies syndrome11.1
19frasier syndrome10.9
20meacham syndrome10.7
21aromatase excess syndrome10.7
22dysmorphism-short stature-deafness-disorder of sex development syndrome10.7
23hermaphroditism10.3
24limbic encephalitis10.2HSD17B3, LHCGR
25intraventricular meningioma10.2AR, SRD5A2
26thai symphalangism syndrome10.2CYP19A1, LHCGR
27clear cell acanthoma10.2CYP17A1, HSD3B2
28bent bone dysplasia syndrome10.1CYP17A1, CYP19A1
29congenital adrenal hyperplasia10.1
30cardiomyopathy, dilated, 1v10.1CYP17A1, CYP19A1
31acute thyroiditis10.1CYP19A1, LHCGR
32jackson-weiss syndrome10.1CYP17A1, HSD3B2
33deafness, autosomal recessive 7410.1CYP17A1, CYP19A1
34mature teratoma10.1AR, LHCGR
35dystonia-parkinsonism, x-linked10.1AR, CYP19A1
36epidemic typhus10.1CYP17A1, CYP19A1
37osteogenesis imperfecta10.1AR, CYP19A1
38glioblastoma mesenchymal subtype10.1AR, CYP19A1
39exocervical carcinoma10.1AR, CYP17A1
40congenital articular rigidity10.0AR, CYP19A1
41gynecomastia10.0
42liver sarcoma10.0CYP17A1, CYP19A1, LHCGR
43leukoencephalopathy with ataxia10.0AR, CYP19A1, SRD5A2
44esophagus sarcoma10.0AR, CYP19A1
45hypospadias 1, x-linked10.0AR, CYP19A1, SRD5A2
46skin hemangioma10.0AR, CYP19A1, SRD5A2
47pelvic muscle wasting10.0CYP17A1, CYP19A1, HSD3B2
48capillary disease10.0AR, CYP19A1, HSD17B3
49primary biliary cirrhosis10.0CYP17A1, CYP19A1, HSD3B2
50palmoplantar keratoderma, bothnian type10.0AMH, AMHR2

Graphical network of the top 20 diseases related to Pseudohermaphroditism:



Diseases related to pseudohermaphroditism

Symptoms & Phenotypes for Pseudohermaphroditism

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MGI Mouse Phenotypes related to Pseudohermaphroditism according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.7AMHR2, AR, CYP19A1, LHCGR, WT1
2MP:00053797.6AMH, AMHR2, AR, CYP19A1, LHCGR, SRD5A2
3MP:00053896.5AMH, AMHR2, AR, CYP17A1, CYP19A1, LHCGR

Drugs & Therapeutics for Pseudohermaphroditism

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Mutation Analysis of 17╬▓hydroxysteroid Dehydrogenase 3 DeficiencyUnknown statusNCT00173654
2Mutation Analysis of 17╬▒-HydroxylaseUnknown statusNCT00172510

Search NIH Clinical Center for Pseudohermaphroditism

Genetic Tests for Pseudohermaphroditism

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Anatomical Context for Pseudohermaphroditism

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MalaCards organs/tissues related to Pseudohermaphroditism:

36
Testis, Ovary, Testes, Skin, Uterus, Kidney, Bone

Publications for Pseudohermaphroditism

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Articles related to Pseudohermaphroditism:

(show top 50)    (show all 485)
idTitleAuthorsYear
1
Idiopathic female pseudohermaphroditism with urethral duplication and female hypospadias. (26965407)
2016
2
Effects of feminizing reconstructive surgery on sexual function and genital sensitivity in patients with female pseudohermaphroditism versus healthy control. (27172824)
2016
3
Congenital adrenal hyperplasia and vanishing testis: rare case of male pseudohermaphroditism. (27294221)
2016
4
Male Pseudohermaphroditism: Ambiguous genitalia. (27617556)
2016
5
Female pseudohermaphroditism: strategy and bias in a fast diagnosis. How tricky could be a diagnosis with a wrong anamnesis. (25599724)
2014
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
WT1 microdeletion and slowly progressing focal glomerulosclerosis in a patient with male pseudohermaphroditism, childhood leukemia, Wilms tumor and cerebellar angioblastoma. (23618379)
2013
8
Two cases of pseudohermaphroditism in loggerhead sea turtles Caretta caretta. (23999702)
2013
9
Female pseudohermaphroditism in a prenatally diagnosed cloacal malformation with hydronephrosis, dilated bladder, hydrometrocolpos, and oligohydramnios. (24411046)
2013
10
A unique case of female pseudohermaphroditism with 21-hydroxylase deficiency and small supernumerary marker chromosome 7. (23450434)
2013
11
A rare adolescent case of female pseudohermaphroditism with adrenocortical carcinoma and synchronous teratoma. (23528907)
2013
12
Female pseudohermaphroditism associated with maternal steroid cell tumor, not otherwise specified of the ovary: a case report and literature review. (24597265)
2013
13
Two-step surgery for a unique case of idiopathic female pseudohermaphroditism. Surgical treatment in an exceptional combined uro-genital malformation. (23110911)
2012
14
Tetralogy of fallot associated with dysplastic kidneys, cloacal anomalies, and female pseudohermaphroditism: a systemic anomaly of septation? (22811944)
2012
15
Male pseudohermaphroditism presented with sudden cardiac arrest. (22477014)
2012
16
Clinical, genetic, and pathological features of male pseudohermaphroditism in dog. (21255434)
2011
17
Male pseudohermaphroditism with mixed germ cell tumor. (21298767)
2011
18
Male pseudohermaphroditism as a cause of secondary hypertension: a case report. (20960109)
2010
19
Mutational analysis of androgen receptor gene in four Chinese patients with male pseudohermaphroditism. (20056211)
2010
20
Staged reconstruction of the labia minora and reduction clitoroplasty for female pseudohermaphroditism. (20414773)
2010
21
Persistent cloaca, fused kidneys, female pseudohermaphroditism and skeletal anomalies in a simmental calf. (19469769)
2009
22
Activation of the Hedgehog pathway in the mouse fetal ovary leads to ectopic appearance of fetal Leydig cells and female pseudohermaphroditism. (19268447)
2009
23
A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism. (19551906)
2009
24
Molecular diagnosis of 5alpha-reductase-2 gene mutation in two Indian families with male pseudohermaphroditism. (18097518)
2008
25
17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite. (17509588)
2008
26
Laparoscopy and intersex: report of 5 cases of male pseudohermaphroditism. (18319558)
2008
27
Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism. (18314109)
2008
28
Mutations in a novel, cryptic exon of the luteinizing hormone/chorionic gonadotropin receptor gene cause male pseudohermaphroditism. (18433292)
2008
29
Male pseudohermaphroditism and gonadal mosaicism in a 47,XY,+22 fetus. (16835917)
2006
30
Complex urogenital malformation associated with female pseudohermaphroditism: caudal dysgenesis syndrome. (17128566)
2006
31
Male pseudohermaphroditism in a Labrador Retriever, and a review of mammalian sexual differentiation. (17028664)
2006
32
A novel frameshift mutation in the 5alpha-reductase type 2 gene in Korean sisters with male pseudohermaphroditism. (16500352)
2006
33
Rare association of female pseudohermaphroditism, phallic urethra, and posterior cloaca. (16516639)
2006
34
Long-term surgical results and patient satisfaction with male pseudohermaphroditism or true hermaphroditism: a cohort of 63 patients. (16600787)
2006
35
Idiopathic male pseudohermaphroditism: variations in presentation and management. (16042324)
2005
36
A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family. (16098368)
2005
37
Enlarged clitoris in wild polar bears (Ursus maritimus) can be misdiagnosed as pseudohermaphroditism. (15626378)
2005
38
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency and insulin resistance in a girl with Turner syndrome. (16052861)
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
Male Pseudohermaphroditism in a raccoon dog (Nyctereutes procynoides). (15997188)
2005
41
XY male pseudohermaphroditism in a captive Arabian oryx (Oryx leucoryx). (17312771)
2005
42
A novel double mutation in the luteinizing hormone receptor in a kindred with familial Leydig cell hypoplasia and male pseudohermaphroditism. (16433250)
2005
43
Idiopathic male pseudohermaphroditism is associated with prenatal growth retardation. (15711770)
2005
44
Male pseudohermaphroditism. (19810311)
2005
45
Clinical, biochemical and morphologic diagnostic markers in an infant male pseudohermaphrodite patient with compound heterozygous mutations (G115D/R246W) in SRD5A2 gene. (15528927)
2004
46
Congenital adrenal hypoplasia and male pseudohermaphroditism due to DAX1 mutation, SF1 mutation or neither: a patient report. (15379426)
2004
47
What is your diagnosis? Male pseudohermaphroditism. (15460200)
2004
48
Genetic sex determination, gender identification and pseudohermaphroditism in the knobbed whelk, Busycon carica (Mollusca: Melongenidae). (15156923)
2004
49
Pseudohermaphroditism. (15136360)
2004
50
Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin. (15064320)
2004

Variations for Pseudohermaphroditism

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Expression for genes affiliated with Pseudohermaphroditism

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Search GEO for disease gene expression data for Pseudohermaphroditism.

Pathways for genes affiliated with Pseudohermaphroditism

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GO Terms for genes affiliated with Pseudohermaphroditism

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

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulumGO:00057839.3CYP17A1, CYP19A1, HSD17B3, HSD3B2, SRD5A2
2endoplasmic reticulum membraneGO:00057898.6CYP17A1, CYP19A1, HSD17B3, HSD3B2, SRD5A2

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1glucocorticoid biosynthetic processGO:000670410.5CYP17A1, HSD3B2
2androgen metabolic processGO:000820910.4CYP19A1, SRD5A2
3progesterone metabolic processGO:004244810.4CYP17A1, SRD5A2
4female genitalia developmentGO:003054010.4CYP19A1, SRD5A2
5cellular response to gonadotropin stimulusGO:007137110.3LHCGR, WT1
6female gonad developmentGO:000858510.2AMHR2, CYP19A1
7prostate gland growthGO:00607369.9AR, CYP19A1
8sterol metabolic processGO:00161259.9CYP17A1, CYP19A1
9gonad developmentGO:00084069.8AMH, WT1
10Mullerian duct regressionGO:00018809.8AMH, AMHR2
11androgen biosynthetic processGO:00067029.8CYP17A1, HSD17B3, HSD3B2, SRD5A2
12sex determinationGO:00075309.7AMH, WT1
13male genitalia developmentGO:00305399.6HSD17B3, LHCGR, SRD5A2, WT1
14cell-cell signalingGO:00072679.4AMH, AR, SRD5A2
15testosterone biosynthetic processGO:00613709.4CYP19A1, HSD17B3, SRD5A2
16oxidation-reduction processGO:00551149.2CYP17A1, CYP19A1, HSD17B3, HSD3B2, SRD5A2
17steroid biosynthetic processGO:00066949.0CYP17A1, CYP19A1, HSD17B3, HSD3B2, SRD5A2
18male gonad developmentGO:00085848.8AMHR2, AR, LHCGR, SRD5A2, WT1
19sex differentiationGO:00075488.4AMH, AMHR2, AR, CYP17A1, SRD5A2

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

idNameGO IDScoreTop Affiliating Genes
1oxygen bindingGO:00198259.7CYP17A1, CYP19A1
2oxidoreductase activityGO:00164919.1CYP17A1, CYP19A1, HSD17B3, HSD3B2, SRD5A2

Sources for Pseudohermaphroditism

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet