46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: MALE PSEUDOHERMAPHRODITISM DUE TO 5-ALPHA-REDUCTASE DEFICIENCY
FAMILIAL INCOMPLETE MALE PSEUDOHERMAPHRODITISM, TYPE 2
PPSH
Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency
Number of Symptoms 32
OrphanetNr: 753
OMIM Id: 264600
ICD-10: Q56.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
Adolescent
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare gynecologic or obstetric disease
 -Rare urogenital disease

Symptom Information: Sort by abundance 

1
 (HPO:0100779) Urogenital sinus anomaly Very frequent [Orphanet] 5 / 7739
2
 (HPO:0000048) Bifid scrotum Very frequent [Orphanet] 36 / 7739
3
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
4
 (HPO:0000054) Micropenis Very frequent [Orphanet] 257 / 7739
5
 (HPO:0000046) Scrotal hypoplasia Very frequent [Orphanet] 54 / 7739
6
 (HPO:0000047) Hypospadias Very frequent [Orphanet] 250 / 7739
7
 (HPO:0000062) Ambiguous genitalia Very frequent [Orphanet] 74 / 7739
8
 (HPO:0000051) Perineal hypospadias 6 / 7739
9
 (HPO:0000789) Infertility Very frequent [Orphanet] 74 / 7739
10
 (HPO:0000033) Ambiguous genitalia, male 9 / 7739
11
 (HPO:0000037) Male pseudohermaphroditism Very frequent [Orphanet] 25 / 7739
12
 (HPO:0000818) Abnormality of the endocrine system 26 / 7739
13
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
14
 (HPO:0001595) Abnormality of the hair 89 / 7739
15
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
16
 (HPO:0001608) Abnormality of the voice 126 / 7739
17
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
18
 (OMIM) Scanty pubertal beard 1 / 7739
19
 (OMIM) No breast development or menstruation at puberty 1 / 7739
20
 (HPO:0003812) Phenotypic variability 129 / 7739
21
 (OMIM) Blind perineal pouch resembling vagina 1 / 7739
22
 (OMIM) 5-alpha-reductase-2 enzyme deficiency 1 / 7739
23
 (OMIM) Small prostate 1 / 7739
24
 (OMIM) Plasma testosterone is normal or increased 1 / 7739
25
 (OMIM) Defective DHT formation 1 / 7739
26
 (MedDRA:10037122) Pseudohermaphroditism 2 / 7739
27
 (OMIM) Masculinization at puberty 1 / 7739
28
 (OMIM) Male pubertal voice change 1 / 7739
29
 (OMIM) Wolffian differentiation 1 / 7739
30
 (OMIM) Plasma dihydrotestosterone (DHT) is decreased 1 / 7739
31
 (OMIM) Cryptorchid testes 1 / 7739
32
 (OMIM) No Mullerian structures 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Pseudovaginal perineoscrotal hypospadias is a form of male pseudohermaphroditism in which 46,XY males show ambiguous genitalia at birth, including perineal hypospadias and a blind perineal pouch, and develop masculinization at puberty. The name of the disorder stems from ...
Clinical Description OMIM De Vaal (1955) reported 3 brothers who were thought for a time to be girls. The parents and grandparents on one side were first cousins, and the great-grandparents were also related. Simpson et al. (1971) described a family ...
Molecular genetics OMIM Jenkins et al. (1992) showed that the enzyme encoded by SRD5A1 (184753) on chromosome 5 is not the site of the defect in classic PPSH; in 16 patients with deficiency of 5-alpha-reductase, no SRD5A1 gene rearrangements were detected; ...