×
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
GeneticVariation
BEFREE
We present detailed phenotypic and genotypic features of a cohort of 24 subjects from a highly consanguineous population of Saudi Arabia SUBJECTS AND METHODS: We studied the clinical presentation and hormonal profiles of 24 subjects diagnosed with 5-α reductase deficiency and performed genetic testing on DNA isolated from their peripheral blood using polymerase chain reaction and direct sequencing of the SRD5A2 .
30269266 2019
×
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
GeneticVariation
BEFREE
We reported novel candidate genes (BMPR1B, GNAS, GHR) and regions of copy number variants outside the expected DSD genotype-phenotype correlation, and determined a founder mutation (SRD5A2 p.R227Q ) in patients with 5α-reductase deficiency .
31277073 2019
×
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
GeneticVariation
BEFREE
Mutations in the SRD5A2 gene cause 5-α-Reductase deficiency ; although it is an infrequent disorder, it has been reported worldwide, with mutational heterogeneity.
29858846 2018
×
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
CausalMutation
CLINVAR
Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency.
28544750 2017
×
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
CausalMutation
CLINVAR
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
27899157 2016
×
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
CausalMutation
CLINVAR
Homozygous p.R246Q Mutation and Impaired Spermatogenesis: Long Term Follow-up of 4 Children from One Family with 5 Alpha Reductase 2 Deficiency.
26446026 2016
×
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
CausalMutation
CLINVAR
5α-Reductase-2 Deficiency: Clinical Findings, Endocrine Pitfalls, and Genetic Features in a Large Italian Cohort.
27070133 2016
×
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
CausalMutation
CLINVAR
Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients.
25605705 2015
×
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
GeneticVariation
CLINVAR
Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China.
25899528 2015
×
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
CausalMutation
CLINVAR
Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China.
25899528 2015
×
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
CausalMutation
CLINVAR
Phenotypic and molecular characteristics in eleven Chinese patients with 5α-reductase Type 2 deficiency.
24665940 2014
×
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
CausalMutation
CLINVAR
Molecular diagnosis of 5α-reductase deficiency in 4 elite young female athletes through hormonal screening for hyperandrogenism.
23633205 2013
×
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
CausalMutation
CLINVAR
A novel SRD5A2 mutation in a Taiwanese newborn with ambiguous genitalia.
22453073 2012
×
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
CausalMutation
CLINVAR
The earlier described mutation (c.307c > T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype.
22876553 2012
×
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
CausalMutation
CLINVAR
Clinical and genetic analysis of three Chinese patients with steroid 5α-reductase type 2 deficiency.
23329752 2012
×
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
GeneticVariation
BEFREE
The IVS1-2A>G mutation of the SRD5A2 gene predominates in Greek-Cypriot patients with 5α-reductase deficiency and very likely reflects a founder effect.
22001134 2012
×
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
CausalMutation
CLINVAR
Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.
21147889 2011
×
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
CausalMutation
CLINVAR
Five novel mutations of SRD5A2 found in eight Chinese patients with 46,XY disorders of sex development.
20736251 2011
×
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
CausalMutation
CLINVAR
Molecular analysis of the SRD5A2 in 46,XY subjects with incomplete virilization: the P212R substitution of the steroid 5alpha-reductase 2 may constitute an ancestral founder mutation in Mexican patients.
20019388 2011
×
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
CausalMutation
CLINVAR
SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation.
21631525 2011
×
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
CausalMutation
CLINVAR
Molecular diagnosis of 5α-reductase type II deficiency in Brazilian siblings with 46,XY disorder of sex development.
22272144 2011
×
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
CausalMutation
CLINVAR
Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinic.
21402750 2011
×
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
CausalMutation
CLINVAR
A novel SRD5A2 mutation with loss of function identified in Chinese patients with hypospadias.
21540559 2011
×
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
GeneticVariation
BEFREE
DNAs of two 46,XY DSD Indonesian siblings, aged 13 and 18 years old, with clinically suspected of 5-alpha-reductase deficiency and their mother were analysed for molecular defects of SRD5A2 gene.
21714467 2010
×
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
GeneticVariation
BEFREE
Undervirilization in XY newborns may hide a 5α-reductase deficiency : report of three new SRD5A2 gene mutations.
20132346 2010