Five novel mutations of SRD5A2 found in eight Chinese patients with 46,XY disorders of sex development
M Nie, Q Zhou, J Mao, S Lu, X Wu - Molecular human …, 2011 - academic.oup.com
Individuals with male karyotype (46, XY) affected by 5α-reductase type 2 deficiency, a rare
autosomal recessive inherited disorder, can have an almost female phenotype or partially …
autosomal recessive inherited disorder, can have an almost female phenotype or partially …
[HTML][HTML] Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism
T Sahakitrungruang, S Wacharasindhu, P Yeetong… - Fertility and sterility, 2008 - Elsevier
OBJECTIVE: To describe two unrelated Thai patients with suspected 5α-reductase type 2
deficiency and perform mutation analysis of the SRD5A2 gene. DESIGN: Case report …
deficiency and perform mutation analysis of the SRD5A2 gene. DESIGN: Case report …
A novel homozygous disruptive mutation in the SRD5A2‐gene in a partially virilized patient with 5α‐reductase deficiency
O Hiort, SM Schütt, M Bals‐Pratsch… - … journal of andrology, 2002 - Wiley Online Library
Steroid 5α‐reductase deficiency is a rare autosomal recessive disorder caused by mutations
in the SRD5A2‐gene, resulting in diminished dihydrotestosterone (DHT) formation and …
in the SRD5A2‐gene, resulting in diminished dihydrotestosterone (DHT) formation and …
Phenotypic and molecular characteristics in eleven C hinese patients with 5α‐reductase T ype 2 deficiency
H Zhu, W Liu, B Han, M Fan, S Zhao… - Clinical …, 2014 - Wiley Online Library
Context Steroid 5α‐reductase type 2 deficiency (5α‐RD 2) is a male‐limited, autosomal
recessive inherited disease. Affected 46, XY individuals usually present with ambiguous …
recessive inherited disease. Affected 46, XY individuals usually present with ambiguous …
Compound Heterozygous Mutations in the SRD5A2 Gene Exon 4 in a Male Pseudohermaphrodite Patient of Chinese Origin
M Fernández‐Cancio, M Nistal, R Gracia… - Journal of …, 2004 - Wiley Online Library
The goal of this study was to perform 5‐α‐reductase type 2 gene (SRD5A2) analysis in a
male pseudohermaphrodite (MPH) patient with normal testosterone (T) production and …
male pseudohermaphrodite (MPH) patient with normal testosterone (T) production and …
The molecular basis of 5α-reductase type 2 deficiency
RL Batista, BB Mendonca - Sexual Development, 2022 - karger.com
The 5α-reductase type 2 enzyme catalyzes the conversion of testosterone into
dihydrotestosterone, playing a crucial role in male development. This enzyme is encoded by …
dihydrotestosterone, playing a crucial role in male development. This enzyme is encoded by …
Identification of missense mutations in the SRD5A2 gene from patients with steroid 5α‐reductase 2 deficiency
Vilchis, Méndez, Canto, Lieberman… - Clinical …, 2000 - Wiley Online Library
BACKGROUND AND OBJECTIVE Mutations of the steroid 5α‐reductase type 2 (SRD5A2)
gene in karyotypic males result in a spectrum of external genitalia phenotypes ranging from …
gene in karyotypic males result in a spectrum of external genitalia phenotypes ranging from …
Identification of three novel SRD5A2 mutations in Chinese patients with 5α-reductase 2 deficiency
T Cheng, H Wang, B Han, H Zhu, HJ Yao… - Asian Journal of …, 2019 - journals.lww.com
In this study, we investigated the genetics, clinical features, and therapeutic approach of 14
patients with 5α-reductase deficiency in China. Genotyping analysis was performed by direct …
patients with 5α-reductase deficiency in China. Genotyping analysis was performed by direct …
Molecular Analysis of the SRD5A2 in 46,XY Subjects With Incomplete Virilization: The P212R Substitution of the Steroid 5α‐Reductase 2 May Constitute an Ancestral …
F Vilchis, L Ramos, JP Méndez… - Journal of …, 2010 - Wiley Online Library
Inactivating mutations of the SRD5A2 gene result in steroid 5α‐reductase 2 deficiency, an
autosomal recessive disorder expressed as a male‐limited disorder of sex development …
autosomal recessive disorder expressed as a male‐limited disorder of sex development …
Molecular characterization of 6 unrelated Italian patients with 5α‐reductase type 2 deficiency
F Baldinotti, S Majore, A Fogli, G Marrocco… - Journal of …, 2008 - Wiley Online Library
Steroid 5α‐reductase (5αR) deficiency (OMIM number# 264600) is a rare 46, XY disorder of
sex differentiation caused by mutations in the 5αR type 2 gene (SRD5A2) resulting in …
sex differentiation caused by mutations in the 5αR type 2 gene (SRD5A2) resulting in …