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 …

[HTML][HTML] 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review

A Avendaño, I Paradisi, F Cammarata-Scalisi, M Callea - Hormones, 2018 - Springer
α-Reductase type 2 enzyme catalyzes the conversion of testosterone into
dihydrotestosterone, a potent androgen responsible for male sexual development during the …

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 …

Phenotype, genotype and gender identity in a large cohort of patients from India with 5α‐reductase 2 deficiency

I Shabir, ML Khurana, AA Joseph, M Eunice… - …, 2015 - Wiley Online Library
Deficiency of the 5α‐reductase 2 enzyme impairs the conversion of testosterone to
dihydrotestosterone (DHT) and differentiation of external genitalia, seminal vesicles and …

Integrative and analytical review of the 5-alpha-reductase type 2 deficiency worldwide

RL Batista, BB Mendonca - The Application of Clinical Genetics, 2020 - Taylor & Francis
Introduction The conversion of testosterone into dihydrotestosterone is catalyzed by the 5α-
reductase type 2 enzyme which plays a crucial role in the external genitalia virilization. It is …

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 …

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 …

Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients

L Maimoun, P Philibert, B Cammas… - The Journal of …, 2011 - academic.oup.com
abstract Context: In 46, XY disorders of sex development, 5α-reductase deficiency is rare
and is not usually the first-intention diagnosis in newborn ambiguous genitalia, contrary to …

Practical approach to steroid 5alpha-reductase type 2 deficiency

CK Cheon - European journal of pediatrics, 2011 - Springer
The aim of this article is to review the literature on steroid 5alpha-reductase type 2 deficiency
(5α-RD2) to provide clinicians with information to guide their management of patients with …

[HTML][HTML] Novel compound heterozygous mutations in the SRD5A2 gene from 46, XY infants with ambiguous external genitalia

F Vilchis, E Valdez, L Ramos, R García… - Journal of human …, 2008 - nature.com
Dihydrotestosterone is crucial for normal development of external genitalia and prostate in
the male embryo. Autosomal recessive mutations in the 5α-reductase type 2 (SRD5A2) gene …