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 …

[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 …

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 …

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 …

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 …

New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype–phenotype profiling of SRD5A2 in 190 Chinese …

B Gui, Y Song, Z Su, FH Luo, L Chen, X Wang… - Journal of Medical …, 2019 - jmg.bmj.com
Background The 5α-reductase type 2 (5α-RD2) deficiency caused by mutations in the
steroid 5α-reductase 2 (SRD5A2) gene results in variable degrees of undervirilisation in …

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 …

5α-Reductase 2 gene mutations in three unrelated patients of Greek Cypriot origin: identification of an ancestral founder effect

N Skordis, PC Patsalis, I Bacopoulou… - Journal of Pediatric …, 2005 - degruyter.com
Introduction: 5a-Steroid reductase deficiency (5aSRD) is an autosomal recessive enzymatic
deficiency. Mutations in the 5a-steroid reductase type 2 gene (SRD5A2) result in male …

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 …

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 …