[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 …

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 …

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 …

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 …

5α-reductase-2 deficiency: clinical findings, endocrine pitfalls, and genetic features in a large Italian cohort

S Bertelloni, F Baldinotti, G Russo, P Ghirri, E Dati… - Sexual …, 2016 - karger.com
Abstract Clinical records (n= 24) with an established diagnosis of 5α-reductase-2 deficiency
were reviewed. A previous misdiagnosis was present in about 70%(period from first …

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 …

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 …