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 …
and is not usually the first-intention diagnosis in newborn ambiguous genitalia, contrary to …
[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 …
dihydrotestosterone, a potent androgen responsible for male sexual development during the …
New mutations, hotspots, and founder effects in Brazilian patients with steroid 5α-reductase deficiency type 2
C Hackel, LEC Oliveira, LFC Ferraz… - Journal of Molecular …, 2005 - Springer
Mutations of the steroid 5α-reductase type 2 (SRD5A2) gene in 46, XY subjects cause
masculinization defects of varying degrees, due to reduced or impaired enzymatic activity. In …
masculinization defects of varying degrees, due to reduced or impaired enzymatic activity. 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 …
were reviewed. A previous misdiagnosis was present in about 70%(period from first …
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 …
Molecular analysis of 5α‐reductase type 2 gene in eight unrelated Egyptian children with suspected 5α‐reductase deficiency: prevalence of the G34R mutation
I Mazen, YZ Gad, M Hafez, C Sultan… - Clinical …, 2003 - Wiley Online Library
Summary objective Analysis of the 5α‐reductase type 2 (SRD5A2) gene in Egyptian patients
with suspected 5α‐reductase (5αR) deficiency. patients and methods Eight unrelated …
with suspected 5α‐reductase (5αR) deficiency. patients and methods Eight unrelated …
[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 …
the male embryo. Autosomal recessive mutations in the 5α-reductase type 2 (SRD5A2) gene …
The IVS1- 2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency
N Skordis, V Neocleous, A Kyriakou… - Journal of …, 2010 - Springer
Background: 5α steroid reductase deficiency (5αSRD) is an autosomal recessive enzymatic
deficiency and mutations in the 5α steroid reductase type 2 gene (SRD5A2) result in male …
deficiency and mutations in the 5α steroid reductase type 2 gene (SRD5A2) result in male …
[PDF][PDF] Phenotype, sex of rearing, gender re-assignment, and response to medical treatment in extended family members with a novel mutation in the SRD5A2 gene
A Deeb, H Al Suwaidi… - Journal of Clinical …, 2016 - jag.journalagent.com
Deficiency of steroid 5-alpha reductase-2 (5ARD2) is an inborn error of metabolism causing
a disorder of sexual differentiation. It is caused by a mutation in the SRD5A2 gene in which …
a disorder of sexual differentiation. It is caused by a mutation in the SRD5A2 gene in which …
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 …