Characterising SRD5A2 Gene Variants in 37 Indonesian Patients with 5-Alpha-Reductase Type 2 Deficiency

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

(2018) Andrea Avendaño et al.   Hormones-International Journal of Endocrinology and Metabolism

Steroid hormone analysis in diagnosis and treatment of DSD: position paper of EU COST Action BM 1303 ‘DSDnet’

(2017) A Kulle et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development

(2017) Chupong Ittiwut et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Human Chorionic Gonadotropin Test: Old Uncertainties, New Perspectives, and Value in 46,XY Disorders of Sex Development

(2017) Silvano Bertelloni et al.   Sexual Development

Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China

(2015) Jing Cheng et al.   CLINICAL ENDOCRINOLOGY

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

(2015) I. Shabir et al.   Andrology

ARandSRD5A2gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity

(2014) T. Akcay et al.   Andrology

Diagnosis of 5 -Reductase 2 Deficiency: Is Measurement of Dihydrotestosterone Essential?

(2013) A. O. K. Chan et al.   CLINICAL CHEMISTRY

Clinical biochemistry of dihydrotestosterone

(2013) P. M. Marchetti et al.   ANNALS OF CLINICAL BIOCHEMISTRY

Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinic

(2011) Marta Berra et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Pitfalls in the Diagnosis of 5α-Reductase Type 2 Deficiency during Early Infancy

(2011) R.J. Perry et al.   Hormone Research in Paediatrics

SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation

(2011) M. Fernández-Cancio et al.   INTERNATIONAL JOURNAL OF ANDROLOGY

Two Novel Mutations of SRD5A2 Gene in Indonesian Siblings with Clinical 5-Alpha-Reductase Deficiency

(2011) Nanis S. Marzuki et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Investigation and initial management of ambiguous genitalia

(2010) S. Faisal Ahmed et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Difficulties in Diagnosis and Treatment of 5α-Reductase Type 2 Deficiency in a Newborn with 46,XY DSD

(2010) Kerstin N. Walter et al.   Hormone Research in Paediatrics

Phenotypical, Biological, and Molecular Heterogeneity of 5α-Reductase Deficiency: An Extensive International Experience of 55 Patients

(2010) Laurent Maimoun et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Five novel mutations of SRD5A2 found in eight Chinese patients with 46,XY disorders of sex development

(2010) M. Nie et al.   MOLECULAR HUMAN REPRODUCTION

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

(2008) Felipe Vilchis et al.   JOURNAL OF HUMAN GENETICS