Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children With 46,XY DSD

Androgen insensivity syndrome (AIS) and 5α-reductase deficiency (5α-RD) present indistinguishable phenotypes among the 46,XY disorders of sexual development (DSD) that usually necessitate molecular analyses for definitive diagnosis in prepubertal period . The aim was to evaluate clinical, hormonal genetic findings DSD patients who were diagnosed as AIS or 5α-RD.Patients 5α-RD according clinical evaluations investigated. Sequence variants steroid 5-α-reductase type 2 (SRD5A2) analyzed cases with testostetone/dihydrotestosterone (T/DHT) ratio ≥ 20, whereas androgen receptor (AR) gene screened when below 20. Stepwise analysis other associated genes no causative variant found previous analysis. For statistical comparisons, group divided into three main groups subgroups their T/DHT ratios.A total 128 from non-related 125 families enrolled. Birth weight SDS gestational weeks significantly higher than undiagnosed groups. Completely female phenotype all both subgroups. In those stimulated lower 20 period, group, 5α-RD. Phenotype detected 24% (n=18 AIS, n=14 5α-RD) patients, revealing four novel AR (c.94G>T, p.Glu32*, c.330G>C, p.Leu110=; c.2084C>T, p.Pro695Leu, c.2585_2592delAGCTCCTG, p.(Lys862Argfs*16), c. c.330G>C silent status remained undefined terms its effects.T/DHT is an important criterion, but some cases, may lead diagnostic confusion. Molecular robust correctly. Four identified our study.