A novel SRD5A2 mutation in a Taiwanese newborn with ambiguous genitalia.

摘要: The 5α-reductase type 2 deficiency is a rare autosomal recessive 46,XY disorder of sex development caused by the mutated (SRD5A2) gene. In this disease, defective conversion testosterone to dihydrotestosterone leads variable presentations male ambiguous genitalia during fetal development. most crucial clinical decision for affected individual proper gender assignment; therefore, prompt and correct diagnosis important. present study, we report normal karyotype manifesting microphallus, bifid scrotum/labia majora with bilateral palpable gonads, blind-ended pseudovagina. mutation analysis SRD5A2 gene revealed one novel C T transition changing glutamine stop codon at 71 (p.Q71X) in exon 1 known G A arginine 227 (p.R227Q) 4. p.Q71X presumably results truncated protein, while p.R227Q conceived impair enzyme function has been reported patients East Asian descent. This demonstrates essential role hormonal molecular studies genetic counseling assignment males pseudovaginal development, our helps identify Taiwanese population.