A Novel Mutation of the 5α-Reductase Type 2 Gene in Two Unrelated Egyptian Children with Ambiguous Genitalia

Abstract

1) We report a new mutation that enlarges the spectrum of genetic defects in 5alphaR deficiency. 2) Although the two patients were referred at very different ages, the clinical presentations raise the possibility of phenotypic variability for the same mutation. 3) These reports underline the difficulty of diagnosing 5alphaR deficiency based only on clinical and biochemical grounds. Molecular study remains the only definitive tool for diagnosis of ambiguous genitalia.