Article
A Single Nucleotide Variant in the Promoter Region of 17β-HSD Type 5 Gene Influences External Genitalia Virilization in Females with 21-Hydroxylase Deficiency.
Hormone research in paediatrics - 1 Jan 2016
Kaupert Laura C, Gomes Larissa G, Brito Vinícius N, Lemos-Marini Sofia H V, de Mello Maricilda P, Longui Carlos A, Kochi Cristiane, de Castro Margaret, Guerra Gil, Mendonca Berenice B, Bachega Tânia A S S
Abstract excerpt
BACKGROUND: In 21-hydroxylase deficiency (21-OHD), there is an influence of genotype on the severity of external genitalia virilization. However, females carrying mutations predicting a similar impairment of enzymatic activity present a wide variability of genital phenotypes. In such cases, interindividual variability in genes related to the sex steroid hormone pathway could play a role. OBJECTIVE: To evaluate...
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