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Type: Artigo
Title: A Single Nucleotide Variant In The Promoter Region Of 17β-hsd Type 5 Gene Influences External Genitalia Virilization In Females With 21-hydroxylase Deficiency
Author: Kaupert L.C.
Gomes L.G.
Brito V.N.
Lemos-Marini S.H.V.
De Mello M.P.
Longui C.A.
Kochi C.
De Castro M.
Guerra G.
Mendonca B.B.
Bachega T.A.S.S.
Abstract: 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 the influence of POR, HSD17B5 and SRD5A2 variants on the severity of external genitalia virilization in 21-OHD females. Design and Patients: Prader stages were evaluated in 178 females with 21-OHD from a multicenter study. The 21-OHD genotypes were divided into two groups according to their severity: severe and moderate. The influences of the POR p.A503V, HSD17B5 c.-71A>G, HSD17B5 c.-210A>C, and SRD5A2 p.A49T and p.V89L variants on the degree of external genitalia virilization were analyzed. Results: The POR p.A503V, HSD17B5 c.-71A>G, HSD17B5 c.-210A>C, and SRD5A2 p.A49T and p.V89L variants were found in 25, 33, 17, 1, and 31% of the alleles, respectively. In uni- and multilinear regression, HSD17B5 c.-210A>C has a significant influence on the degree of external genitalia virilization. This variant was also identified with a higher frequency in the most severely virilized females. Conclusion: We demonstrated that a variant in the promoter region of HSD17B5 related to fetal androgen synthesis influences the genital phenotype in 21-OHD females. © 2016 S. Karger AG, Basel.
Subject: 17-hydroxysteroid Dehydrogenase Type 5
21-hydroxylase Deficiency
Allelic Variants
External Genitalia Virilization
Fetal Androgen Synthesis Pathway
Editor: S. Karger AG
Rights: fechado
Identifier DOI: 10.1159/000445684
Date Issue: 2016
Appears in Collections:Unicamp - Artigos e Outros Documentos

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