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|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, Laura C.|
Gomes, Larissa G.
Brito, Vinícius N.
Lemos-Marini, Sofia H.V.
de Mello, Maricilda P.
Longui, Carlos A.
de Castro, Margaret
Guerra Jr., Gil
Mendonca, Berenice B.
Bachega, Tânia 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. To evaluate the influence of POR, HSD17B5 and SRD5A2 variants on the severity of external genitalia virilization in 21-OHD females. 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. 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. We demonstrated that a variant in the promoter region of HSD17B5 related to fetal androgen synthesis influences the genital phenotype in 21-OHD females|
|Subject:||Aparelho genital feminino - Doenças|
|Appears in Collections:||FCM - Artigos e Outros Documentos|
CBMEG - Artigos e Outros Documentos
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