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• W2336216744 abstract "<b><i>Background:</i></b> 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. <b><i>Objective:</i></b> To evaluate the influence of <i>POR</i>, <i>HSD17B5</i> and <i>SRD5A2</i> variants on the severity of external genitalia virilization in 21-OHD females. <b><i>Design and Patients:</i></b> 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 <i>POR</i> p.A503V, <i>HSD17B5</i> c.-71A>G, <i>HSD17B5</i> c.-210A>C, and <i>SRD5A2</i> p.A49T and p.V89L variants on the degree of external genitalia virilization were analyzed. <b><i>Results:</i></b> The <i>POR</i> p.A503V, <i>HSD17B5</i> c.-71A>G, <i>HSD17B5</i> c.-210A>C, and <i>SRD5A2</i> p.A49T and p.V89L variants were found in 25, 33, 17, 1, and 31% of the alleles, respectively. In uni- and multilinear regression, <i>HSD17B5</i> 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. <b><i>Conclusion:</i></b> We demonstrated that a variant in the promoter region of <i>HSD17B5</i> related to fetal androgen synthesis influences the genital phenotype in 21-OHD females." @default.
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• W2336216744 date "2016-01-01" @default.
• W2336216744 modified "2023-10-11" @default.
• W2336216744 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" @default.
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• W2336216744 doi "https://doi.org/10.1159/000445684" @default.
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