Genetic Analysis of 25 Patients with 5α-Reductase Deficiency in Chinese Population.

Abstract:

Background:A deficiency in steroid 5α-reductase type 2 is an autosomal recessive disorder. Affected individuals manifested ambiguous genitalia, which is caused by decreased dihydrotestosterone (DHT) synthesis in the fetus. Methods:We analyzed 25 patients with 5α-reductase deficiency in China. Seventeen of the 25 patients (68%) were initially raised as females. Sixteen patients changed their social gender from female to male after puberty. Results:Eighteen mutations were identified in these patients. p.Gly203Ser and p.Gln6∗ were found to be the most prevalent mutations. On the basis of the genotype of these patients, we divided them into different groups. There was no significant difference in hormone levels and external masculinization score (EMS) in patients with or without these prevalent mutations. Twelve common single-nucleotide polymorphisms (SNPs) near the p.Gln6∗ mutation were chosen for haplotype analysis. Three haplotypes were observed in 6 patients who had the p.Gln6∗ mutation (12 alleles). Conclusion:We analyzed mutations of the SRD5A2 gene in Chinese patients with 5α-reductase deficiency. Although hotspot mutations exist, no founder effect of prevalent mutations in the SRD5A2 gene was detected in the Chinese population.

journal_name

Biomed Res Int

authors

Han B,Cheng T,Zhu H,Yu J,Zhu WJ,Song HD,Yao H,Qiao J

doi

10.1155/2020/1789514

subject

Has Abstract

pub_date

2020-06-09 00:00:00

pages

1789514

eissn

2314-6133

issn

2314-6141

journal_volume

2020

pub_type

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