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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.
Highlights
SRD5A2, the gene encoding steroid 5α-reductase type 2 (5α-RD2), is located on chromosome 2p23 and contains 5 exons [1]. 5α-RD2 contains 254 amino acids and is predominantly expressed in fetal genital skin, male productive tissues, and the prostate [2]
Isolated micropenis or normal female genitalia were found in patients 16 and 22
With a similar gene structure of 5 exons separated by 4 introns, SRD5A2 was found to be predominantly expressed in the male urogenital tract and prostate and in female genital skin, whereas SRD5A1 is predominantly expressed in the ovary, testis, liver, and single-nucleotide polymorphisms (SNPs) Rs12470143 Rs12470196 Rs57971483 Rs4952220 Rs2300697 Rs2300698 Rs2300699 Rs2300700 Rs2300701 Rs522638 Rs523349 Rs632148 Control
Summary
SRD5A2, the gene encoding steroid 5α-reductase type 2 (5α-RD2), is located on chromosome 2p23 and contains 5 exons [1]. 5α-RD2 contains 254 amino acids and is predominantly expressed in fetal genital skin, male productive tissues, and the prostate [2]. 5α-RD2 contains 254 amino acids and is predominantly expressed in fetal genital skin, male productive tissues, and the prostate [2] It converts testosterone (T) to dihydrotestosterone (DHT), which plays a vital role in the development of male external genitalia [3]. 5α-RD2 deficiency is an autosomal recessive disorder caused by mutations in the SRD5A2 gene that impair the conversion of T to DHT. Phenotypes of 5α-RD2 deficiency range from female external genitalia to hypospadias with microphallus to apparently normal male external genitalia After puberty, these patients showed different degrees of virilization and often change their social gender from female to male [9]. We analyzed mutations of the SRD5A2 gene in Chinese patients with 5α-reductase deficiency. No founder effect of prevalent mutations in the SRD5A2 gene was detected in the Chinese population
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