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A deficiency in steroid 5<jats:italic>\u03b1<\/jats:italic>\u2010reductase type 2 is an autosomal recessive disorder. Affected individuals manifested ambiguous genitalia, which is caused by decreased dihydrotestosterone (DHT) synthesis in the fetus. <jats:italic>Methods<\/jats:italic>. We analyzed 25 patients with 5<jats:italic>\u03b1<\/jats:italic>\u2010reductase 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. <jats:italic>Results<\/jats:italic>. Eighteen mutations were identified in these patients. p.Gly203Ser and p.Gln6\u2217 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\u2010nucleotide polymorphisms (SNPs) near the p.Gln6\u2217 mutation were chosen for haplotype analysis. Three haplotypes were observed in 6 patients who had the p.Gln6\u2217 mutation (12 alleles). <jats:italic>Conclusion<\/jats:italic>. We analyzed mutations of the <jats:italic>SRD5A2<\/jats:italic> gene in Chinese patients with 5<jats:italic>\u03b1<\/jats:italic>\u2010reductase deficiency. Although hotspot mutations exist, no founder effect of prevalent mutations in the <jats:italic>SRD5A2<\/jats:italic> gene was detected in the Chinese population.<\/jats:p>","DOI":"10.1155\/2020\/1789514","type":"journal-article","created":{"date-parts":[[2020,6,9]],"date-time":"2020-06-09T23:30:42Z","timestamp":1591745442000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Genetic Analysis of 25 Patients with 5<i>\u03b1<\/i>\u2010Reductase Deficiency in Chinese Population"],"prefix":"10.1155","volume":"2020","author":[{"given":"Bing","family":"Han","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tong","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen-jiao","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huai-dong","family":"Song","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1760-1614","authenticated-orcid":false,"given":"Haijun","family":"Yao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7623-432X","authenticated-orcid":false,"given":"Jie","family":"Qiao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,6,9]]},"reference":[{"key":"e_1_2_13_1_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115954"},{"key":"e_1_2_13_2_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI116665"},{"key":"e_1_2_13_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-4731(79)90110-9"},{"key":"e_1_2_13_4_2","first-page":"91","article-title":"Steroid 5alpha-reductase deficiency in man. 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