{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T12:05:43Z","timestamp":1790597143992,"version":"4.1.0"},"reference-count":40,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,5,7]],"date-time":"2015-05-07T00:00:00Z","timestamp":1430956800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Guangzhou Branch Bureau of Science and Technology Plan Project","award":["2010J-E231-1"],"award-info":[{"award-number":["2010J-E231-1"]}]},{"name":"National \u201cTwelfth Five-Year\u201d Plan for Science and Technology Support","award":["2012BAI09B04"],"award-info":[{"award-number":["2012BAI09B04"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2015,10]]},"abstract":"Summary<\/jats:title>Context<\/jats:title>Affected by steroid 5\u03b1\u2010reductase type 2 deficiency (5\u03b1\u2010RD<\/jats:styled-content>2), 46, XY<\/jats:styled-content> individuals present divergent phenotypes characterized by undervirilization of male external genitalia. To identify the disorder, mutational analysis of 5\u03b1\u2010reductase type 2 gene (SRD<\/jats:styled-content>5A2) is a reliable approach. The genotype\u2013phenotype relationship has not been elucidated.<\/jats:p><\/jats:sec>Objective<\/jats:title>To improve the diagnosis and expand the knowledge of the disease, we collected and analysed relevant data of clinical diagnosis, biological investigation and molecular determination in 45 children with the SRD<\/jats:styled-content>5A<\/jats:styled-content>2 gene mutations from S<\/jats:styled-content>outh C<\/jats:styled-content>hina in our centre.<\/jats:p><\/jats:sec>Subjects and methods<\/jats:title>We studied a cohort of 45 C<\/jats:styled-content>hinese children with SRD<\/jats:styled-content>5A<\/jats:styled-content>2 gene mutations.<\/jats:p><\/jats:sec>Results<\/jats:title>Isolated microphallus (35\u00b76%) and microphallus associated with various degrees of hypospadias (55\u00b76%) were frequent phenotype. Female external genitalia with clitoromegaly (8\u00b79%) were rare. 16 of 18 (88\u00b79%) cases had hCG<\/jats:styled-content>\u2010stimulated T<\/jats:styled-content>\/DHT<\/jats:styled-content> ratio above 10. In 45 patients, we identified 15 different mutations. Five have never been described: p.H<\/jats:styled-content>is90T<\/jats:styled-content>hrfsX<\/jats:styled-content>31, p.G<\/jats:styled-content>ly21A<\/jats:styled-content>rg, p.G<\/jats:styled-content>ly149A<\/jats:styled-content>sp, p.A<\/jats:styled-content>rg145L<\/jats:styled-content>eu and p.G<\/jats:styled-content>ly66A<\/jats:styled-content>rg. The p.A<\/jats:styled-content>rg227G<\/jats:styled-content>ln mutation was detected in 41 (91\u00b71%) patients. The p.L<\/jats:styled-content>eu89V<\/jats:styled-content>al polymorphism was found in 38 (84\u00b74%) patients. Homozygous mutations were presented in 16 (35\u00b76%) patients, compound heterozygous mutations in 20 (44\u00b74%) patients, compound heterozygous mutations alone with the p.L<\/jats:styled-content>eu89V<\/jats:styled-content>al polymorphism in nine (20\u00b70%) patients. Exons 1 and 4 were most affected, and the number of mutant alleles per exon was 78\u00b71% and 12\u00b72%, respectively.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>The study demonstrated a wide spectrum of phenotypes, biological profiles and genotypes in the children with 5\u03b1\u2010RD<\/jats:styled-content>2 from S<\/jats:styled-content>outh C<\/jats:styled-content>hina. The heterozygous mutation p.A<\/jats:styled-content>rg227G<\/jats:styled-content>ln is presumably a hot spot mutation and suggests a founder effect in the population of S<\/jats:styled-content>outh C<\/jats:styled-content>hina that may explain a moderate phenotype among our patients. Our report provides new insights into the molecular mechanism of 5\u03b1\u2010RD<\/jats:styled-content>2 and help to the diagnosis and treatment of this disease.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.12799","type":"journal-article","created":{"date-parts":[[2015,4,21]],"date-time":"2015-04-21T05:59:20Z","timestamp":1429595960000},"page":"518-526","source":"Crossref","is-referenced-by-count":36,"title":["Phenotype and molecular characteristics in 45 Chinese children with 5\u03b1\u2010reductase type 2 deficiency from South China"],"prefix":"10.1111","volume":"83","author":[{"given":"Jing","family":"Cheng","sequence":"first","affiliation":[{"name":"Department of Genetics and Endocrinology Guangzhou Women and Children's Medical Center Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruizhu","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Genetics and Endocrinology Guangzhou Women and Children's Medical Center Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Genetics and Endocrinology Guangzhou Women and Children's Medical Center Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guochang","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Guangzhou Women and Children's Medical Center Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huiying","family":"Sheng","sequence":"additional","affiliation":[{"name":"Department of Genetics and Endocrinology Guangzhou Women and Children's Medical Center Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiuzhen","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Genetics and Endocrinology Guangzhou Women and Children's Medical Center Guangzhou 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