{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T16:33:42Z","timestamp":1787762022118,"version":"build-2784847793"},"reference-count":27,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:p>\n                    5\u03b1-reductase 2 deficiency prevents testosterone from being converted to dihydrotestosterone, which causes abnormal urogenital sinus development. The aim of this study was to analyze the relationship between genotype\u2013phenotype, surgical selections, and postoperative complications of 5\u03b1-reductase 2-deficient patients with hypospadias. We retrospectively evaluated the medical records of patients who were diagnosed with 5\u03b1-reductase 2 deficiency after genetic testing in the Department of Endocrinology and underwent initial hypospadias surgery in the Department of Urology in Beijing Children\u2019s Hospital, Capital Medical University (Beijing, China), from April 2007 to December 2021. A total of 69 patients were included in this study; the mean age at surgery was 34.1 months, and the average follow-up time was 54.1 months. Sixty children were treated with preoperative hormone stimulation (PHS) to promote penile growth. The average penis length and glans width were increased by 1.46 cm and 0.62 cm, respectively. The most frequent mutations were p.R227Q (39.1%, 54\/138), p.Q6* (15.2%, 21\/138), p.G203S (12.3%, 17\/138), and p.R246Q (11.6%, 16\/138). In 64 patients who were followed up, 43 had a one-stage operation and 21 had a staged operation, and there were significant differences in external masculinization score (EMS) (\n                    <jats:italic toggle=\"yes\">P<\/jats:italic>\n                    = 0.008) and the average number of operation required to cure (\n                    <jats:italic toggle=\"yes\">P<\/jats:italic>\n                    &lt; 0.001) between one-stage and staged operations. PHS had a positive effect (\n                    <jats:italic toggle=\"yes\">P<\/jats:italic>\n                    &lt; 0.001) on penile development. The p.R227Q mutation was associated with higher EMS and less severe hypospadias. One-stage surgery can be selected if conditions permit. The growth and development of children are acceptable in the long term, but penis growth remains unsatisfactory. Long-term complications of hypospadias should be considered during puberty.\n                  <\/jats:p>","DOI":"10.4103\/aja202313","type":"journal-article","created":{"date-parts":[[2023,6,9]],"date-time":"2023-06-09T07:00:05Z","timestamp":1686294005000},"page":"731-736","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":3,"title":["Genotype\u2013phenotype correlations, surgical selections, and postoperative complications of 5\u03b1-reductase 2 deficiency in 69 children with hypospadias"],"prefix":"10.4103","volume":"25","author":[{"given":"Xu","family":"Wen","sequence":"first","affiliation":[{"name":"Department of Urology, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health, Beijing 100045, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li-Jun","family":"Fan","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Genetics, Metabolism, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health, Beijing 100045, China"},{"name":"Beijing Key Laboratory for Genetics of Birth Defects, Metabolism, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health, Beijing 100045, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei-Ping","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Urology, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health, Beijing 100045, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Ni","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Head and Neck Surgery, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health, Beijing 100045, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun-Xiu","family":"Gong","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Genetics, Metabolism, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health, Beijing 100045, China"},{"name":"Beijing Key Laboratory for Genetics of Birth Defects, Metabolism, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health, Beijing 100045, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2023,6,9]]},"reference":[{"key":"R1-20240829","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.jpurol.2006.03.004","article-title":"Consensus statement on management of intersex disorders","volume":"2","author":"Hughes","year":"2006","journal-title":"J Pediatr 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