{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:50:19Z","timestamp":1745470219205,"version":"3.40.4"},"reference-count":8,"publisher":"S. Karger AG","issue":"Suppl. 1","license":[{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2009]]},"abstract":"<jats:p>&lt;i&gt;Background:&lt;\/i&gt; Late presentation of congenital adrenal hyperplasia as a 46,XX disorder of sex development due to 11-\u03b2 hydroxylase deficiency is uncommon. Such a case raises issues regarding appropriate investigation and management. &lt;i&gt;Case History:&lt;\/i&gt; A 5-year-old boy who had recently moved to the United Kingdom presented at the endocrinology clinic with recurrent abdominal pain. He was normotensive and had a history of ambiguous genitalia since birth, a relatively small penis, bilateral cryptorchidism and pubic hair. A systematic workup revealed low anti-Mullerian hormone levels for age and sex and elevated serum testosterone, androstenedione and deoxycortisol levels. A urinary steroid profile confirmed a diagnosis of 11-\u03b2 hydroxylase deficiency. The child\u2019s karyotype was 46,XX. Further genetic analysis revealed a compound heterozygote mutation in the &lt;i&gt;CYP11B1&lt;\/i&gt; gene. Ultrasound scan showed evidence of Mullerian structures and accumulation of menstrual blood in the vagina (haematocolpos). Following discussion at a multidisciplinary clinic, the patient did not undergo sex reassignment and subsequently proceeded to surgery for removal of the Mullerian structures. &lt;i&gt;Conclusions:&lt;\/i&gt; This case emphasizes the importance of a systematic approach to investigation of older children presenting with apparent male undermasculinisation. It also raises important issues about gender reassignment in mid-childhood and the indications for removal of Mullerian organs in a 46,XX boy.<\/jats:p>","DOI":"10.1159\/000178046","type":"journal-article","created":{"date-parts":[[2009,1,20]],"date-time":"2009-01-20T08:53:22Z","timestamp":1232441602000},"page":"87-92","source":"Crossref","is-referenced-by-count":1,"title":["A 5-Year-Old Boy with Cryptorchidism and Pubic Hair: Investigation and Management of Apparent Male Disorders of Sex Development in Mid-Childhood"],"prefix":"10.1159","volume":"71","author":[{"given":"L.S.","family":"Keir","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"O\u2019Toole","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.L.","family":"Robertson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.M.","family":"Wallace","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.F.","family":"Ahmed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2009,1,21]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1136%2Fadc.2005.081216"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2265.2007.02968.x"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1136%2Fadc.2006.098319"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1136%2Fadc.2003.034017"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.2002-020782"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1515%2FJPEM.2005.18.6.549"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1007%2Fs10508-005-4338-5"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.0300-0664.2001.01463.x"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/178046","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/178046","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T23:56:07Z","timestamp":1745452567000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000178046"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009]]},"references-count":8,"journal-issue":{"issue":"Suppl. 1","published-online":{"date-parts":[[2009,1,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000178046","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"type":"print","value":"1663-2818"},{"type":"electronic","value":"1663-2826"}],"subject":[],"published":{"date-parts":[[2009]]}}}