{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T13:07:34Z","timestamp":1787663254328,"version":"build-2736575974"},"reference-count":50,"publisher":"The Endocrine Society","issue":"1","license":[{"start":{"date-parts":[[2022,10,28]],"date-time":"2022-10-28T00:00:00Z","timestamp":1666915200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Wellcome","award":["209328\/Z\/17\/Z to J.C.A."],"award-info":[{"award-number":["209328\/Z\/17\/Z to J.C.A."]}]},{"name":"Great Ormond Street Hospital Children\u2019s Charity","award":["V2518"],"award-info":[{"award-number":["V2518"]}]},{"name":"National Institute for Health Research, Great Ormond Street Hospital Biomedical Research Centre","award":["IS-BRC-1215-20012"],"award-info":[{"award-number":["IS-BRC-1215-20012"]}]},{"name":"Great Ormond Street Hospital Children\u2019s Charity"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,11,17]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Differences of sex development (DSD) represent a wide range of conditions presenting at different ages to various health professionals. Establishing a diagnosis, supporting the family, and developing a management plan are important.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>We aimed to better understand the presentation and prevalence of pediatric DSD.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>A retrospective, observational cohort study was undertaken in a single tertiary pediatric center of all children and young people (CYP) referred to a DSD multidisciplinary team over 25 years (1995-2019). In total, 607 CYP (520 regional referrals) were included. Data were analyzed for diagnosis, sex-assignment, age and mode of presentation, additional phenotypic features, mortality, and approximate point prevalence.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Among the 3 major DSD categories, sex chromosome DSD was diagnosed in 11.2% (68\/607) (most commonly 45,X\/46,XY mosaicism), 46,XY DSD in 61.1% (371\/607) (multiple diagnoses often with associated features), while 46,XX DSD occurred in 27.7% (168\/607) (often 21-hydroxylase deficiency). Most children (80.1%) presented as neonates, usually with atypical genitalia, adrenal insufficiency, undescended testes or hernias. Those presenting later had diverse features. Rarely, the diagnosis was made antenatally (3.8%, n = 23) or following incidental karyotyping\/family history (n = 14). Mortality was surprisingly high in 46,XY children, usually due to complex associated features (46,XY girls, 8.3%; 46,XY boys, 2.7%). The approximate point prevalence of neonatal referrals for investigation of DSD was 1 in 6347 births, and 1 in 5101 overall throughout childhood.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>DSD represent a diverse range of conditions that can present at different ages. Pathways for expert diagnosis and management are important to optimize care.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/jendso\/bvac165","type":"journal-article","created":{"date-parts":[[2022,10,28]],"date-time":"2022-10-28T18:27:32Z","timestamp":1666981652000},"source":"Crossref","is-referenced-by-count":25,"title":["A Single-Center, Observational Study of 607 Children and Young People Presenting With Differences of Sex Development (DSD)"],"prefix":"10.1210","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1549-2450","authenticated-orcid":false,"given":"Elim","family":"Man","sequence":"first","affiliation":[{"name":"Genetics & Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London , London WC1N 1EH , UK"},{"name":"Department of Endocrinology, Great Ormond Street Hospital NHS Foundation Trust , London WC1N 3JH , UK"},{"name":"Department of Paediatrics & Adolescent Medicine, Hong Kong Children's Hospital , Hong Kong SAR , People\u2019s Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7930-0342","authenticated-orcid":false,"given":"Imran","family":"Mushtaq","sequence":"additional","affiliation":[{"name":"Department of Urology, Great Ormond Street Hospital for Children , London WC1N 3JH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Barnicoat","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust , London WC1N 3JH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Polly","family":"Carmichael","sequence":"additional","affiliation":[{"name":"Department of Clinical Psychology, Great Ormond Street Hospital NHS Foundation Trust , London WC1N 3JH , UK"},{"name":"Gender Identity Development Service, Tavistock and Portman NHS Foundation Trust , London NW3 5BA , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1434-1773","authenticated-orcid":false,"given":"Claire R","family":"Hughes","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Great Ormond Street Hospital NHS Foundation Trust , London WC1N 3JH , UK"},{"name":"Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London , London EC1M 6BQ , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4640-533X","authenticated-orcid":false,"given":"Kate","family":"Davies","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Great Ormond Street Hospital NHS Foundation Trust , London WC1N 3JH , UK"},{"name":"Institute of Health and Social Care, London South Bank University , London SE1 0AA , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1787-9467","authenticated-orcid":false,"given":"Helen","family":"Aitkenhead","sequence":"additional","affiliation":[{"name":"Department of Chemical Pathology, Great Ormond Street Hospital NHS Foundation Trust , London WC1N 3JH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0929-8467","authenticated-orcid":false,"given":"Rakesh","family":"Amin","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Great Ormond Street Hospital NHS Foundation Trust , London WC1N 3JH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9885-3698","authenticated-orcid":false,"given":"Charles R","family":"Buchanan","sequence":"additional","affiliation":[{"name":"Department of Child Health, King's College Hospital NHS Foundation Trust , London SE5 9RS , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abraham","family":"Cherian","sequence":"additional","affiliation":[{"name":"Department of Urology, Great Ormond Street Hospital for Children , London WC1N 3JH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikola J","family":"Costa","sequence":"additional","affiliation":[{"name":"Department of Chemical Pathology, Great Ormond Street Hospital NHS Foundation Trust , London WC1N 3JH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah M","family":"Creighton","sequence":"additional","affiliation":[{"name":"Institute for Women's Health, University College London Hospitals NHS Foundation Trust , London NW1 2BU , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick G","family":"Duffy","sequence":"additional","affiliation":[{"name":"Department of Urology, Great Ormond Street Hospital for Children , London WC1N 3JH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Hewson","sequence":"additional","affiliation":[{"name":"Department of Clinical Psychology, Great Ormond Street Hospital NHS Foundation Trust , London WC1N 3JH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2490-8518","authenticated-orcid":false,"given":"Peter C","family":"Hindmarsh","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Great Ormond Street Hospital NHS Foundation Trust , London WC1N 3JH , UK"},{"name":"Department of Paediatrics, University College London Hospitals NHS Foundation Trust , London NW1 2BU , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louisa C","family":"Monzani","sequence":"additional","affiliation":[{"name":"Department of Clinical Psychology, Great Ormond Street Hospital NHS Foundation Trust , London WC1N 3JH , 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Colorado , Aurora, Colorado 80045 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8787-1575","authenticated-orcid":false,"given":"Ieuan A","family":"Hughes","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, University of Cambridge , Cambridge CB2 0QQ , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3426-2511","authenticated-orcid":false,"given":"Harshini","family":"Katugampola","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Great Ormond Street Hospital NHS Foundation Trust , London WC1N 3JH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0630-6532","authenticated-orcid":false,"given":"Caroline E","family":"Brain","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Great Ormond Street Hospital NHS Foundation Trust , London WC1N 3JH , 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