A Single-Center, Observational Study of 607 Children and Young People Presenting With Differences of Sex Development (DSD).

Autor:	Man E; Genetics & Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; Department of Endocrinology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK.; Department of Paediatrics & Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong SAR, People's Republic of China., Mushtaq I; Department of Urology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK., Barnicoat A; Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., Carmichael P; Department of Clinical Psychology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK.; Gender Identity Development Service, Tavistock and Portman NHS Foundation Trust, London NW3 5BA, UK., Hughes CR; Department of Endocrinology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK.; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK., Davies K; Department of Endocrinology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK.; Institute of Health and Social Care, London South Bank University, London SE1 0AA, UK., Aitkenhead H; Department of Chemical Pathology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., Amin R; Department of Endocrinology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., Buchanan CR; Department of Child Health, King's College Hospital NHS Foundation Trust, London SE5 9RS, UK., Cherian A; Department of Urology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK., Costa NJ; Department of Chemical Pathology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., Creighton SM; Institute for Women's Health, University College London Hospitals NHS Foundation Trust, London NW1 2BU, UK., Duffy PG; Department of Urology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK., Hewson E; Department of Clinical Psychology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., Hindmarsh PC; Department of Endocrinology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK.; Department of Paediatrics, University College London Hospitals NHS Foundation Trust, London NW1 2BU, UK., Monzani LC; Department of Clinical Psychology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., Peters CJ; Department of Endocrinology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., Ransley PG; Department of Urology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK., Smeulders N; Department of Urology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK., Spoudeas HA; Genetics & Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; Department of Endocrinology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., Wood D; Department of Urology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.; Department of Urology, University College London Hospitals NHS Foundation Trust, London NW1 2BU, UK.; Department of Urology, Children's Hospital Colorado and University of Colorado, Aurora, Colorado 80045, USA., Hughes IA; Department of Paediatrics, University of Cambridge, Cambridge CB2 0QQ, UK., Katugampola H; Department of Endocrinology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., Brain CE; Department of Endocrinology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., Dattani MT; Genetics & Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; Department of Endocrinology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., Achermann JC; Genetics & Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; Department of Endocrinology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK.
Jazyk:	angličtina
Zdroj:	Journal of the Endocrine Society [J Endocr Soc] 2022 Oct 28; Vol. 7 (1), pp. bvac165. Date of Electronic Publication: 2022 Oct 28 (Print Publication: 2022).
DOI:	10.1210/jendso/bvac165
Abstrakt:	Context: 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. Objective: We aimed to better understand the presentation and prevalence of pediatric DSD. Methods: 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. Results: 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. Conclusion: DSD represent a diverse range of conditions that can present at different ages. Pathways for expert diagnosis and management are important to optimize care. (© The Author(s) 2022. Published by Oxford University Press on behalf of the Endocrine Society.)
Databáze:	MEDLINE
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