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

Author:

Man Elim123ORCID,Mushtaq Imran4ORCID,Barnicoat Angela5,Carmichael Polly67,Hughes Claire R28ORCID,Davies Kate29ORCID,Aitkenhead Helen10ORCID,Amin Rakesh2ORCID,Buchanan Charles R11ORCID,Cherian Abraham4,Costa Nikola J10,Creighton Sarah M12,Duffy Patrick G4,Hewson Emma6,Hindmarsh Peter C213ORCID,Monzani Louisa C6,Peters Catherine J2ORCID,Ransley Philip G4,Smeulders Naima4ORCID,Spoudeas Helen A12ORCID,Wood Dan41415ORCID,Hughes Ieuan A16ORCID,Katugampola Harshini2ORCID,Brain Caroline E2ORCID,Dattani Mehul T12ORCID,Achermann John C12ORCID

Affiliation:

1. Genetics & Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London , London WC1N 1EH , UK

2. Department of Endocrinology, Great Ormond Street Hospital NHS Foundation Trust , London WC1N 3JH , UK

3. Department of Paediatrics & Adolescent Medicine, Hong Kong Children's Hospital , Hong Kong SAR , People’s Republic of China

4. Department of Urology, Great Ormond Street Hospital for Children , London WC1N 3JH , UK

5. Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust , London WC1N 3JH , UK

6. Department of Clinical Psychology, Great Ormond Street Hospital NHS Foundation Trust , London WC1N 3JH , UK

7. Gender Identity Development Service, Tavistock and Portman NHS Foundation Trust , London NW3 5BA , UK

8. Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London , London EC1M 6BQ , UK

9. Institute of Health and Social Care, London South Bank University , London SE1 0AA , UK

10. Department of Chemical Pathology, Great Ormond Street Hospital NHS Foundation Trust , London WC1N 3JH , UK

11. Department of Child Health, King's College Hospital NHS Foundation Trust , London SE5 9RS , UK

12. Institute for Women's Health, University College London Hospitals NHS Foundation Trust , London NW1 2BU , UK

13. Department of Paediatrics, University College London Hospitals NHS Foundation Trust , London NW1 2BU , UK

14. Department of Urology, University College London Hospitals NHS Foundation Trust , London NW1 2BU , UK

15. Department of Urology, Children's Hospital Colorado and University of Colorado , Aurora, Colorado 80045 , USA

16. Department of Paediatrics, University of Cambridge , Cambridge CB2 0QQ , UK

Abstract

Abstract 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.

Funder

Wellcome

Great Ormond Street Hospital Children’s Charity

National Institute for Health Research, Great Ormond Street Hospital Biomedical Research Centre

Publisher

The Endocrine Society

Subject

Endocrinology, Diabetes and Metabolism

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