UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

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

Man, Elim; Mushtaq, Imran; Barnicoat, Angela; Carmichael, Polly; Hughes, Claire R; Davies, Kate; Aitkenhead, Helen; ... Achermann, John C; + view all (2023) A Single-Center, Observational Study of 607 Children and Young People Presenting With Differences of Sex Development (DSD). Journal of the Endocrine Society , 7 (1) , Article bvac165. 10.1210/jendso/bvac165. Green open access

[thumbnail of bvac165 (1).pdf]
Preview
Text
bvac165 (1).pdf

Download (647kB) | Preview

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

Type: Article
Title: A Single-Center, Observational Study of 607 Children and Young People Presenting With Differences of Sex Development (DSD)
Open access status: An open access version is available from UCL Discovery
DOI: 10.1210/jendso/bvac165
Publisher version: https://doi.org/10.1210/jendso/bvac165
Language: English
Additional information: Copyright © The Author(s) 2022. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
Keywords: DSD, sex development, ambiguous genitalia, hypospadias, androgen insensitivity, testicular dysgenesis, congenital adrenal hyperplasia
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10159593
Downloads since deposit
62Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item