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- Title
A Single-Center, Observational Study of 607 Children and Young People Presenting With Differences of Sex Development (DSD).
- Authors
Man, Elim; Mushtaq, Imran; Barnicoat, Angela; Carmichael, Polly; Hughes, Claire R; Davies, Kate; Aitkenhead, Helen; Amin, Rakesh; Buchanan, Charles R; Cherian, Abraham; Costa, Nikola J; Creighton, Sarah M; Duffy, Patrick G; Hewson, Emma; Hindmarsh, Peter C; Monzani, Louisa C; Peters, Catherine J; Ransley, Philip G; Smeulders, Naima; Spoudeas, Helen A
- 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.
- Subjects
YOUNG adults; MEDICAL personnel; ADRENOGENITAL syndrome; SEX chromosomes; SCIENTIFIC observation; INGUINAL hernia
- Publication
Journal of the Endocrine Society, 2023, Vol 7, Issue 1, p1
- ISSN
2472-1972
- Publication type
Article
- DOI
10.1210/jendso/bvac165