Elim Man, Imran Mushtaq, Angela Barnicoat, Polly Carmichael, Claire R Hughes, Kate Davies, Helen Aitkenhead, Rakesh Amin, Charles R Buchanan, Abraham Cherian, Nikola J Costa, Sarah M Creighton, Patrick G Duffy, Emma Hewson, Peter C Hindmarsh, Louisa C Monzani, Catherine J Peters, Philip G Ransley, Naima Smeulders, Helen A Spoudeas, Dan Wood, Ieuan A Hughes, Harshini Katugampola, Caroline E Brain, Mehul T Dattani, John C Achermann
Journal of the Endocrine Society, Volume 7, Issue 1, January 2023, bvac165
https://doi.org/10.1210/jendso/bvac165
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.
We aimed to better understand the presentation and prevalence of pediatric DSD.
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.
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.
DSD represent a diverse range of conditions that can present at different ages. Pathways for expert diagnosis and management are important to optimize care.
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