A single-center, observational study of 607 children & young people presenting with Differences in Sex Development (DSD)

Journal article


Man, E., Mushtaq, I., Barnicoat, A., Carmichael, P., Hughes, C.R., Davies, K., Aitkenhead, H., Amin, R., Buchanan, C.R., Cherian, A., Costa, N.J., Creighton, S.M., Duffy, P.G., Hewson, E., Hindmarsh, P.C., Monzani, L.C., Peters, C.J., Ransley, P.G., Smeulders. N., Spoudeas, H.A., Wood, D., Hughes, I.A., Katugampola, H., Brain, C.E., Dattani, M.T. and Achermann, J.C. (2022). A single-center, observational study of 607 children & young people presenting with Differences in Sex Development (DSD). Journal of the Endocrine Society. 7 (1), p. bvac165. https://doi.org/10.1210/jendso/bvac165
AuthorsMan, E., Mushtaq, I., Barnicoat, A., Carmichael, P., Hughes, C.R., Davies, K., Aitkenhead, H., Amin, R., Buchanan, C.R., Cherian, A., Costa, N.J., Creighton, S.M., Duffy, P.G., Hewson, E., Hindmarsh, P.C., Monzani, L.C., Peters, C.J., Ransley, P.G., Smeulders. N., Spoudeas, H.A., Wood, D., Hughes, I.A., Katugampola, H., Brain, C.E., Dattani, M.T. and Achermann, J.C.
Abstract

Context
Differences in 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.

Design
A retrospective, observational cohort study was undertaken of all children and young people (CYP) referred to a DSD multi-disciplinary team over 25 years (1995-2019).

Setting
A single tertiary paediatric center.

Participants
In total, 607 CYP (520 regional referrals) were included.

Main Outcome Measures
Data were analyzed for diagnosis, sex-assignment, age and mode of presentation, additional phenotypic features, mortality, and approximate point prevalence.

Results
Amongst the three 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 herniae. 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 6,347 births, and 1 in 5,101 overall throughout childhood.

Conclusions
DSD represent a diverse range of conditions that can present at different ages. Pathways for expert diagnosis and management are important to optimize care.

Year2022
JournalJournal of the Endocrine Society
Journal citation7 (1), p. bvac165
PublisherOxford University Press (OUP)
ISSN2472-1972
Digital Object Identifier (DOI)https://doi.org/10.1210/jendso/bvac165
Web address (URL)https://doi.org/10.1210/jendso/bvac165
Publication dates
Online28 Oct 2022
Publication process dates
Accepted06 Sep 2022
Deposited31 Oct 2022
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Open
Accepted author manuscript
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Controlled
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