| Autor: |
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 |
| Předmět: |
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| Zdroj: |
Journal of the Endocrine Society; Jan2023, Vol. 7 Issue 1, p1-12, 12p |
| Abstrakt: |
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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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