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A Single-Center, Observational Study of 607 Children and Young People Presenting With Differences of Sex Development
Elim Man1,2,3, Imran Mushtaq4, Angela Barnicoat5
1Genetics & Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.
Insights
Pediatric differences of sex development (DSD) are diverse, with 46,XY DSD being most common. Early diagnosis and expert management are crucial for optimizing care in children with DSD.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Developmental Biology
Background:
- Differences of Sex Development (DSD) encompass a spectrum of conditions requiring timely diagnosis and family support.
- Effective management plans are essential for individuals with DSD.
Purpose of the Study:
- To investigate the presentation and prevalence of pediatric DSD.
- To analyze diagnostic patterns and outcomes in children and young people with DSD.
Main Methods:
- Retrospective observational cohort study of 607 children and young people (CYP) over 25 years (1995-2019).
- Data collected on diagnosis, sex assignment, presentation age/mode, phenotypic features, and mortality.
- Analysis of approximate point prevalence for DSD referrals.
Main Results:
- 46,XY DSD was the most frequent category (61.1%), followed by 46,XX DSD (27.7%) and sex chromosome DSD (11.2%).
- Most neonates (80.1%) presented with atypical genitalia, adrenal insufficiency, or related issues.
- Higher mortality was observed in 46,XY DSD, often linked to associated conditions. Neonatal referral prevalence was 1 in 6347 births.
Conclusions:
- DSD conditions are varied and can manifest at different ages.
- Establishing clear diagnostic and management pathways is vital for improving care for children with DSD.
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.
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