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摘要
Background: The objective of the study was to describe the prevalence, clinical characteristics and aetiological diagnosis in children with disorders of sex development (DSDs) presenting to a tertiary referral centre. Methods: This is a retrospective review of all cases of DSD referred to the Paediatric Endocrine Unit in Inkosi Albert Luthuli Central Hospital (IALCH) from January 1995 to December 2014. Results: A total of 416 children (15.1%; CI: 13.8%-16.5%) were diagnosed with DSD. The aetiological diagnosis based on the current classification [Lawson Wilkins Paediatric Endocrine Society (LWPES) and European Society for Paediatric Endocrinology (ESPE)] was sex chromosome DSD in 9.5% (n = 33), 46 XX DSD in 33% (n = 114) and 46 XY DSD in 57.5% (n = 199). The most common diagnoses in descending order were a disorder in androgen synthesis and action (not classified) in 53% (n = 182), ovotesticular DSD in 22% (n = 75) and congenital adrenal hyperplasia (CAH) in 10% (n = 36). Overall the median age of presentation was 10 months (IQR: 1 month-4.5 years). There was a significant relationship (p < 0.001) between the age of presentation and aetiological diagnosis. The majority (97%) of African patients had a diagnosis of 46 XX DSD. Prematurity was present in 47% (n = 83) of children with 46 XY DSD (p < 0.001). Conclusions: DSD is not an uncommon diagnosis in African patients in sub-Saharan Africa. The most common aetiological diagnosis is 46 XY DSD in androgen synthesis and action, followed by ovotesticular DSD. CAH is only the third most common disorder.
- 出版日期2017-1
