title: Disorders of sex development in children in KwaZulu-Natal Durban South Africa: 20-year experience in a tertiary centre.
abstract: 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.
authors.forename: Yasmeen
authors.identifier: http://orcid.org/0000-0001-8748-4471
authors.initials: Y
authors.lastname: Ganie
authors.forename: Colleen
authors.initials: C
authors.lastname: Aldous
authors.forename: Yusentha
authors.initials: Y
authors.lastname: Balakrishna
authors.forename: Rinus
authors.initials: R
authors.lastname: Wiersma
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000209:etiology* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D058490:Disorder of Sex Development, 46,XY / Q000209:etiology* / Q000473:pathology; D012734:Disorders of Sex Development / Q000150:complications* / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011379:Prognosis; D012189:Retrospective Studies; D013019:South Africa; D062606:Tertiary Care Centers