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: Yasmeen Ganie, Colleen Aldous, Yusentha Balakrishna, Rinus Wiersma
• Journal: Journal of pediatric endocrinology & metabolism : JPEM (J Pediatr Endocrinol Metab) Vol. 30 Issue 1 Pg. 11-18 (Jan 01 2017) ISSN: 2191-0251 [Electronic] Germany
• PMID: 27754965 (Publication Type: Journal Article)

Topics

• 46, XX Disorders of Sex Development (etiology, pathology)
• Child
• Child, Preschool
• Disorder of Sex Development, 46,XY (etiology, pathology)
• Disorders of Sex Development (complications, genetics)
• Female
• Follow-Up Studies
• Humans
• Infant
• Infant, Newborn
• Male
• Prognosis
• Retrospective Studies
• South Africa
• Tertiary Care Centers