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Journal of Pediatric Endocrinology and Metabolism

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Volume 30, Issue 1


Disorders of sex development in children in KwaZulu-Natal Durban South Africa: 20-year experience in a tertiary centre

Yasmeen GanieORCID iD: http://orcid.org/0000-0001-8748-4471
  • Corresponding author
  • Department of Paediatrics and Child Health, Nelson R Mandela School of Medicine, Faculty of Health Sciences, University of KwaZulu-Natal Durban, South Africa
  • Division of Paediatric Endocrinology, Inkosi Albert Luthuli Central Hospital, KwaZulu-Natal Durban, Room 475 Umbilo Road, Congella 4013, South Africa, Phone: +27 31 240 1161/+27 82 4923786
  • orcid.org/0000-0001-8748-4471
  • Email
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Colleen Aldous
  • Department of Internal Medicine, Nelson R Mandela School of Medicine, Faculty of Health Sciences, University of KwaZulu-Natal Durban, South Africa
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Yusentha Balakrishna / Rinus Wiersma
  • Department of Paediatric Surgery, Inkosi Albert Luthuli Central Hospital, KwaZulu-Natal Durban; Department of Paediatric surgery, Nelson R Mandela School of Medicine, Faculty of Health Sciences, University of KwaZulu-Natal Durban, South Africa
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2016-10-18 | DOI: https://doi.org/10.1515/jpem-2016-0152



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.


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.


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).


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.

Keywords: 46 XX disorder of sex development; 46 XY disorder of sex development; congenital adrenal hyperplasia; disorder in androgen action or synthesis; disorder of sex development; ovotesticular disorder of sex development; sex chromosome disorder of sex development; Turner syndrome


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About the article

Corresponding author: Dr. Yasmeen Ganie, FCP, Department of Paediatrics and Child Health, Nelson R Mandela School of Medicine, Faculty of Health Sciences, University of KwaZulu-Natal Durban, South Africa

Received: 2016-05-09

Accepted: 2016-08-29

Published Online: 2016-10-18

Published in Print: 2017-01-01

Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

Research funding: None declared.

Employment or leadership: None declared.

Honorarium: None declared.

Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.

Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 30, Issue 1, Pages 11–18, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2016-0152.

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