Clinical Characterization of Children and Adolescents with Disorders of Sex Development Atending a Tertiary Centre in the Western Cape, South Africa

Manu, Ewuraa

Clinical Characterization of Children and Adolescents with Disorders of Sex Development Atending a Tertiary Centre in the Western Cape, South Africa

Thesis / Dissertation

2024

Publisher

University of Cape Town

Department

Department of Paediatrics and Child Health

Faculty

Faculty of Health Sciences

Abstract

Background: The objectives of our study were to describe the presentation, classification, and underlying causes, where possible, of Disorders of Sex Development (DSD) cases in a middleincome country in Africa. Methods: This was a retrospective review of all DSD cases referred to a Paediatric Endocrine unit in a tertiary hospital in South Africa from January 2006 to December 2021. The biochemical data were adjusted based on the reference range applicable to the chronological age and chromosomal sex. Results: Of the 139 patients analysed, 70 (50.4%) were 46, XY DSD, 46 (33.1%) were 46, XX DSD, and 23 (16.5%) were sex chromosome DSD. The mean adjusted testosterone (AT) at presentation did not differ between 46, XX DSD [AT: 0.4 (0.10-0.80)] and 46, XY DSD [AT: 0.4(0.10-1.05)]; p=0.76. Male sex was assigned at birth to 78 (67.2%) of both 46, XY, and 46, XX DSD groups. Of these, 73 (93.6 %) were assigned male gender of rearing. A precise diagnosis beyond a defect of androgen synthesis or action could not be made in 48 (68.6%) of the 46, XY DSD group. In contrast, 42 (91.3%) of the 46, XX DSD group had a precise diagnosis; 27 (64.3%) had ovotesticular DSD, 8 (19.0%) congenital adrenal hyperplasia (CAH), 5(12.0%) testicular DSD, and 2(4.7%) gonadal dysgeneses. Conclusion: In our cohort, 46, XY DSD predominated. Concordance between the sex assigned at birth and the gender of rearing after evaluation was 79.1%. The mean AT did not discriminate between various DSD categories. Ovotesticular DSD was the most common diagnosis among 46, XX DSD, and the reasons for this need to be explored.

Keywords

Paediatrics and Child Health

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