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

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dc.contributor.advisorSpitaels, Ariane
dc.contributor.advisorCarrihill Michelle
dc.contributor.authorManu, Ewuraa
dc.date.accessioned2025-03-05T12:15:45Z
dc.date.available2025-03-05T12:15:45Z
dc.date.issued2024
dc.date.updated2025-03-05T12:00:43Z
dc.description.abstractBackground: 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.
dc.identifier.apacitationManu, E. (2024). <i>Clinical Characterization of Children and Adolescents with Disorders of Sex Development Atending a Tertiary Centre in the Western Cape, South Africa</i>. (). University of Cape Town ,Faculty of Health Sciences ,Department of Paediatrics and Child Health. Retrieved from http://hdl.handle.net/11427/41114en_ZA
dc.identifier.chicagocitationManu, Ewuraa. <i>"Clinical Characterization of Children and Adolescents with Disorders of Sex Development Atending a Tertiary Centre in the Western Cape, South Africa."</i> ., University of Cape Town ,Faculty of Health Sciences ,Department of Paediatrics and Child Health, 2024. http://hdl.handle.net/11427/41114en_ZA
dc.identifier.citationManu, E. 2024. Clinical Characterization of Children and Adolescents with Disorders of Sex Development Atending a Tertiary Centre in the Western Cape, South Africa. . University of Cape Town ,Faculty of Health Sciences ,Department of Paediatrics and Child Health. http://hdl.handle.net/11427/41114en_ZA
dc.identifier.ris TY - Thesis / Dissertation AU - Manu, Ewuraa AB - 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. DA - 2024 DB - OpenUCT DP - University of Cape Town KW - Paediatrics and Child Health LK - https://open.uct.ac.za PB - University of Cape Town PY - 2024 T1 - Clinical Characterization of Children and Adolescents with Disorders of Sex Development Atending a Tertiary Centre in the Western Cape, South Africa TI - Clinical Characterization of Children and Adolescents with Disorders of Sex Development Atending a Tertiary Centre in the Western Cape, South Africa UR - http://hdl.handle.net/11427/41114 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/41114
dc.identifier.vancouvercitationManu E. Clinical Characterization of Children and Adolescents with Disorders of Sex Development Atending a Tertiary Centre in the Western Cape, South Africa. []. University of Cape Town ,Faculty of Health Sciences ,Department of Paediatrics and Child Health, 2024 [cited yyyy month dd]. Available from: http://hdl.handle.net/11427/41114en_ZA
dc.language.rfc3066Eng
dc.publisher.departmentDepartment of Paediatrics and Child Health
dc.publisher.facultyFaculty of Health Sciences
dc.publisher.institutionUniversity of Cape Town
dc.subjectPaediatrics and Child Health
dc.titleClinical Characterization of Children and Adolescents with Disorders of Sex Development Atending a Tertiary Centre in the Western Cape, South Africa
dc.typeThesis / Dissertation
dc.type.qualificationlevelMasters
dc.type.qualificationlevelMasters
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