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Clinical Characterization of Children and Adolescents with Disorders of Sex Development Atending a Tertiary Centre in the Western Cape, South Africa
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 Endocr...
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| Format: | Thesis |
| Language: | Eng |
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Department of Paediatrics and Child Health
2025
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| _version_ | 1867613255134871552 |
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| access_status_str | Open Access |
| author | Manu, Ewuraa |
| author2 | Spitaels, Ariane |
| author_browse | Manu, Ewuraa Spitaels, Ariane |
| author_facet | Spitaels, Ariane Manu, Ewuraa |
| author_sort | Manu, Ewuraa |
| collection | Thesis |
| description | 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. |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/41114 |
| institution | University of Cape Town (South Africa) |
| language | Eng |
| last_indexed | 2026-06-10T12:33:13.838Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UCTD — University of Cape Town Open Access Repository |
| publishDate | 2025 |
| publishDateRange | 2025 |
| publishDateSort | 2025 |
| publisher | Department of Paediatrics and Child Health |
| publisherStr | Department of Paediatrics and Child Health |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/41114 Clinical Characterization of Children and Adolescents with Disorders of Sex Development Atending a Tertiary Centre in the Western Cape, South Africa Manu, Ewuraa Spitaels, Ariane Carrihill Michelle Paediatrics and Child Health 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. 2025-03-05T12:15:45Z 2025-03-05T12:15:45Z 2024 2025-03-05T12:00:43Z Thesis / Dissertation Masters Masters http://hdl.handle.net/11427/41114 Eng application/pdf Department of Paediatrics and Child Health Faculty of Health Sciences University of Cape Town |
| spellingShingle | Paediatrics and Child Health Manu, Ewuraa Clinical Characterization of Children and Adolescents with Disorders of Sex Development Atending a Tertiary Centre in the Western Cape, South Africa |
| thesis_degree_str | Master's |
| title | Clinical Characterization of Children and Adolescents with Disorders of Sex Development Atending a Tertiary Centre in the Western Cape, South Africa |
| title_full | Clinical Characterization of Children and Adolescents with Disorders of Sex Development Atending a Tertiary Centre in the Western Cape, South Africa |
| title_fullStr | Clinical Characterization of Children and Adolescents with Disorders of Sex Development Atending a Tertiary Centre in the Western Cape, South Africa |
| title_full_unstemmed | Clinical Characterization of Children and Adolescents with Disorders of Sex Development Atending a Tertiary Centre in the Western Cape, South Africa |
| title_short | Clinical Characterization of Children and Adolescents with Disorders of Sex Development Atending a Tertiary Centre in the Western Cape, South Africa |
| title_sort | clinical characterization of children and adolescents with disorders of sex development atending a tertiary centre in the western cape south africa |
| topic | Paediatrics and Child Health |
| url | http://hdl.handle.net/11427/41114 |
| work_keys_str_mv | AT manuewuraa clinicalcharacterizationofchildrenandadolescentswithdisordersofsexdevelopmentatendingatertiarycentreinthewesterncapesouthafrica |