{"id":{"repo_id":"cape-town","oai_identifier":"oai:open.uct.ac.za:11427/41114"},"canonical_url":"https://search.dev.ndltd.org/etd/cape-town/oai:open.uct.ac.za:11427/41114","repository":{"repo_id":"cape-town","name":"University of Cape Town","base_url":"https://open.uct.ac.za/oai/request"},"display":{"title":"Clinical Characterization of Children and Adolescents with Disorders of Sex Development Atending a Tertiary Centre in the Western Cape, South Africa","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.","abstract_html":"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.","abstract_has_math":false,"creators":["Manu, Ewuraa"],"institution":"Department of Paediatrics and Child Health","degree_name":null,"degree_level":null,"degree_discipline":null,"degree_department":null,"school":null,"contributors":[],"advisors":["Spitaels, Ariane","Carrihill Michelle"],"committee_chairs":[],"committee_members":[],"year":2024,"date_issued":"2024","date_published":"2024","updated_at":"2026-07-22T22:23:07Z","subjects":["Paediatrics and Child Health"],"languages":[],"rights":[],"rights_urls":[],"identifier_entries":[]},"links":{"outbound_url":"http://hdl.handle.net/11427/41114","outbound_label":"Handle","outbound_source":"dc:identifier.uri"},"metadata_groups":[{"id":"people","label":"People","entries":[{"key":"dc:contributor.advisor","label":"Advisor","values":["Spitaels, Ariane","Carrihill Michelle"]},{"key":"dc:creator","label":"Author","values":["Manu, Ewuraa"]}]},{"id":"academic_context","label":"Academic Context","entries":[{"key":"dc:date.accessioned","label":"Dc Date Accessioned","values":["2025-03-05T12:15:45Z"]},{"key":"dc:date.available","label":"Dc Date Available","values":["2025-03-05T12:15:45Z"]},{"key":"dc:date.issued","label":"Date","values":["2024"]},{"key":"dc:publisher.department","label":"Dc Publisher Department","values":["Department of Paediatrics and Child Health"]},{"key":"dc:publisher.institution","label":"Dc Publisher Institution","values":["University of Cape Town"]},{"key":"dc:type","label":"Dc Type","values":["Thesis / Dissertation"]},{"key":"dc:type.qualificationlevel","label":"Dc Type Qualificationlevel","values":["Masters"]}]},{"id":"subjects_keywords","label":"Subjects and Keywords","entries":[{"key":"dc:subject","label":"Dc Subject","values":["Paediatrics and Child Health"]}]},{"id":"identifiers","label":"Identifiers","entries":[{"key":"dc:identifier.uri","label":"Identifier URI","values":["http://hdl.handle.net/11427/41114"]}]},{"id":"additional","label":"Additional Metadata","entries":[{"key":"dc:description.abstract","label":"Abstract","values":["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."]},{"key":"dc:title","label":"Title","values":["Clinical Characterization of Children and Adolescents with Disorders of Sex Development Atending a Tertiary Centre in the Western Cape, South Africa"]}]}],"canonical_facts":{"dc:contributor.advisor":["Spitaels, Ariane","Carrihill Michelle"],"dc:creator":["Manu, Ewuraa"],"dc:date.accessioned":["2025-03-05T12:15:45Z"],"dc:date.available":["2025-03-05T12:15:45Z"],"dc:date.issued":["2024"],"dc:description.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."],"dc:identifier.uri":["http://hdl.handle.net/11427/41114"],"dc:publisher.department":["Department of Paediatrics and Child Health"],"dc:publisher.institution":["University of Cape Town"],"dc:subject":["Paediatrics and Child Health"],"dc:title":["Clinical Characterization of Children and Adolescents with Disorders of Sex Development Atending a Tertiary Centre in the Western Cape, South Africa"],"dc:type":["Thesis / Dissertation"],"dc:type.qualificationlevel":["Masters"]},"updated_at":"2026-07-22T22:23:07Z"}