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

Ganie, Yasmeen; Aldous, Colleen; Balakrishna, Yusentha; Wiersma, R.

doi:10.1515/jpem-2016-0152

Cited by 25 publications

(39 citation statements)

References 18 publications

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“…The frequency of OT DSD is high amongst Black South Africans [2]. Although this finding may appear biased, it is important to note that this cohort was extracted from a database of patients with DSD which reflects the different population groups in South Africa [4]. …”

Section: Discussionmentioning

confidence: 99%

“…Wiersma and Ramdial [3] reported that more than half of the number of patients (51%) presenting to a single paediatric surgical unit in KwaZulu-Natal (KZN) (Durban) had OT DSD. We recently reported that 22% of the patients with DSD attending a tertiary endocrine unit in KZN had OT DSD [4]. This is disproportionately high compared to other centres worldwide [5].…”

Section: Introductionmentioning

confidence: 99%

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The Spectrum of Ovotesticular Disorders of Sex Development in South Africa: A Single-Centre Experience

et al. 2017

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Objective: To describe the clinical characteristics, biochemistry, histopathology, and long-term outcomes in subjects with ovotesticular (OT) disorder of sex development (DSD). Study Design: This is a retrospective subset analysis of 64 cases of histologically confirmed OT DSD. Results: All subjects were South African; 97% (n = 62) were African and 92% (n = 59) were of Zulu ethnicity. The most common karyotype was 46,XX (88%; n = 56), followed by 46,XY (8%), 46,XY/45,X (3%), and 46,XX/46,XY (1%). The median age at presentation was 7 months (0.5 months to 5.1 years). Sixty-one of the subjects (95%) presented with DSD. The ovotestis was the most frequent gonad (56%), followed by the ovary (23%) and the testis (16%). Testes were more commonly located on the right and ovaries on the left (p < 0.0001). The male gender was the predominant sex of rearing in two-thirds of the subjects. Gender dysphoria was noted in 8 subjects (11%) at a median of 6.4 (4.3–9.3) years. Long-term follow-up (n = 14) revealed spontaneous puberty in 5 subjects, gender dysphoria in 2 subjects, and neuropsychiatric disorders in 4 subjects. Conclusion: OT DSD is an important differential diagnosis in Black South Africans with 46,XX DSD.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

The Spectrum of Ovotesticular Disorders of Sex Development in South Africa: A Single-Centre Experience

et al. 2017

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“…We recently reported that CAH was the third most common diagnosis in children with DSD attending a specialised endocrine unit. [4] In 2008, Osifo and Nwashilliv [5] retrospectively reported on 27 children with CAH in Nigeria, highlighting the challenges of managing these children in a developing country. Tayel et al [6] reported a high prevalence of CAH in Alexandria, Egypt, justifying the need for a newborn screening programme.…”

Section: Researchmentioning

confidence: 99%

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in South Africa

et al. 2018

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“…Mortality and morbidity is likely underreported because clinical features of pediatric endocrine diseases and of diabetes may mimic infections and other common medical conditions, causing misdiagnosis [39, 40]. In addition, a complete neonatal examination is not routinely performed in many settings, preventing the diagnosis of congenital conditions such as disorders of sexual development [13, 41]. It is expected that the increase in capacity in pediatric endocrinology will lead to a better understanding of the prevalence and characteristics of pediatric endocrine diseases and diabetes which, in turn, will drive advocacy for essential medicines that are presently not available to the patient.…”

Section: Discussionmentioning

confidence: 99%

Insights from the WHO and National Lists of Essential Medicines: Focus on Pediatric Diabetes Care in Africa

Rowlands

Ameyaw²,

Rutagarama

et al. 2018

Horm Res Paediatr

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Background: Access to essential medicines in pediatric endocrinology and diabetes is limited in resource-limited countries. The World Health Organization (WHO) maintains two non-binding lists of essential medicines (EMLs) which are often used as a template for developing national EMLs. Methods: We compared a previously published master list of medicines for pediatric endocrinology and diabetes with the WHO EMLs and national EMLs for countries within the WHO African region. To better understand actual access to medicines by patients, we focused on diabetes and surveyed pediatric endocrinologists from 5 countries and assessed availability and true cost for insulin and glucagon. Results: Most medicines that are essential in pediatric endocrinology and diabetes were included in the national EMLs. However, essential medicines, such as fludrocortisone, were present in less than 30% of the national EMLs despite being recommended by the WHO. Pediatric endocrinologists from the 5 focus countries reported significant variation in terms of availability and public access to insulin, as well as differences between urban and rural areas. Except for Botswana, glucagon was rarely available. There was no significant relationship between Gross National Income and the number of medicines included in the national EMLs. Conclusions: Governments in resource-limited countries could take further steps to improve EMLs and access to medicines such as improved collaboration between health authorities, the pharmaceutical industry, patient groups, health professionals, and capacity-building programs such as Paediatric Endocrinology Training Centres for Africa.

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

Abstract: 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.

Cited by 25 publications

References 18 publications

The Spectrum of Ovotesticular Disorders of Sex Development in South Africa: A Single-Centre Experience

The Spectrum of Ovotesticular Disorders of Sex Development in South Africa: A Single-Centre Experience

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in South Africa

Insights from the WHO and National Lists of Essential Medicines: Focus on Pediatric Diabetes Care in Africa

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