Browsing by Author "Zollner, Ekkehard W."

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    Adrenal rest tumours in congenital adrenal hyperplasia
    (Journal of Endocrinology, Metabolism and Diabetes of South Africa (JEMDSA), 2008-07) Zollner, Ekkehard W.; Pitcher, Richard
    Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is rare, occurring approximately once in every 15 000 live births.1 At birth it is often suspected in girls because of ambiguous genitalia, whereas boys have normal genitalia. The salt-losing type of CAH presents with adrenal crisis a few weeks after birth, while the simple type manifests virilisation and rapid growth years later. The diagnosis is confirmed by an elevated plasma 17-hydroxyprogesterone (17- OHP) level. Additional features in the salt-losing variety are hyponatraemia, hyperkalaemia, metabolic acidosis and an elevated plasma renin level. The gluco- and mineralocorticoid insufficiency is corrected by providing hydrocortisone and fludrocortisone, respectively. It may be necessary to add sodium chloride to infant feeds. Treatment is lifelong. If compliance is poor, excess androgen production, accelerated growth, secondary central precocious puberty and, in boys, adrenal rest tumours can occur, as in the following case.
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    High prevalence of lipoatrophy in pre-pubertal South African children on antiretroviral therapy : a cross-sectional study
    (BioMed Central, 2012-11) Innes, Steve; Cotton, Mark F.; Haubrich, Richard; Conradie, Maria M.; Van Niekerk, Margaret; Edson, Clair; Rabie, Helena; Jain, Sonia; Sun, Xiaoying; Zollner, Ekkehard W.; Hough, Stephen; Browne, Sara H.
    Background: Despite changes in WHO guidelines, stavudine is still used extensively for treatment of pediatric HIV in the developing world. Lipoatrophy in sub-Saharan African children can be stigmatizing and have far-reaching consequences. The severity and extent of lipoatrophy in pre-pubertal children living in sub-Saharan Africa is unknown. Methods: In this cross-sectional study, children who were 3-12 years old, on antiretroviral therapy and pre-pubertal were recruited from a Family HIV Clinic in South Africa. Lipoatrophy was identified and graded by consensus between two HIV pediatricians using a standardized grading scale. A professional dietician performed formal dietary assessment and anthropometric measurements of trunk and limb fat. Previous antiretroviral exposures were recorded. In a Dual-Energy X-ray Absorbtiometry (DXA) substudy body composition was determined in 42 participants. Results: Among 100 recruits, the prevalence of visually obvious lipoatrophy was 36% (95% CI: 27%–45%). Anthropometry and DXA measurements corroborated the clinical diagnosis of lipoatrophy: Both confirmed significant, substantial extremity fat loss in children with visually obvious lipoatrophy, when adjusted for age and sex. Adjusted odds ratio for developing lipoatrophy was 1.9 (95% CI: 1.3 - 2.9) for each additional year of accumulated exposure to standard dose stavudine. Cumulative time on standard dose stavudine was significantly associated with reductions in biceps and triceps skin-fold thickness (p=0.008). Conclusions: The prevalence of visually obvious lipoatrophy in pre-pubertal South African children on antiretroviral therapy is high. The amount of stavudine that children are exposed to needs review. Resources are needed to enable low-and-middle-income countries to provide suitable pediatric-formulated alternatives to stavudine-based pediatric regimens. The standard stavudine dose for children may need to be reduced. Diagnosis of lipoatrophy at an early stage is important to allow timeous antiretroviral switching to arrest progression and avoid stigmatization. Diagnosis using visual grading requires training and experience, and DXA and comprehensive anthropometry are not commonly available. A simple objective screening tool is needed to identify early lipoatrophy in resourcelimited settings where specialized skills and equipment are not available.