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BACKGROUND: Congenital adrenal hyperplasia (CAH) caused by deficiency of the 21-hydoxylase (21-OH) enzyme is the most common form of CAH worldwide. OBJECTIVE: To evaluate the prevalence of CAH due to 21-OH deficiency, and its clinical presentation and biochemical profiles in affected children. METHODS: We performed a retrospective subset analysis of 44 children with confirmed CAH. RESULTS: All the children had classic CAH. The majority (59.8%) had classic salt-wasting (CSW) CAH and 40.1% had simple virilising (SV) CAH. The median age of presentation was 8.1 years (interquartile range (IQR) 4.5 - 11) in the SV group and 2 months (IQR 2 weeks - 5 months) in the CSW group (p=0.0001). No difference in age of presentation was noted between males and females (p=0.541). The clinical presentation was significantly different between the CSW and SV groups, and between males and females in the CSW group (p<0.0001). Most of the females with 46,XX CSW CAH (66.7%) presented with disorders of sex development (DSD), while the remaining 33.3% presented with DSD and dehydration and shock. All the males with 46,XY CSW CAH presented with dehydration and shock. Overall, 37.9% (11/29) of the children were obese or overweight at presentation. Gonadotrophin-releasing hormone-dependent central precocious puberty was observed on follow-up in 29.4% (10/34) of the children at a median of 6.7 years (IQR 5 - 7.7). CONCLUSION: The diagnosis of CAH is delayed in males and females in both SV and CSW forms of the disorder, which probably contributes to under-reporting of cases and a high mortality rate.
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Background. Coeliac disease (CD) is characterised by immune-mediated damage to the mucosa of the small intestine. Both CD and type 1 diabetes (T1D) have common auto-immune origins. Many patients with CD and T1D are asymptomatic or present with only mild symptoms; hence early diagnosis may only be facilitated by serological screening. Distal duodenal biopsy remains the gold standard for confirming the diagnosis. Objective. To describe the prevalence of CD in T1D patients presenting to the paediatric endocrine service at Inkosi Albert Luthuli Central hospital (IALCH) in Durban and document the relationship between positive coeliac serology and small-bowel biopsy results.Methods. A retrospective chart review was done at IALCH; the paediatric tertiary referral centre for KwaZulu-Natal (KZN) Province. The study sample included all patients with newly diagnosed T1D diagnosed between January 2008 and December 2011.Results. A total of 120 newly diagnosed T1D patients were included in the study; of whom 49 (40.8%) were coeliac serology positive and 61 (50.8%) serology negative. There was no significant difference between the two groups regarding mean age of presentation with diabetes; race; sex; urban v. rural origin and baseline anthropometric measurements. Of patients in the serology-positive group; 97.6% had no symptoms suggestive of CD. Of the 49 patients who were coeliac serology positive; 8 (16%) were biopsied: 3 (37.5%) were positive; 1 (12.5%) had intra-epithelial lymphocytes and 4 (50%) were negative. There was a strong positive correlation between biopsy results and titres of endomysial antibody results (p=0.047). Conclusion. There is a high prevalence of coeliac serology positivity in newly diagnosed T1D patients in KZN. This study provides evidence for screening of children with T1D for CD; and also confirms the low prevalence of symptoms