Clinical, immunologic and insulin secretory characteristics of young black South African patients with diabetes: Hospital based single centre study.

AIMS: To classify and characterize the clinical features of various diabetes classes among young black South Africans. METHODS: Cross sectional study of 60 black patients with diabetes, all less than 30 years of age and attending Nelson Mandela Academic Hospital, Mthatha, South Africa. Diabetes was classified as Types 1A, 1B and 2 based on the anti-glutamic acid decarboxylase status and serum C-peptide response to intravenous injection of glucagon. RESULTS: Mean age was 19.6±4.8 years (n=60) with similar gender distribution. The mean duration of diabetes was 24.2±45.1 months. Type 1A was the class of diabetes in 55% (n=33/60) of patients. Type 1B and 2 accounted for 30% (n=18/60) and 15% (n=9/60) of patients respectively. Patients classified as Type 2 had higher waist circumference and higher prevalence of acanthosis nigricans than Types 1A and 1B groups. History of diabetes in a first degree relative and hypertension were found in similar proportions of patients with Types 1A, 1B and 2 diabetes. Five Type 1A diabetes patients had body mass index of 26.2-41kg/m(2) and this included two newly diagnosed patients with body mass index of 26.7kg/m(2) and 33.2kg/m(2). CONCLUSION: The majority of our young black South Africans with diabetes are of the Type 1A class. Acanthosis nigricans was not found in any patient with Type 1 A diabetes. A minority of Type 1 A diabetes patients were obese at initial diagnosis.

Familial hypophosphataemic rickets affecting a father and his two daughters: a case report.

BACKGROUND: Hypophosphataemic rickets (HR) is a rare cause of short stature associated with limb deformities. OBJECTIVE: To report the clinical and laboratory features of HR in two siblings and their father. METHODS: Following the diagnosis of HR in a 4-year-old girl, her siblings and parents were screened using clinical, laboratory, and radiological parameters. RESULTS: Short stature, lower limb deformities, frontal bossing and hypophosphataemia were present in all three patients. Serum alkaline phosphatase (ALP) was markedly elevated in both siblings who were aged two and 11 years but only minimally raised in their 43-year-old father. While spontaneous mutation is the presumed aetiology in the father, X linked dominant inheritance is the likely cause in both daughters. CONCLUSIONS: Hypophosphataemic rickets should be considered in the differential diagnosis of short stature associated with limb deformities regardless of a family history of HR. Serum ALP may not be remarkably elevated when the diagnosis is made in adulthood.

Hyperglycaemic crisis in the Eastern Cape province of South Africa: high mortality and association of hyperosmolar ketoacidosis with a new diagnosis of diabetes.

OBJECTIVES: To describe the frequencies, presenting characteristics (demographic, clinical and biochemical) and outcomes (duration of admission and mortality rates) for various types of hyperglycaemic crisis. METHODS: Retrospective review of medical records of patients with hyperglycaemic crisis admitted to Nelson Mandela Academic Hospital, Mthatha, E Cape, from 1 January 2008 to 31 December 2009. Outcome measures were duration of admission and mortality. RESULTS: Data were available for 269 admissions (response rate 81.0%), 169 females and 100 males. Admissions for hyperglycaemia (HG, N=119), and non-hyperosmolar diabetic ketoacidosis (NHDKA, N=97) were more frequent than those for hyperosmolar hyperglycaemic state (HHS, N=29) and hyperosmolar diabetic ketoacidosis (HDKA, N=24). Duration of admission was similar in all groups. Mortality was high in all groups, but was higher in patients with HDKA (37.5%, risk ratio (RR) 3.88, 95% confidence interval (CI) 1.41 - 10.67, p=0.009), HHS (31.0%, RR 2.91, 95% CI 1.09 - 7.75, p=0.033) and HG (19.5%, RR 1.56, 95% CI 0.75 - 3.21, p=0.236) than in those with NHDKA (13.4%). HDKA (62.5%) was associated with new-onset diabetes more often than NHDKA (27.8%), HHS (44.8%) or HG (17.6%) (p<0.0001). An altered level of consciousness was more frequent in HDKA than NHDKA admissions (RR 5.71, 95% CI 1.90 - 17.17, p=0.002). CONCLUSIONS: Duration of hospital stay was similar across groups. Mortality rates were high in all groups. New-onset diabetes, altered level of consciousness and mortality were more characteristically associated with HDKA than any of the other types of hyperglycaemic crisis. Optimal glycaemic control in known diabetic patients will reduce rates of hyperglycaemic crisis admissions.

Steroid responsive hypertension secondary to 11-beta hydroxylase deficiency--a case report.

BACKGROUND: Congenital adrenal hyperplasia (CAH), due to deficiency in 11â hydroxylase enzyme is rare a cause of virilization associated with glucocorticoid responsive hypertension. OBJECTIVE: To present a rare cause of CAH and secondary hypertension responsive to glucocorticoid therapy. METHODS: Clinical and laboratory evaluation of a young woman with a "phallus" and hypertension. Investigations carried out included serum biochemistry, bone age determination, sex chromatin evaluation and serum levels of androgens and 17-OH progesterone, as well as pelvic ultrasonography. RESULTS: There was a history of cliteromegaly, first noticed at age 14 years, but menstrual periods were said to be regular. Physical findings included male type hairline and musculature with a blood pressure of 160/110mmHg. Breast development was Tanner Grade 3 while the public hair was male in pattern. The clitoris was 5cm long. Serum electrolytes were normal but levels of testosterone, dehydroepiandosterone sulphate and 17-OH progesterone were elevated. Features were compatible with a diagnosis of congenital adrenal hyperplasia (CAH) due to Il-beta-hydroxylase defficiency. Hypertension responded to glucocorticoid therapy, recurred on default and was corrected again on re-starting hydrocortisone. CONCLUSION: Congenital adrenal hyperplasia due to 11â-hydroxylase deficiency though rare, should be considered in the differential diagnosis of hypertension with virilization in young females.

A 10-year retrospective analysis of pregnancy outcome in pregestational Type 2 diabetes: comparison of insulin and oral glucose-lowering agents.

AIMS: To review the use of oral glucose-lowering agents (OGLA) in pregnant women with Type 2 diabetes mellitus. METHODS: Retrospective analysis of outcomes and their predictors in singleton pregnancies > or = 24 weeks managed at Groote Schuur hospital, Cape Town, South Africa from 1991 to 2000. There were 379 pregnancies, subdivided into three groups according to therapy: OGLA alone, converted from OGLA to insulin, insulin alone or converted from diet alone to insulin. The OGLA used were metformin and glibenclamide. RESULTS: Mean glycated haemoglobin (HbA(1c)) was similar at booking and throughout pregnancy in all groups. In the OGLA alone, converted from OGLA to insulin and insulin alone/converted from diet alone to insulin groups, fetal anomaly rates were comparable: 5.7%, 2.0% and 0.0%, P = 0.2, respectively; whereas perinatal mortality rates (per 1000 births) were: 125, 28, 33, P = 0.003, respectively. Booking HbA(1c) was independently associated with fetal anomaly [odds ratio (OR) 1.48; 95% confidence interval (CI) 1.11, 1.97; P = 0.006]. The specific OGLA used in the first trimester was not associated with the occurrence of fetal anomaly. Last HbA(1c) (OR 1.65; 95% CI 1.16, 2.42; P = 0.005) and fetal anomaly (OR 15.18; 95% CI 2.43, 93.37; P = 0.005) were independently associated with perinatal mortality. Conversion from OGLA to insulin was protective for perinatal mortality compared with OGLA alone treatment (OR 0.220; 95% CI 0.061, 0.756; P = 0.024). No perinatal mortality was observed in women on metformin alone. CONCLUSIONS: These data suggest that metformin and glibenclamide are not teratogenic but that it is advisable to replace OGLA, in particular glibenclamide, with insulin when women book for pregnancy care to reduce perinatal mortality rates.