Introduction: 21-Hydroxylase deficiency is the most frequent form of congenital adrenal hyperplasia (CAH) which is a common autosomal recessive disorder characterized by impaired adrenocortical and adrenomedullary function, and adrenal hyperandrogenism. Chronic glucocorticoid therapy and excess androgen exposure in patients with CAH may predispose them to developing a metabolic syndrome in adulthood.Our objective is to evaluate the metabolic syndrome in adulthood in a Tunisian cohort.
Subjects and Methods: We underwent a prospective study of 26 patients over 16 years of old with CAH.
Results: The cases included 26 patients (M: 11, F: 15) with CAH due to 21-hydroxylase deficiency with a mean age of 27.4 years (16.5-48 years). Eighteen patients had the classical CAH form and the remaining 8 patients had the non-classical form. The mean body mass index was 26,9 ± 4,27 kg/m2 (20,3-34,8 kg/m2). The most commonly used drug was hydrocortisone which was used by 21 cases. Five cases had been managed on dexamethasone alone. The mean body fat mass was 17,88 ± 9,8 kg (6-39,3kg) 24,8 ± 10,65 % of body mass (10,9 - 41,6 %). Eight patients suffered from obesity. Mean fasting serum glycaemia was 4,82 ± 0,52 mmol/l (3,85-5,54 mmol/l). Eighteen patients (78.2%) had a normal glucose tolerance, whereas 4 patients (17.4%) had impaired glucose tolerance and only one patient had diabetes. A hypercholesterolemia was observed in one patient, a combined hyperlipidaemia in another one and finally a low HDL-cholesterol in 5 patients. Hepatic cytolysis was noticed in one patient with a hepatic steatosis in abdominal ultrasound. Hypertension was confirmed in two patients.
At the end of this metabolic assessment and according to the criteria of theNCEP-ATPIII, the metabolic syndrome was confirmed in a single patient associating android obesity, diabetes and hypoHDLemia.
Conclusion: The risk of developing a metabolic syndrome appears to be considerably increased in case of HCS. All the compounds of metabolic syndrome have been identified during 21-OH deficiency, such as obesity, hyperleptinemia, dyslipidemia, insulin resistance and increasing body fat requiring screening in this population to prevent the complications of those comorbidities.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology