ESPE Abstracts (2019) 92 P3-97

Metabolic Syndrome in Adults with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Imen Gargouri1, Faten Hadjkacem 1, Wajdi Safi1, Dorra Ghorbel1, Rekik Nabila1, Charfi Nadia1, Thouraya Kamoun2, Mouna Mnif1, Mohamed Abid1


1Department Of Endocrinology, Hedi Chaker Hospital, Sfax, Tunisia. 2Department Of Pediatrics, Hedi Chaker Hospital, Sfax, Tunisia


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.

Article tools

My recent searches

No recent searches.