ECE2018 Poster Presentations: Adrenal and Neuroendocrine Tumours Clinical case reports - Pituitary/Adrenal (21 abstracts)
Long-term follow-up of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
Hamza Elfekih 1 , Yosra Hasni 1 , Wafa Badr 1 , Asma Ben Abdelkrim 1 , Bilel Ben Amor 1 , Amal Maaroufi 1 , Maha Kacem 1 , Molka Chaieb 1 , Moez Gribaa 2 , Koussay Ach 1 & Ali Saad 2
1Department of Endocrinology and Diabetology, Farhat-Hached University Hospital, Sousse, Tunisia. 2Department of Cytogenetic and Reproductive Biology, Farhat-Hached University Hospital, Sousse, Tunisia.
Introduction: Congenital adrenal hyperplasia (CAH) due to an enzymatic defect in 11-beta-hydroxylase (11β-OHD) is the second most common cause of CAH representing 5-8% of cases. It is characterized by androgen excess, hypertension and hypokalemia. Here we describe the case of a patient having a CYP11B1 mutation and being followed-up during 33 years.
Observation: A 36-year-old Tunisian male was diagnosed with 11β-OHD at the age of three years revealed by precocious pseudopuberty. Laboratory findings was characterized by high serum concentrations of 11-deoxycortisol (656 nmol/l), high ACTH level (1500 pg/ml) and low plasma renin activity (0.7 ng/ml). A homozygous p.G379V mutation in exon 7 of the CYP11B1 gene was found. The patient was issued from consanguineous marriage. He had three other family members having the same disease and all treated by hydrocortisone. He had two healthy children aging respectively of three and one-year-old. Acute adrenal deficiency didn’t occur during the follow-up. Hypertension associated with hypokalemia was discovered 23 years later and treated by calcium channel blocker. It has been complicated only by hypertensive retinopathy grade 1. The patient had a metabolic syndrome. He had an android fat distribution (BMI=31.5 kg/m2 and 102 cm abdomen circumference), a height of 169 cm, a normal external genitalia examination and bone density. The patient had normal glucose and triglyceride level with hypoHDLemia (0.23 g/l).
Discussion: CAH is an inherited autosomal recessive genetic endocrine disease. It is a group of diseases resulting from the deficiency of one of the steroidogenesis enzymes. 21-hydroxylase deficiency is the most common followed by 11β-OHD. In 11β-OHD, the p.G379V mutation found in our case in addition to the p.Q356X mutation have been described in Tunisian population. There is no systematic evaluation in adulthood of patients having 11β-OHD. Little is known regarding height, bone health, diabetes and mortality in those patients.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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