Endocrine Abstracts

Introduction: Congenital adrenal hyperplasia (CAH) due to 17-alpha-hydroxylase deficiency is a very rare form of CAH characterized by glucocorticoid deficiency, hypergonadotropic hypogonadism and hypertension with hypokalemia. It is an autosomal recessive disorder with an estimated incidence of one in 1,000,000 newborns. Over 100 mutations in the CYP17A1 gene have been identified with combined 17-hydroxylase/17,20-lyase deficiency, but in some authentic cases no mutation has been found.

Case report: Our patient was 24 years old, with no specific pathological history, referred to us for investigation of impuberty associated with arterial hypertension. Clinically, the patient presented an impuberty and severe hypertension onset at the age of 17, with no clinical signs of adrenal insufficiency or hyperandrogenism. Biochemical: hypokalemia of around 3 meq/l Hormonal investigation was in favor of hypergonadotropic hypogonadism, E2 : 11.53 pg/ml(12.5-166) FSH : 46.67 Mui/ml(25.8-21.5) LH : 31.28 Mui/ml(1.0-11.4) With 46 XX karyotype. We found primary adrenal insufficiency, CP at 0800 h :19 nmol/l (154-638) vs ACTH:165 pg/ml In this context, 17 hydroxylase deficiency was evoked, confirmed by a DOC: 5015 pg/ml(40-170) Corticosterone: 657 nmol/l (0.8-59) Morphologically, we realized an abdominal scan, which revealed bilateral adrenal nodules measuring 16×14 mm on the left and 14×10 mm on the right, consistent with adrenal adenomas. A genetic study is underway. Therapeutically, we introduced spironolactone at a dose of 75 mg/d. We opted for Hydrocortisone at a dose of 10 mg/d in the evening, as a brake, and gradually introduced estradiol valerate. Various reassessments revealed normalization of blood pressure and kalemia, with satisfactory breast development.

Conclusion: The diagnosis and management of 17-alpha-hydroxylase block is a challenge, given the rarity of this entity. Early diagnosis is very important, enabling appropriate treatment to reduce the severity of disorders and improve quality of life.