Endocrine Abstracts

JOINT3879

Introduction: 11ß-hydroxylase deficiency is the most common deficiency after 21-hydroxylase deficiency, usually diagnosed following signs of virilization in a newborn or 46XX fetus, and later following hypertension with hypokalemia.

Patients and methods: This is a retrospective study of 19 patients with 11ß-hydroxylase block consulting the endocrinology department of Ibn Aljazzar Hospital Kairouan

Results: We report 19 cases; 12 male and 7 female, with a current mean age of 23 years. Parental consanguinity was found in 9 cases (47.4%). The mean age of diagnosis was 31 months. The circumstances of discovery were neonatal screening in one girl, hypertension in 5 patients, sexual ambiguity in two girls, precocious pseudo-puberty in two boys, and growth retardation in one case, renal failure in one patient, hemorrhagic stroke in one patient and infertility in one patient. 17 High blood pressure was diagnosed in 89,5% (17 cases/19). 17 hydroxy progesterone was elevated in all patients and corticosterone was elevated in four patients in whom it was performed. The genetic diagnosis showed a high prevalence of the p.G379 V mutation in the homozygous state in exon7 of theCYP11B1 gene. Surgical repair of sexual ambiguity was performed in 3 girls. The evolution was marked by the occurrence of left ventricular hypertrophy in two patients and hemorrhagic stroke in one patient. Testicular adrenal rest tumors were diagnosed in 7 males.

Discussion: 11ß-hydroxylase enzyme deficiency is responsible for defective synthesis of cortisol and aldosterone, with accumulation of the upstream metabolites compound S and deoxycorticosterone (DOC), and excessive synthesis of adrenal androgens, resulting in different clinical forms depending on sex and age of onset. The hypersecretion of DOC and its metabolites, known for their mineralocorticoid action, can generate hypertension, which remains uncorrelated with DOC levels but can be responsible for serious complications.