Endocrine Abstracts

Introduction: Patients with clinical clues suggesting the possible presence of secondary hypertension should undergo a more extensive evaluation, because in this case some of these disorders can be cured, leading to partial or complete normalization of the blood pressure.

Case description: We report a case of a 43-year-old man, who suffered for years of hypertension despite concurrent use of adequate doses of three antihypertensive agents from different classes. He presented a heart failure, diffuse hypokinesia and a reduction of his ejection fraction to 40%. In the blood tests he had hypokalemia, low cortisol (117 mmol/l) with high ACTH (1013 ng/l), low aldosterone (21.8 ng/l) and renin at 9 µUI/ml. In this context we tested testosterone (30.4 nmol/l), androstenedione (31 ng/ml), DHEAS (17,8 µmol), 17OH progesterone (8 ng/ml) and the 11 deoxycortisol (>30 ng/ml). The abdominal scan showed bilateral adrenal hyperplasia and on testicular ultrasound the patient presented bilateral intra-testicular lesions compatible with intra-testicular adrenal inclusions. The genetic test confirmed the suspicion of the congenital adrenal hyperplasia by 11-hydroxylase deficiency. It showed a homozygous mutation in the CYP11B1 gene, chromosome 8, exon 8, pArg448His. The patient didn’t have the adrenal crisis before despite the cortisol deficiency. We started the treatment by Dexamethasone 0.5 mg per day and 6 months later we obtained a normalization of the blood pressure and a decrease of adrenals hyperplasia and intra-testicular adrenal inclusions.

Discussions: CYP11B1 deficiency affects 1 in 100,000 live births and accounts for up to 5% of adrenal steroidogenic defects. The frequency of no classic disease is far less common for 11hydroxylase. Patients do not have adrenal crisis due to accumulated adrenal steroid precursors that can activate the glucocorticoid receptors, especially for hydroxylation at position 11 which enhances glucocorticoid activity.

Conclusions: We report a case with a late diagnostic of congenital adrenal hyperplasia by 11-hydroxylase deficiency, with proven cortisol deficiency without adrenal crisis, but good treatment response.

Keywords: hypertension, congenital adrenal hyperplasia, 11-hydroxylase deficiency