[Primary amenorrhea and arterial hypertension in a case of 17 alpha-hydroxylase deficiency].

A 28 year old patient presented with primary amenorrhoea, streak ovaries, mosaicism with 46,XX/47,XXX, hypertension resistant to a tri-therapy and osteoporosis. The presence of hypergonadotropic hypogonadism, increased levels of corticosterone and desoxycorticosterone, a decreased response of cortisol and aldosterone to i.v. ACTH were characteristic of a 17 alpha-hydroxylase deficiency. Administration of 0.5 mg of dexamethasone normalized the blood pressure. Genetic origin of this disease and the different aspects of the ovaries that have been observed are discussed.