Spontaneous sexual development and menarche in a female with 17 alpha-hydroxylase deficiency

Case report of a 46-year-old female with clinical and laboratory findings typical for 17 alpha-hydroxylase deficiency who had spontaneous menarche and thereafter regular menses until the age of 28, when menstruation stopped after right and left ovariectomy at the age of 27 and 28 yr, respectively. Common and electron microscopy study of one (left) excised adrenal showed no recognizable histological zones, nodular hyperplasia of the cells found normally in the zona fasciculata and complete absence of the cells of the zona glomerulosa. Treatment of hypertension with spironolactone (for 20 days) and aminoglutethimide (for 15 days) was ineffective, while glucocorticosteroid treatment was highly successful.