17 alpha-hydroxylase deficiency in genetic females. A report of two cases.

Endocrine studies were performed on two genetic females with 17 alpha-hydroxylase deficiency. Both patients had primary amenorrhea and no development of secondary sexual characteristics. One patient had only mild hypertension, whereas the second had severe hypertension. Both patients had increased levels of progesterone. Their levels of 17-hydroxyprogesterone and all other steroids that require 17-hydroxylation were low. The gonadotropin levels were in the menopausal range. Ovarian biopsy revealed follicles in various stages of development; many were cystic. Combined glucocorticoid and estrogen therapy resulted in breast development and lowering of blood pressure. Development of pubic hair occurred only after testosterone therapy.