Abstract
A 22-year-old female patient was admitted due to primary amenorrhea and chronic weakness. Parental consanguinity, delayed puberty with normal stature form the additional information. Hypokalemia with metabolic alkalosis, low cortisol, high ACTH, LH and FSH pointed to the possibility of congenital adrenal hyperplasia CAH with 17? hydroxylase deficiency. 46XX karyotype and high progesterone supported this.. In summary, the possibility of 17 OHD should be suspected in patients with hypokalemic normal blood pressure or hypertension and hypergonadortropic hypogonadism. Our patient all clinical and laboratory findings we diagnosed a 17-alpha hydroxylase deficiency in this patient and hydrocortisone (10 mg/day) and ethinyl estradiol 0.03 mg/day was started.
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