Endocrine Abstracts

Introduction: 17- α hydroxylase deficiency, an autosomal recessive disorder, is a rare cause of Congenital Adrenal Hyperplasia (CAH). The disease is usally diagnosed during infancy and childhood. We present here a rare case of an adult woman with 17-α hydroxylase deficiency diagnosed for first time in adulthood.

Presentation: A 49 year old woman, with no previous medical history came to the emergency department of our hospital unconscious with GSC 3-4/15. A CT head revealed a cerebral hemorrhage for which the patient had surgery and was transferred to the intensive care unit (ICU). In ICU she had persistent hypertension and severe hypokalemia not responding to treatment. From her history and the clinical examination revealed lack of any secondary sexual characteristics and the patient had never had menstrual cycle. Biochemical examination showed severe hypokalemia (K 2.7 mmol/l) , metabolic alcalosis (PH 7.496) and basal serum cortisol was very low (0.925 μg/dl). ACTH (406 pg/ml) and progesterone (24.24 ng/ml) were elevated and she had high FSH (143 mIU/ml) and LH (46.66 mIU/ml), low estrogen (5 pg/ml), low plasma rennin (3.7 pg/ml), 17-OH-Pg (0.6 ng/ml), and testosterone (0.025 ng/ml). An abdominal CT performed which showed hyperplasia of both adrenal glands, (6.5 cm in diameter) and she had a normal female karyotype (46XX). Based in the above findings the diagnosis of 17-α hydroxylase deficiency was made and treatment with dexamethasone 0.5 mg and spironolactone 100 mg twice a day was initiated which resulted in blood pressure control and correction of the hypokalemia. The patient had a sister who had intra-abdominal testes removed in childhood, ambigous external genitalia, a male karyotype (46XY) and normotensive. Hormonal evaluation showed a very low serum cortisol, 17-OH-Pg, estrogen, testosterone and plasma rennin while ACTH, FSH, LH, progesterone were increased.

Conclusions: 17- α hydroxylase deficiency is a rare form of CAH which can be underdiagnosed. Presenting features may vary within affected members of the same family. Blood pressure measurements should be carried out in all females presenting with hypogonadism and if hypertension is present 17- α hydroxylase deficiency might be suspected.