Endocrine Abstracts

Background: A 17 alpha-hydroxylase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia (CAH). Congenital adrenal hyperplasia (CAH) is a group of disorders resulting from defect of one of enzymes necessary for biosynthesis of cortisol.

Case Report: A 33-year-old female suffered from 17OHD. She presented with primary amenorrhea, lack of secondary sexual characteristics, and hypertension complicated by ruptured cerebral aneurysm. Laboratory tests showed hypokalemia, low levels of androgens, corticosteroid, and high levels of adrenocorticotropic hormone, 11 Deoxycorticosterone and progesterone. Due to the severe initial presentation with signs of malignancy in adrenal imagery, the decision was to realize left adrenalectomy and to discuss the primary amenorrhea previously. The clinical manifestations, imaging and laboratory results appeared to be consistent with a diagnosis of CAH in the patient, due to the observed 17α hydroxylase deficiency. The patient is putted on corticosteroids (dexamethasone) with normalization of adrenocorticotropic hormone, normal kaliemia and blood pressure.

Discussion: The classical presentation of 17OHD is hypertension, hypokalemia, and delayed puberty with lack of secondary sexual characteristics in a female of pubertal age group. Our patient had all the classical features. The diagnosis of 17OHD is based on clinical, biochemical, and molecular features. In our case, biochemically, there were decreased concentrations of DHEA, androstenedione, testosterone, estradiol, and cortisol, and increased concentrations of 11 Deoxycorticosterone and ACTH.

Conclusion: 17OHD is a rare disease associated with primary amenorrhea and hypertension. This case shows the importance of vital signs measurement, medical history and commitment to a systematic approach.

Keywords: adrenal hyperplasia- 17 alpha hydroxylase-congenital-deficiency-steroids