ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Endocrine Abstracts (2019) 63 P28 | DOI: 10.1530/endoabs.63.P28

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

Hamide Piskinpasa, Sema Ciftci Dogansen, Ilkay Cakır, Yasemin Sefika Akdeniz, Ayse Esen, Evin Bozkur & Meral Mert

Department of Internal Medicine, Division of Endocrinology and Metabolism, Bakirkoy Dr Sadi Konuk Training and Research Hospital, Istanbul, Turkey.

Introduction: Congenital adrenal hyperplasia (CAH) due to 11 beta-hydroxylase deficiency (11βOHD) is a rare autosomal recessive genetic disorder. It results defects in adrenal cortisol and aldosterone synthesis. Early diagnosis and initiation of treatment in male patients are essential in order to prevent serious complications. We report a male patient with CAH who developed complications because of late diagnosis

Case Report: 44-year-old male patient who admitted to emergency department with hypokalemia. Azoospermia was identified with the complaints of infertility two years ago. At andrology depatment; the laboratory tests were consistent with hypergonadotropic hypogonadism, chromosome analysis revealed a 46XY karyotype and scrotal ultrasonography showed bilateral testicular atrophy. The patient had a history of gynecomastia operation six years ago. Medical history revealed a growth retardiation observed at the age of 11 years. He did not have ambiguous external genitalia. He had a history of bilateral orchitis when he was 13 years old. The patient was consulted in the endocrinology department for bilateral adrenal masses, hypokalemia and hypertension. In the physical examination, body height was 162 cm and weight was 80 kg. His blood pressure was 160/80 mm/Hg. The other systems were examined and found normal. Laboratory assessments showed elevated levels of adrenocorticotropic hormone (ACTH) (76.2 pg/ml), androstenedion (2.17 ng/ml) and 11-deoxycortisol (13.82 ng/ml). After correction of hypokalemia; plasma renin and aldosterone concentrations were under normal limits. After ACTH stimulation test, 17-hydroxyprogesterone (17-OHP), 11-deoxycortisol and cortisol levels were 11 ng/ml, 289 ng/ml and 17 μg/dl at 60th minute, respectively. The hypokalemic hypertension, elevated 17-OHP, 11-deoxycortisol, androstenedione and low renin, aldosterone levels were all suggestive for an 11βOHD diagnosis. Abdomen magnetic resonance imaging scan showed bilateral adrenal masses with the sizes of the masses were 14.5×7 mm on the right adrenal and 32×28 mm on the left adrenal. Bilateral adrenal masses were thought to be related with CAH. Impaired gonadal function is common in adult men with CAH. This is indicated by the presence of testicular adrenal rest tissue and/or hypogonadotropic or hypergonadotropic hypogonadism. Our patient has hypergonadotropic hypogonadism and bilateral testicular atrophy without mass. This unpredictable feature is thought to be due to the history of bilateral orchitis.

Conclusion: CAH due to 11βOHD is a rare disorder with significant challenges in diagnosis and management. Wide spectrum of clinical presentation depending on the underlying enzymatic deficiency can cause late diagnosis. Both fertility and adrenal glands can be protected with an early diagnosis and an early glucocorticoid treatment.

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