Endocrine Abstracts

Introduction: A rare cause of adrenal incidentaloma is congenital adrenal hyperplasia (CAH). Nonclassic CAH is one of the most frequent autosomal recessive disorders. Most cases of nonclassic CAH are never diagnosed due to very mild symptoms.

Case report: A 62-year-old woman admitted at our Department for right adrenal incidentaloma sized 39×34×38 mm confirmed by MRI. She was asymptomatic. Her past medical history included stabile hypertension, euthyroid Hashimoto thyroiditis, uterine leiomyoma, varicose vein surgery and pulmonary embolism. Menarche occured at the age of 18, and the monthly menstrual cycle continued until the menopause at the age of 51. She had a miscarriage and three failed in vitro fertilisation attempts. Upon physical examination clitoromegaly was present. Endocrine assessment for excess of cortisol, catecholamine and aldosterone concluded that the adrenal mass was hormonally non-functioning. ACTH level was normal. 17- hydroxyprogesterone, total testosterone, androstenedione and progesterone were elevated: 26 nmol/l, 3.4 nmol/l, 8.5 ng/ml, 16.2 nmol/l, respectively. A 0.25-mg intravenous ACTH-stimulation level of cortisol (341/347/402) and 17- hydroxyprogesterone (29/51) showed partial cortisol insufficiency and nonclasssic CAH. After informed consent molecular genetic study for CAH was conducted. Our patient was found to be a heterozygote with two mutations in the CYP21A2 gene: p.P30L i I2G, that verified the diagnosis of CAH. In order to prevent adrenal insufficiency Hydrocortisone was advised in a case of surgical procedures or illness. During the 2 year follow-ups there were changes in either clinical and biochemical presentations or in repeated abdominal MRI examinations.

Conclusion: Undiagnosed nonclassic CAH is the cause of miscarriage, infertility and adrenal incidentaloma in our patient. 17- hydroxyprogesterone would be determined in all patients with infertility or adrenal incidentaloma.