Late-Onset Congenital Adrenal Hyperplasia Diagnosed at 53 Years of Age

Our aim was to present a case of late-onset congenital adrenal hyperplasia (LOCAH) diagnosed at 53 years of age because of bilateral surrenal adenoma (BSA). At 53 years of age, 11 years post-menopausal woman was referred to our out-patient clinic due to BSA. Patient’s physical examination was unremarkable and Ferriman-Gallwey score was 4. There was no history of diabetes or hypertension. Adenomatous lesions were detected in the right adrenal gland corpus (10 mm in diameter) and left adrenal gland corpus (20 mm in diameter) demonstrated as out-of-phase sequence signal loss on abdominal magnetic resonance imaging (MRI). There was no significant increase in lesion diameter from previous MRI. Hormonal function tests for Cushing’s syndrome, pheochromocytoma, and Conn’s syndrome were negative. The patient have two sons after spontaneous pregnancy. She has no hirsutism. Basal level of 17-hydroxy progesterone (17-OH-P) was 6.53 ng/mL thus 250 mcg adrenocorticotropic hormone stimulation test was ordered. Test results were cortisol 0’=8 ug/dL, cortisol 30’=9.16 ug/dL, cortisol 60’=10.12 ug/dL, 17-OH-P 0’=11.43 ng/mL, 17-OH-P 30’=42.85 ng/mL, and 17-OH-P 60’ >50 ng/mL. After the test, LOCAH and adrenal insufficiency were diagnosed. Hydrocortisone (25 mg/day) treatment was started. CYP21A2 mutation analysis revealed homozygous mutations of p.Arg339His (c.1016 G> A) in the exon 8 and p.Pro453Ser (c.1357 C> T) in the 10th exon. Test for patient’s family members was ordered. Patients followed with BSA should be investigated for LOCAH, even postmenopausal ones.