Bilateral Calcified Macronodules in the Adrenal Glands As an Initial Presentation of Congenital Adrenal Hyperplasia

Presentation Number: SAT-0758
Date of Presentation: June 21st, 2014

Aqueel Usman1, Thanh Duc Hoang*2, Vinh Quang Mai1, Patrick W Clyde1 and K M Shakir1
1Walter Reed National Military Medical Center, Bethesda, MD, 2Naval Medical Center San Diego, San Diego, CA

Abstract

Background: Bilateral adrenal nodules usually require a thorough investigation to rule out underlying disorders that can have significant adverse clinical implications.  Herein we report an elderly male presenting with calcified bilateral macronodules due to non-classic (late onset) congenital adrenal hyperplasia (CAH).

Clinical case: An 80-year-old male was referred for evaluation of adrenal nodules.  Patient had no signs or symptoms of Cushing’s syndrome, pheochromocytoma, or any malignancy.  Review of systems was essentially negative other than unsteadiness and vertigo.  Family history did not reveal any endocrine disorders.  Physical examination showed HR 58 bpm, BP 151/71 mmHg, BMI 20.8, no stigmata for Cushing’s syndrome and normal testicular examination. Laboratory tests: serum testosterone 398 ng/dL, androstenedione 58 ng/dL, DHEA 37 mcg/dL, DHEAS 79 mcg/dL, aldosterone/renin ratio 1.4, 17-OHP 187 ng/dL. Abdominal CT scan showed bilateral adrenal nodules with rim calcifications (right 5.5cm x 4.0cm with HU 20.5, left 2.7 cm x 3.5 cm HU 30). A previous CT scan in 2005 showed bilateral adrenal nodules, right 5.3cm x 4.0cm HU 26, left 5.4cm x 3.6 cm HU 24. Stimulation with 250 mcg of ACTH revealed elevated 17-hydroxyprogesterone 1495 ng/dL at 30 minutes and 1464 ng/dL at 60 mintues, confirming a diagnosis of CAH due to 21-hydroxylase deficiency.  11-deoxycortisol, 17-hydroxypregnenolone and cortisol responses were normal. Peripheral blood gene analysis confirmed heterozygous CYP21A2 mutation (Val281Leu).

Discussion: The differential diagnosis of bilateral adrenal nodules involves granulomatous disease, bilateral pheochromocytoma, bilateral primary aldosteronism, adrenal myelolipoma, adrenal metastases from malignancy elsewhere (1, 2).  Detailed evaluation did not confirm these disorders; and this patient was diagnosed with late onset heterozygous CAH.  It has been suggested that elevated CRH and ACTH may have contributed to adrenal hyperplasia and subsequent formation of adrenal nodules. Adrenal nodules are more common in homozygous than heterozygous patients with CAH although there are some overlaps in 17-OHP responses (2). 

Conclusions: Patients with bilateral adrenal nodules should be evaluated for CAH after excluding other underlying disorders. Additionally gene testing may be useful to confirm the diagnosis in patients with borderline response to ACTH stimulation test.

 

Nothing to Disclose: AU, TDH, VQM, PWC, KMS