Bilateral Adrenal Macronodular Hyperplasia in a Patient with Colorectal Adenomatosis

Presentation Number: SAT 380
Date of Presentation: April 1st, 2017

Juan Diego Palacios*1, Zeina Carolina Hannoush2, Josefina Farra3 and Alejandro Ayala4
1UNIVERSITY OF MIAMI/JACKSON MEMORIAL HOSPITAL, Miami, FL, 2University of Miami and Jackson Memorial Hospital, Miami, FL, 3University OF Miami, 4University of Miami Miller School of Medicine, Miami, FL

Abstract

Background

Bilateral adrenal macronodular hyperplasia (BAMH) is a rare form of Cushing's syndrome characterized by the presence of bilateral cortisol-secreting adrenal nodules and hypercortisolism. Familial Adenomatous polyposis(FAP) is an autosomal dominant disease resulting from an inactivating germline mutation of the tumor suppressor gene APC. The association of these two syndromes is rare and it is possible that they share common pathophysiologic pathways.

Case Presentation.

A 68 yo female presented with plethora, lower extremity edema, progressive proximal myopathy, centripetal weight gain, recent diagnosis of type 2 DM, hypertension and metabolic alkalosis with hypokalemia. She had severe osteoporosis with multiple thoracic vertebral compression fractures. Laboratory evaluation revealed elevated 24 hour urine cortisol ranging from 177 – 227(4 - 50 mcg/24h), cortisol level 20.6 mcg/dL after administration of 1 mg of dexamethasone, with ACTH level < 5 pg/ml. There was no evidence of hyperaldosteronism. Abdominal CT revealed enlarged adrenal glands with multinodular appearance with maximum diameters of 6.5 x 2.6 cm on the right side and 6.9 x 3.4 cm on the left side, pre-contrast attenuation of -3 and 10HU. The patient underwent bilateral adrenalectomy confirming a multinodular cortical hyperplasia with a left adrenal gland weighing 76 grams and right adrenal gland weighing 42 grams. Four weeks following surgery, she underwent a colonoscopy for evaluation of hematochezia, revealing 10 to 15 pediculated polyps averaging 5 to 20 mm and involving the recto-sigmoid area. A fungating, polypoid non-obstructing large mass was biopsied. Histopathology reported tubulovillous adenoma with high-grade dysplasia with immunohistochemistry positive for MLH1, MSH2, MSH6, PMS2 compatible with microsatellite stability. Discussion

BAMH is a rare cause of Cushing Syndrome(CS), accounting for less than 1% of adrenal CS.(1) Cushing syndrome in BAMH may result from intra-adrenal corticotropin signaling, from aberrant adrenal expression of ectopic receptors or increased activity of eutopic peptide hormone receptors(2). BAMH has been reported in patients with hereditary leiomyomatosis, renal cell cancer, MEN-1 and McCune–Albright syndrome (3). The medical literature reveals 3 other cases of BMAH associated with familial adenomatous polyposis. Yamakita et al reported a case of BAMH associated with multiple colon carcinomas. Gaujoux et al isolated a heterozygous germ line deletion (c.1863_1866del4/p.Thr621fsX628) in a patient with BAMH and FAP, while Hsiao et al described a heterozygous APC gene mutation(4393_4394delAG)in a patient with BAMH and colonic polyps. Our case illustrates the association between colonic polyposis and BAMH. Physicians should strongly consider systematic familial screening with genetic testing for APC in similar clinical presentations.

 

Nothing to Disclose: JDP, ZCH, JF, AA