A Case Series of Patients with Primary Macronodular Adrenal Hyperplasia in a Clinical Practice

Presentation Number: SUN 417
Date of Presentation: April 2nd, 2017

Justin Jihoon Yoon*1 and Ricardo Rafael Correa2
1Brown University, East Providence, RI, 2Brown University, Warren, RI

Abstract

Introduction:

Primary macronodular adrenal hyperplasia (PMAH) presents with enlarged bilateral adrenal glands with a broad spectrum of clinical phenotypes including no symptomatology, Cushing syndrome (CS), subclinical CS, primary aldosteronism (PA), and PA with glucocorticoid production. We describe case series of two patients with PMAH in a clinical practice.

Case1:

A 67-year-old woman with multiple comorbidities and depression was admitted for psychosis without typical Cushingoid features. She received CT A/P for transaminitis and was found to have bilateral adrenal thickening. Further work-up revealed mildly elevated 1mg Overnight Dexamethasone Suppression Test (ONDST) cortisol level 3.1 UG/DL (no dexamethasone (dex) level), 2mg ONDST 2.1 UG/DL with serum dex level 398 ng/dL midnight salivary cortisol (MNSC) 0.16 mcg/dL (n <=0.09 mcg/dL), 24 hour urine cortisol level 6.5mcg/24 hours. (n 4.5-50 mcg), ACTH 5pg/mL (n 6-50 pg/mL), plasma renin activity level 3 ng/mL/h (n supine 0.2 - 1.6 ng/mL/h), and aldosterone level 13 ng/dL (n supine 3-16 ng/dL). The MRI of abdomen confirmed bilateral adrenal gland thickening. She was diagnosed with PMAH with subclinical CS and monitored clinically due to multiple comorbidities.

Case 2:

An 83-year-old AA woman with CKD stage III and HTN presented with bilateral adrenal hyperplasia. She had been hospitalized for hypertensive urgency with systolic blood pressure up to 240 mmHg with sodium level 120 mEq/L (n 135-145 mEq/L) and potassium level 3.2 mEq/L (n 3.6-5.1 mEq/L). Hyponatremia was thought to be due to poor solute intake and hydrochlorothiazide use, which was discontinued. The patient was on four different antihypertensive drugs, but was not on any medications that would interfere with ONDST. Further work up for secondary HTN showed plasma renin activity level <0.2 ng/mL/h, aldosterone level 19 ng/dL, ACTH level 9 pg/mL, 2mg ONDST 3.1UG/DL with serum dex level 729 ng/dL, MNSC 0.04 mcg/dL, 24h urine cortisol 27.2 mcg/24h, plasma and urine metanephrines were in the normal range. Renal US did not show renal artery stenosis. MRI of abdomen revealed bilateral adrenal gland thickening without evidence of a definite mass. The patient was diagnosed with PMAH with PA and subclinical CS, and was started on a medical treatment (spironolactone) due to her comorbidities.

Discussion and Conclusion:

PMAH's bilateral nature of the disease is thought to be due to its genetic origin, especially the alteration in ARMC5 gene, which appears to act as tumor suppressor gene. This case series demonstrates rare cases of patients with PMAH that were presented and diagnosed in a clinical practice. These cases suggest patients with incidental bilateral adrenal enlargement on imaging should be screened for biochemical alterations in the adrenal glands.

 

Nothing to Disclose: JJY, RRC