A Huge Adrenal Myelolipoma in a Patient With a Suboptimally Controlled Congenital Adrenal Hyperplasia

Adrenal tumors in patients with congenital adrenal hyperplasia (CAH) are common, affecting 25%–30% of patients, and are associated with suboptimal control of CAH. Here we present a case of a patient with CAH who had huge myelolipoma.

Case Report

The patient was a 52-year-old man with history of 21-hydroxylase deficiency diagnosed at 2 months of age during workup for failure to thrive. He had a sporadic follow-up for known CAH. Several months before current presentation, he was incidentally found to have a large adrenal mass that was visualized on a computed tomography (CT) scan performed for evaluation of coronary calcium. Adrenal mass biopsy was performed under the direction of his local health care providers and demonstrated possible myelolipoma versus liposarcoma. Open adrenalectomy was scheduled, but the patient chose to pursue a second opinion on treatment and presented to our institution.

His review of systems was negative for signs of Cushing syndrome. He described occasional episodes of lightheadedness. He also reported abdominal discomfort and abnormalities in gastrointestinal transit. In addition to CAH, his medical history was positive for hypertension. His medications included hydrocortisone (15 mg on waking and 5 mg in the afternoon) and telmisartan. He was not taking fludrocortisone. On physical examination, his body mass index was 45.9 kg/m ² , blood pressure 126/74 mmHg, and heart rate 79 beats per minute. He had no features of Cushing syndrome and no edema on examination.

INVESTIGATIONS

Laboratory test results are shown in Table 86.1 . Serum androstenedione concentration was markedly elevated, and serum dehydroepiandrosterone sulfate (DHEA-S) concentration was slightly elevated, suggestive of suboptimal control of CAH. His renin plasma activity was elevated. CT images obtained elsewhere were reviewed and demonstrated a heterogeneous left 22.5 × 19.1 × 14.7–cm adrenal mass with areas of macroscopic fat and multiple 2–3 cm fat-containing right adrenal nodules ( Fig. 86.1 A).

TABLE 86.1

Laboratory Tests

Biochemical Test	Baseline	12 Months Later	Reference Range
17-Hydroxyprogesterone, ng/dL DHEA-S, mcg/dL Androstenedione, ng/dL Total testosterone, ng/dL Bioavailable testosterone, ng/dL Plasma renin activity, ng/mL per hour	14,700 446 6150 592 326 69	209 1290 147 44 18	<220 20–299 40–150 240–950 50–190 <0.6–3.0