Two Siblings With Untreated CYP21 Deficiency and Giant Myelolipomas

Abstract

The authors present the case histories of 2 siblings with the virilizing form of congenital adrenal hyperplasia (CYP21 deficiency). The diagnosis was established during the neonatal period; however, glucocorticoid therapy was inconsistent. At the age of 30, the first case presented with pain in the right upper quadrant. An ultrasound scan disclosed a large mass occupying the greater part of the abdominal cavity. On computed tomography, this mass showed characteristics compatible with myelolipoma. The diagnosis was confirmed by pathologic examination. Interestingly, the sister of this patient, who was asymptomatic, was found to have similar tumors on both adrenal glands by ultrasound examination. The pathologic examination of these tumors confirmed the diagnosis of myelolipoma. The precise mechanism of myelolipoma development is not known. Prolonged ACTH stimulation could be a contributing factor. Both patients are now being treated with glucocorticoids. A review of the literature is presented. Learning Objectives• Appraise competing explanations of how myelolipomas may develop in patients with CYP21 deficiency, the virilizing form of congenital adrenal hyperplasia. • Relate the clinical and imaging features of myelolipoma as noted in a literature review of more than 200 patients, as well as possible complications and associated disorders. • List treatment options for myelolipoma and suggest ways of choosing between them. CASE REPORTS Case 1T his case report presents a 31-year-old Mexican woman with virilizing CYP21 hydroxylase deficiency. Shortly after birth, she had corrective surgery for ambiguous genitalia. She was treated with prednisone between 2 and 14 years of age. One year before admission, she developed a dull pain in the left upper quadrant associated with dyspepsia. On examination, she had a body mass index (BMI) of 36 kg/m 2 and a blood pressure of 120/70 mm Hg. Acanthosis nigricans and skin tags on the neck and axillae were prominent. A tender abdominal mass was identified in the left upper quadrant. A computed tomography (CT) scan (Fig. 1A) confirmed the presence of a large mass apparently attached to the left adrenal gland.