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Adrenal and Testicular Tumor Formation Due to 21-Hydroxylase Deficiency

Published:February 04, 2022DOI:https://doi.org/10.1016/j.amjmed.2022.01.033
      A 34-year-old male was referred for organic investigation of general fatigue. The patient had a medical history of 21-hydroxylase deficiency (21-OHD), for which glucocorticoid replacement therapy was commenced from birth. He was obese (154.1 cm, 71.1 kg), but results of physical examination were unremarkable. Basal plasma adrenocorticotropin level was elevated to 183.0  pg/mL (reference range: 7.2-63.3). Serum level of basal cortisol and free testosterone level were low (0.3 μg/dL [7.07-19.6] and 5.3 pg/mL, respectively), but levels of gonadotropins were normal. Computed tomography showed adrenal myelolipomas (Figure 1A). Magnetic resonance imaging suggested testicular adrenal rest tumors (Figure 1B), and semen analysis revealed oligospermia.
      Figure
      Figure(A) Abdominal computed tomography revealing bilateral adrenal myelolipomas (arrowheads). (B) T2-weighted image of magnetic resonance imaging suggesting bilateral testicular adrenal rest tumors.
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