RT Journal Article
SR Electronic
T1 Bilateral adrenal myelolipomas presenting as acute adrenal insufficiency in an adult with congenital adrenal hyperplasia
JF BMJ Case Reports
JO BMJ Case Reports
FD BMJ Publishing Group Ltd
SP bcr-2018-226826
DO 10.1136/bcr-2018-226826
VO 12
IS 2
A1 Sakolwan Suchartlikitwong
A1 Rahul Jasti
A1 Joaquin Lado-Abeal
A1 Ana Marcella Rivas Mejia
YR 2019
UL http://casereports.bmj.com/content/12/2/bcr-2018-226826.abstract
AB Adrenal myelolipomas are relatively rare tumours composed of adipocytes and myeloid cells that arise in response to chronic adrenocorticotropic hormone stimulation. We present the case of bilateral adrenal myelolipomas in a 39-year-old man with untreated congenital adrenal hyperplasia (CAH) presenting with acute adrenal insufficiency and severe virilisation. Phenotypically, he is a man of short stature and has hyperpigmentation of the skin, gingiva and nail beds. Genital examination revealed micropenis and no palpable testes. Laboratory testing was consistent with primary adrenal insufficiency. An abdominal CT showed bilateral adrenal myelolipomas. An MRI of the pelvis revealed female reproductive organs. Chromosome study showed a karyotype of 46,XX. A CYP21A2 gene mutation confirmed diagnosis of CAH with 21-hydroxylase deficiency. The patient was treated with stress dose corticosteroids, subsequently tapered to physiological doses. We review previously reported cases and discussed diagnosis and treatment, including hormonal therapy and psychological approach.