Bilateral adrenal myelolipomas presenting as acute adrenal insufficiency in an adult with congenital adrenal hyperplasia

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) presenti...

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Bibliographic Details
Published in:BMJ case reports 2019-02, Vol.12 (2), p.bcr-2018-226826
Main Authors: Suchartlikitwong, Sakolwan, Jasti, Rahul, Lado-Abeal, Joaquin, Rivas Mejia, Ana Marcella
Format: Article
Language:English
Subjects:
Adrenal Cortex Hormones - therapeutic use
Adrenal Gland Neoplasms - complications
Adrenal Gland Neoplasms - diagnostic imaging
Adrenal glands
Adrenal Hyperplasia, Congenital - blood
Adrenal Hyperplasia, Congenital - complications
Adrenal Hyperplasia, Congenital - diagnosis
Adrenal Insufficiency - blood
Adrenal Insufficiency - diagnosis
Adrenal Insufficiency - drug therapy
Adrenal Insufficiency - etiology
Adult
Case reports
Child & adolescent psychiatry
Congenital diseases
Delayed Diagnosis
Endocrinology
Female
Humans
Hyperplasia
Magnetic Resonance Imaging
Males
Medical screening
Mutation
Myelolipoma - complications
Myelolipoma - diagnostic imaging
Patients
Psychotherapy
Rare Disease
Surgeons
Systematic review
Teenagers
Testosterone
Tomography, X-Ray Computed
Tumors
Virilism - etiology
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Summary: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.
ISSN:1757-790X
1757-790X
DOI:10.1136/bcr-2018-226826