A Case of 21-hydroxylase Deficiency with Massive Bilateral Adrenal Masses

Işılay Kalan Sari; Ceren Erdoğan Eroğlu

doi:10.3889/oamjms.2023.11536

Authors

Işılay Kalan Sari Department of Endocrinology and Metabolic Disorders, University of Health Sciences, Antalya Training and Research Hospital, Antalya, Turkey https://orcid.org/0000-0002-0391-7848
Ceren Erdoğan Eroğlu Department of Endocrinology and Metabolic Disorders, University of Health Sciences, Antalya Training and Research Hospital, Antalya, Turkey https://orcid.org/0000-0002-5986-0641

DOI:

https://doi.org/10.3889/oamjms.2023.11536

Keywords:

Bilateral macronodular adrenal hyperplasia, Congenital adrenal hyperplasia, 21-hydroxylase deficiency, Female hermaphrodism

Abstract

Background: Congenital adrenal hyperplasia (CAH) can lead to bilateral adrenal tumors. Excess adrenocorticotropic hormone is thought to play a role in the development of adrenal nodules. Here we present a patient with a simple virilizing form of 21-hydroxylase deficiency, a married man, bilateral adrenal tumors, and 46-XX chromosomes.
Case report: 39-year-old man suffered from abdominal pain and tension. Abdominal tomography showed macronodular hyperplasia in both adrenal glands, with the largest nodule reaching 4.2 cm on the left side. The patient's old records showed that CAH had been diagnosed at the age of 11 years, but the patient was not taking any medication. The patient was treated with glucocorticoid. Despite irregular use of the treatment, the size of the nodules remained stable for 3 years, and then a significant reduction in nodule size was observed.

Conclusion: In patients with bilateral adrenal masses and incidentaloma, CAH should be considered to avoid unnecessary surgery or biopsy. A 17-hydroxyprogesterone test in a suspicious patient is a useful tool for diagnosis.

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