Case Report

Diagnostic imaging in congenital adrenal hyperplasia – how does it help?

Gul Bano*, Claudette Phillips, Sarah Tang, Anup Sharma and Nigel Beharry

Published: 29 April, 2020 | Volume 4 - Issue 1 | Pages: 007-010

The phenotypic manifestation of congenital adrenal hyperplasia (CAH) is variable, and this largely depends on the extent of 21-Hydroxylase enzyme deficiency. In non- classic CAH (NCCAH), the clinical features predominantly reflect the androgen excess rather than adrenal insufficiency. In boys, the condition may not present until much later in childhood, where the diagnosis is made following presentation with precocious puberty, features of aldosterone insufficiency, or this condition may be detected during fertility workup Imaging is generally not used in the evaluation of CAH, but may be helpful for the diagnosis, management, and follow-up of these patients. CAH can result in adrenal enlargement in both classic and non-classic forms of adrenal hyperplasia. The so-called adrenal rest tissue may be seen at several sites throughout the body, including the celiac plexus region, broad ligaments, normal ovaries, and testes. Sustained elevation of adrenocorticotropic hormone (ACTH) in patients with CAH has been postulated to cause adrenal rest cells to grow and become functionally active. The discovery of bilateral adrenal enlargement during radiologic evaluation for unrelated disease processes might serve as a mode of presentation for clinically not apparent or non- classical congenital adrenal hyperplasia (NCCAH).

Read Full Article HTML DOI: 10.29328/journal.acem.1001013 Cite this Article Read Full Article PDF


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