Congenital Adrenal Hyperplasia: A Clinical Review

David E. Harris

Citation: David E. Harris, "Congenital Adrenal Hyperplasia: A Clinical Review", Universal Library of Clinical Nursing, Volume 02, Issue 01.

Copyright: This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

CYP21A2 genes code for 21-hydroxylase (21OH), an enzyme required for the production of cortisol and aldosterone by the adrenal cortex. Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that occurs when both copies of a patient’s CYP21A2 genes are mutated and their ability to produce the adrenal cortical hormones cortisol, and also aldosterone in severe cases, is compromised but their production of adrenal androgens is increased. Neonates with severe CAH will experience life-threatening acute adrenal crisis unless promptly diagnosed and appropriately managed. CAH-induced adrenal crisis presents most critically with hypotension, hyponatremia, hypoglycemia, and hyperkalemia, as well as with less specific symptoms (fatigue, nausea, and vomiting). CAH is also the most common cause of androgenized genitalia in 46XX newborns. Patients with severe CAH will require lifelong hormone replacement and “sick day” dosing in response to physiologic stressors. Adults with CAH face lifelong health challenges, many associated with reproduction. Thus, a practitioner including an advanced practice nurse could encounter a patient with CAH in the emergency department or primary care office. This clinical review discusses the pathophysiology, presentation, diagnosis, and management of CAH. Its goal is to prepare advanced practice nurses and other practitioners to recognize CAH and contribute to the care of patients with CAH across the lifespan, with the goal of reducing complications.


Keywords: Congenital Adrenal Hyperplasia, Cah, Virilized Genitalia, Adrenal Crisis.

Download doi https://doi.org/10.70315/uloap.ulcnu.2025.0201002