Diagnosis and Timely Treatment of Salt-Wasting Congenital Adrenal Hyperplasia-Case Report and Literature Review

Valentina Ibarra, Orlando Naranjo, Diego Baloco, Adriana Ramos, Mari Salaiman, Stacey Fragozo

Abstract: Congenital adrenal hyperplasia (CAH) encompasses autosomal recessive disorders marked by cortisol biosynthesis defects, often leading to androgen excess and adrenal crisis. The classical form, primarily caused by 21-hydroxylase deficiency, constitutes the majority of cases. This report presents a three-week-old female with ambiguous genitalia and electrolyte imbalances, ultimately diagnosed with the salt-wasting form of CAH. Clinical features, diagnostic measures, therapeutic strategies, and prognosis are discussed in light of current literature, emphasizing the necessity of early detection and multidisciplinary care in such life-threatening endocrine conditions.

Keywords: congenital adrenal hyperplasia, 21-hydroxylase deficiency, ambiguous genitalia, adrenal insufficiency, pediatric

How to Cite?: Valentina Ibarra, Orlando Naranjo, Diego Baloco, Adriana Ramos, Mari Salaiman, Stacey Fragozo, "Diagnosis and Timely Treatment of Salt-Wasting Congenital Adrenal Hyperplasia-Case Report and Literature Review", Volume 14 Issue 9, September 2025, International Journal of Science and Research (IJSR), Pages: 328-331, https://www.ijsr.net/getabstract.php?paperid=SR25830182821, DOI: https://dx.doi.org/10.21275/SR25830182821