Keywords
cortisol
21 hydroxylase
pediatrics
Abstract
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase (21-OH) deficiency is a rare disease characterized by impaired cortisol, aldosterone and androgen production. We present the case of a 2-month-old male who was admitted to the emergency department for severe acute malnutrition, without relevant history, with hyperpigmentation of the areolae and increased penile length for his age. Tests showed severe hyponatremia, hyperkalemia, hyperandrogenemia, elevated ACTH, but elevated cortisol levels. Given the clinical suspicion of CAH despite the high cortisol levels, hormone replacement was started, and genetic studies confirmed the mutation in the CYP21A2 gene that causes 21-OH deficiency. This case highlights that a high suspicion of CAH by clinical findings and the use of genetic testing, despite confounding factors such as high cortisol levels, lead to an adequate diagnosis and treatment. Additionally, emphasis is placed on the importance of neonatal metabolic screening for early detection of a potentially fatal pathology that can go unnoticed, and its treatment can be delayed leading to failure to thrive and saline crisis as in this case.
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