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2025, Number 3

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Sal Jal 2025; 12 (3)

Congenital adrenal hyperplasia: adrenal crisis and virilized genitals

Santillán-Sánchez LG, Campante-Arteaga AA, Curiel-Vargas DM, Del CMA, Rosas-Trujillo LB, Del CAP

Language: Spanish
References: 19
Page: 180-184
PDF size: 786.65 Kb.


ABSTRACT

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders that arise from the deficiency of one of the enzymes required for the biosynthesis of cortisol, aldosterone, and androgens in the adrenal gland. To date, seven types of CAH have been identified, which are distinguished from each other according to the affected enzyme, with 21β-hydroxylase deficiency being the most common form, accounting for 95% of cases, affecting 1 in every 7,635 live births in Mexico, and can fortunately be detected through neonatal screening. In the classical 21β-hydroxylase deficiency, there is intrauterine hyperandrogenism that causes virilization of the external genitalia in females, and due to the deficiency of cortisol and aldosterone, it can trigger (without proper management) an adrenal crisis that can lead to the patient's death. We present the case of a preschool female patient with the classic form and salt-losing variety who, on abandoning her treatment, developed virilization of her genitalia and an adrenal crisis. In the hospital, her condition was identified, and appropriate management was provided by correcting electrolyte imbalances and administering stress-dose hydrocortisone. She was hospitalized and monitored for her electrolyte levels until they stabilized, maintenance treatment was prescribed, and she was referred to the High Specialty Medical Unit (UMAE) for continued specialized care.


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