Resumo

CEBALLOS-DOSANTOS, Ana Maria et al. Adrenal and renal decompensation in an adolescent with untreated congenital adrenal hyperplasia. A case study. Pediatr. (Asunción) [online]. 2026, vol.53, n.1, pp.100-104. ISSN 1683-9803.  https://doi.org/10.31698/ped.53012026013.

Congenital adrenal hyperplasia comprises a series of inherited disorders that affect cortisol synthesis, leading to excessive prenatal adrenal androgen production and virilization of the external female genitalia. Based on the enzyme deficiency, seven clinical forms are known, the most frequent being 21-hydroxylase deficiency, caused by mutations in the CYP21A2 gene. The predominant clinical manifestation is primary adrenal insufficiency. Treatment consists of administering glucocorticoids and mineralocorticoids to prevent adrenal crisis and the morbidity and mortality associated with hypovolemic shock. This also aims to reduce androgen levels and the degree of virilization. We report the case of a 15-year-old girl who, due to lack of access to treatment caused by socioeconomic problems, experienced complications from salt-wasting crisis. The importance of early diagnosis and management is highlighted to prevent serious complications and mortality associated with adrenal crises.

Palavras-chave : Congenital adrenal hyperplasia; disorders of sexual development; glucocorticoids; mineralocorticoids; virilism.

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