Congenital adrenal hyperplasia: a difficult clinical case
Year: 2025
Type: article
Study design: Case Report
Abstract: Congenital adrenal hyperplasia (CAH) is a hereditary endocrine disorder caused by deficiencies in steroidogenic enzymes, resulting in impaired synthesis of cortisol and aldosterone. It is a recognized cause of disorders of sex development in children, characterized by discordance between genetic, gonadal, and phenotypic sex. The most common etiology of CAH is 21hydroxylase deficiency (accounting for 90—95 % of cases), caused by mutations or deletions in the CYP21A gene, and clinically manifested as saltwasting, simple virilizing, or nonclassical forms. The condition exhibits considerable clinical variability and requires an individualized therapeutic approach; symptoms depend on the specific form and the extent of enzymatic deficiency. In neonates, severe forms of CAH can be lifethreatening. Pediatric management focuses on supporting normal physical and sexual development, particularly during early childhood. Both overtreatment and undertreatment with hormone replacement therapy may lead to adverse health outcomes. The presented clinical case illustrates delayed diagnosis, therapeutic challenges, and difficulties in monitoring a child with the saltwasting form of CAH, which led to serious complications including electrolyte imbalance, arterial hypertension, growth retardation, heart failure, and cognitive impairment. Effective management of CAH requires a multidisciplinary approach, starting with neonatal screening and continuing with personalized treatment and ongoing monitoring throughout the stages of child development. This strategy is essential to prevent diseaserelated complications, reduce polypharmacy and mitigate the risk of adverse outcomes associated with inadequate therapy, thereby improving the overall quality of life for affected patients.
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4410160802