Congenital adrenal hyperplasia: a difficult clinical case

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.