Kongenitalna adrenalna hiperplazija udružena sa mentalnim poremećajima - prikaz slučaja

Abstract

Introduction: Congenital adrenal hyperplasia (CAH) is an inherited autosomal recessive disorder characterized by a defect in the synthesis of steroid hormones of the adrenal cortex. This defect results in elevated serum androgen levels. Androgens have been shown to have a significant effect on the developing brain during prenatal and postnatal period, which can lead to impaired neurocognitive functioning and contribute to the development of psychiatric disorders. The aim: In this paper, we will present a patient with CAH who developed serious psychiatric problems during adolescence. The aim of this case report is to discuss a possible connection between these two conditions and to consider possible diagnostic and therapeutic interventions. Case report: The patient was diagnosed with the classic form of CAH at birth. After months of corticosteroid substitution therapy, the patient was surgically treated at 7 months of age with vaginoplasty and clitoroplasty. The patient developed serious psychiatric problems from the depressive-anxiety spectrum in the early adolescent period, followed by impaired impulse control and aggression. This report illustrates the diagnostic and therapeutic interventions conducted at the Clinical Department for Children and Adolescents of the Institute of Mental Health. Conclusion: Given the abundant evidence on the impact of CAH on cognitive ability and psychosocial functioning, it is necessary to develop and implement complementary multidisciplinary diagnostic and therapeutic interventions in these patients. Such interventions would aim to prevent the onset of psychiatric comorbidities and consequently improve the quality of life and functionality of these patients.