Trends in diagnostics and treatment of congenital adrenal hyperplasia

Abstract

Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases caused by a deficiency of enzymes responsible for the steroidogenesis. There are three forms of CAH due to 21-hydroxylase deficiency: the classic form with salt loss, the classic virilizing and the non-classic form. The aim of the paper was to analyze the changes in the diagnosis and treatment of children with CAH during previous 15 years. Material and methods: This retrospective cohort study includes patients who were diagnosed with CAH due to 21-hydroxylase deficiency in the period from 2007 to 2021 in endocrinology department of the Institute for Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic". Respondents were divided into two groups - a group whose diagnosis was made in the period between 2007 and 2014 and another group of those whose diagnosis was made in the period between 2015 and 2021. Statistical analysis using Hi-square and Mann Whitney U test was conducted using the software IBM SPSS ver. 22, and p values <0.05 were considered significant. Results: Out of the total of 55 patients included in the study, 46 patients (83.6%) had 46, XX karyotype. The diagnosis was made in all patients on the basis of biochemical analyzes. In the second group the diagnosis was confirmed by genetic analysis in statistically significantly higher number of children (p <0.05). 49 patients (89.1%) received hydrocortisone and 16 patients received fludrocortisone. In patients from the second group a statistically significantly higher frequency of fludrocortisone therapy was noticed in patients with classic CAH. Conclusion: Having in mind the constant advancement in the field, frequent improvements in clinical care of children with CAH are needed.