Changes in diagnosis and treatment of congenital adrenal hyperplasia - tertiary center experience

Abstract

Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases caused by deficiency of enzymes responsible for the steroidogenesis. The most common cause of CAH is 21-hydroxylase deficiency, which presents in three forms: the classic form with salt loss, the classic virilizing and the non-classical form. Aim of this paper was to analyze 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 in the period from 2007- 2021 in the endocrinology department of the Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic". Subjects were divided into a group whose diagnosis was made in period from 2007-2014 and another group of those whose diagnosis was made from 2015-2021. Statistical analysis using Chi-square and Mann Whitney U test was conducted using software “IBM SPSS ver. 22”, and p values <0.05 were considered significant.

Results: Of a total of 55 patients included in the study, 46 patients (83.6%) had 46XX karyotype. In all patients, the diagnosis was made based on the findings of biochemical analyses. In the second group, the diagnosis was also confirmed by a genetic analysis in significantly higher number of children (p <0.05). In patients from 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.