Trends in diagnostics and treatment of congenital adrenal hyperplasia

Jana Milenković; Tatjana Milenković; Katarina Sedlecki; Vladimir Kojović; Predrag Ilić; Jelena Martić; Slađana Todorović; Katarina Mitrović; Marko Marjanović; Jovana Tončev; Sanja Panić-Zarić; Rade Vuković

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases caused by a deficiency of enzymes responsible for the steroidogenesis. The most common cause is 21-hydroxylase deficiency. There are three forms of CAH due to 21-hydroxylase deficiency: the classic form with salt loss, the classic virilizing and the non-classical form. In pediatric age, CAH is most often manifested by masculinization of the genitals of female newborns, adrenal crisis or premature puberty. Therapy is based on hormone replacement with hydrocortisone and fludrocortisone. The aim of present study was to analyse changes in the diagnosis and treatment of children with CAH in our centre during previous 15 years. This retrospective cohort study included patients who were diagnosed with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in the period from 2007-2021 in endocrinology service of the Mother and Child Health Care Institute of Serbia "Dr Vukan Čupić". Specifics about disease diagnosis, hormone treatment and genital surgery were collected. 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 Hi-square and Mann Whitney U test was conducted using software, IBM SPSS ver. 22 ’’, and P values <0.05 were considered significant. Of a total of 55 patients included in the study, 46 patients (83.6%) had 46XX karyotype. The diagnosis was made in all patients on the base of corticotropin stimulation test. In the second group diagnosis was confirmed by genetic analysis in statistically significantly higher number of children compared to children from the first group who underwent genetic analysis. 49 patients (89.1%) received hydrocortisone therapy and 16 patients received fludrocortisone therapy. In the second group all of the patients with classic form of CAH received fludrocortisone with hydrocortisone, which is statistically significant result. In the second group of patients, genital surgery was performed at later age compared to the first group. In the first group of patients, the mean age at which genital surgery was performed was 9.6 months, while in the second group, the mean age at the time of first genital surgery was 2.2 years. The presented study findings revealed significant changes regarding the diagnosis and treatment of children with CAH in our tertiary center during the previous 15 years, highlighting the need for constant improvement of care for children with congenital adrenal hyperplasia.

ESPE Abstracts

P2-12