Caracterização clínica e molecular de famílias com hiperplasia adrenal congênita no Sistema Único de Saúde em Alagoas

Abstract

Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is an inborn error of autosomal recessive metabolism. The clinical form depends on the degree of residual 21-hydroxylase (21OH) activity. CAH-21OHD was incorporated into the National Neonatal Screening Program in Brazil in 2012 and implemented in the Unified Health System of Alagoas (SUS-AL) in 2016, with patients referred to the Neonatal Screening Reference Service at Casa do Pezinho. Before the National Neonatal Screening Program, since 2008, affected individuals from SUS-AL have been monitored at the multidisciplinary Disorders of Sex Development outpatient clinic at the University Hospital of the Federal University of Alagoas. Both services are a reference in the care of patients with CAH-21OHD in SUS-AL. The study aims to describe the clinical-molecular profile of CAH-21OHD in SUS-AL, based on the composition of a unique database. For this, patients treated from 03/2008 to 02/2022 in both services, with a clinical-laboratory diagnosis of CAH-21OHD, were included. Data were collected from medical records and molecular analysis reports of the CYP21A2 gene. A descriptive analysis of the sample was carried out, with frequency distribution and measures of central tendency and dispersion. The database was composed of 45 patients distributed in 40 families, the majority from the countryside of AL (75.0%) and 19.5% reported consanguinity. The age at the first consultation ranged from 4 days of age to 34 years and 72.7% had genital ambiguity. The Salt-Wasting Classic Form (SW-CL) was the most common, with the c.290- 13A/C>G variant being the most prevalent, followed by p.Ser170Lisfs*125. A novel-variant p.Ser301Pro was identified. Four patients died due to adrenal crisis, one of them, screened by the National Neonatal Screening Program, died before the result was released. The data presented here are in accordance with the literature, where the SW-CL form is more frequent, with a higher prevalence of the c.290-13A/C>G variant. However, the high frequency of the p.Ser170Lisfs*125 variant, considered rare, provides evidence of a possible founder effect. The need to decentralize services to the countryside of the state is evident. Deaths due to adrenal crisis have reduced substantially, but there is still a need to improve the flow of the service. The recognition of these characteristics is important both at the individual and collective levels, supporting the construction of specific health policies for these patients.