Banca de DEFESA: CAMILA MAIA COSTA DE QUEIROZ SOUTO

Uma banca de DEFESA de MESTRADO foi cadastrada pelo programa.
STUDENT : CAMILA MAIA COSTA DE QUEIROZ SOUTO
DATE: 14/11/2023
TIME: 14:00
LOCAL: googlemeet
TITLE:

Clinical and molecular characterization of families with Congenital Adrenal Hyperplasia in the Brazilian Unified Health System of Alagoas

KEY WORDS:

Congenital Adrenal Hyperplasia

21-hydroxylase deficiency

National Neonatal Screening Program

PAGES: 58
BIG AREA: Ciências Biológicas
AREA: Genética
SUBÁREA: Genética Humana e Médica
SUMMARY:

Introduction: Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is an inborn error of autosomal recessive metabolism. The clinical form depends on the 21OH residual enzymatic activity. The classic salt-wasting form (CL-PS) causes homeostatic imbalance, leading to death in the neonatal period if not identified and treated in time. HAC-21OHD was incorporated into the National Neonatal Screening Program (PNTN) in Brazil in 2012 and implemented in the Brazilian Unified Health System of Alagoas (SUS-AL) in 2016 and the screened patients are referred to a multidisciplinary team at the reference service of neonatal screening (Serviço de Referência em Triagem Neonatal – SRTN), linked to the Santa Monica Maternity Hospital of the Health Sciences State University of Alagoas (SRTN/MESM/UNCISAL). Before the PNTN, since 2008, CAH patients from SUS-AL have been followed up at the Clinical Genetics Service of the Professor Alberto Antunes University Hospital of the Federal University of Alagoas (SGC/HUPAA/UFAL). Both services are a reference in the care of patients with HAC-21OHD in SUS-AL. Objective: To describe the clinical-molecular profile of HAC-21OHD in SUS-AL, based on the composition of a unique database. Methods: Patients treated from 03/2008 to 02/2022 in both services, with HAC-21OHD clinical and laboratory diagnosis, were included. Data were collected from medical files and molecular reports of CYP21A2 gene analysis. Case series descriptive analysis was performed, with frequency distribution and measures of central tendency and dispersion. Results: The unique database consisted of 45 patients distributed in 40 families, most from the interior of AL (71,1%), and 17,5% reported consanguinity. The age at the 1st consultation ranged from 7 days to 43 years old and 68,2% had genital ambiguity. The CL-PS form was the most frequent, with the c.290-13A/C>G variant being the most prevalent, followed by p.Ser170Lisfs*125. Four patients died from adrenal crisis, one of them, screened by the PNTN, died before the results were published. Conclusion: The data presented here are in accordance with the literature, where the CL-PS 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 for decentralization of services to the interior of the state is evident. Deaths from the adrenal crisis have substantially reduced, but there is still a need to improve the flow of service. The recognition of these characteristics is important both at the individual and at the collective level, supporting the construction of specific health policies for these patients.

COMMITTEE MEMBERS:
Interno(a) - 1627935 - AUXILIADORA DAMIANNE PEREIRA VIEIRA DA COSTA E SILVA
Externo(a) ao Programa - 3443233 - IRAMIRTON FIGUEREDO MOREIRA - nullExterno(a) à Instituição - JOSE ROBERTO DE OLIVEIRA FERREIRA
Interno(a) - 3621153 - JULIANA CELIA DE FARIAS SANTOS
Presidente - 1108003 - REGINALDO JOSE PETROLI