Assessment of cardiovascular risk in patients with the non-classical form of congenital adrenal hyperplasia, with emphasis on the functionality of the HDL particle, based on specific therapeutic modalities

• Grant number: 23/16302-8
• Support Opportunities: Scholarships in Brazil - Doctorate (Direct)
• Start date: June 01, 2024
• End date: May 31, 2028
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Tania Aparecida Sartori Sanchez Bachega
• Grantee: Jéssica Me Lin Ie
• Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil
• Associated research grant: 19/26780-9 - Molecular and epigenetic research on Differences in Sexual Development (DSD): impact of scientific diffusion on the relationship between science and society, AP.TEM

Abstract

Introduction: the non-classical form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency is one of the most frequent genetic diseases, characterized by hyperandrogenic manifestations in childhood, adolescence and/or adulthood. In this last period, it is a common cause of menstrual changes, hirsutism and infertility, which significantly compromise the quality of life of these patients. It has a high prevalence, from 1:500 to 1:1000 individuals in the Caucasian population. Treatment in adulthood aims to control hyperandrogenism, and Endocrine Society guidelines do not make it clear whether the use of glucocorticoids or anti-androgenic medications would be ideal therapy. Both exposure to glucocorticoids and androgens can have clinical consequences, and the impact on cardiovascular risk needs to be defined. The available evidence in this group of patients is still very limited. Objectives: to determine the cardiovascular risk in patients with non-classical CAH, through the functionality of HDL and insulin resistance, according to the therapeutic modality: use of glucocorticoids or symptomatic medications. Case series and methods: 40 adult patients with non-classical CAH, aged 33 ± 9 years, will be evaluated, followed in a single center; 20 patients have had a homogeneous treatment regimen with glucocorticoids since diagnosis, and will be compared with another 20 patients using oral contraceptives, in addition to 20 healthy controls matched for age and BMI. Cardiovascular risk will be assessed using methods not yet studied in this pathology, such as the analysis of HDL particle functionality and insulin resistance, using the revised QUICKI method. Relevance of the work: the results of this research will contribute to filling a gap in the literature on the cardiovascular risk of non-classical CAH, analyzing the impact of specific therapies in an innovative way. This project differs from others by presenting a homogeneous case series in relation to therapeutic schemes and bringing an unprecedented methodology. The results will help with still controversial issues regarding therapeutic decisions, and will probably contribute to improving the quality of life of these patients.