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Cardio-metabolic risk factors in patients with non classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Grant number: 18/10789-4
Support type:Regular Research Grants
Duration: December 01, 2018 - November 30, 2020
Field of knowledge:Health Sciences - Medicine
Principal Investigator:Lívia Mara Mermejo
Grantee:Lívia Mara Mermejo
Home Institution: Faculdade de Medicina de Ribeirão Preto (FMRP). Universidade de São Paulo (USP). Ribeirão Preto , SP, Brazil
Assoc. researchers:Ayrton Custodio Moreira

Abstract

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by a decrease in cortisol secretion due to deficiency of one of the five enzymes involved in its synthesis. CAH due to 21-hydroxylase deficiency (21OHD) is the most frequent of the adrenal enzymatic defects, accounting for 90-95% of cases. 21OHD is clinically classified into classic CAH, comprising the salt wasting (SW) and the simple virilization form (SV), and nonclassical CAH. The most characteristic biochemical abnormality of 21OHD CAH is the presence of high levels of 17-hydroxyprogesterone, the main substrate of the 21-hydroxylase enzyme, and also the increase of androgens. The treatment of 21OH CAH consists in the administration of glucocorticoid aiming the reduction of the hypersecretion of ACTH and the decrease of androgenic levels, and at the same time, to avoid signs of hypercortisolism. HAC 21OH is caused mainly by mutations in the pseudogene CYP21A1P, known as microconversions, but also by rare mutations and large gene rearrangements. In recent years, the diagnosis, treatment and follow-up of patients with 21OH CAH has improved significantly, especially after the introduction of molecular studies. However, the genotype-phenotype correlation does not occur in all cases and in clinical practice the management of these patients in the long term follow-up represents a great challenge to maintain adequate control with the lowest possible incidence of side effects such as short stature, low bone mineral density, obesity, dyslipidemia, hypertension, diabetes mellitus. Moreover, recent studies have highlighted that excessive weight gain in children with 21OH CAH results in a higher body mass index (BMI) in adulthood and a higher rate of complications. Thus, the objective of this study is to evaluate the genotype-phenotype and its correlation with the prevalence of clinical outcomes in children and adults with of 21OH CAH followed in the Division of Endocrinology of Clinical Hospital, Ribeirão Preto Medical School, University of Sao Paulo. (AU)