Cited by 38Sexual Differentiation and DisordersAdrenal Hormones and DisordersOvarian function and disorders

Impact of glucocorticoid receptor gene polymorphisms on the metabolic profile of adult patients with the classical form of 21-hydroxylase deficiency

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Moreira, Ricardo P. P., Gomes, Larissa G., Mendonca, Berenice B., Bachega, Tânia A. S. S.·2012·PLoS ONE

Abstract

BACKGROUND: CAH patients have an increased risk of cardiovascular disease, and it remains unknown if lifelong glucocorticoid (GC) treatment is a contributing factor. In the general population, glucocorticoid receptor gene (NR3C1) polymorphisms are associated with an adverse metabolic profile. Our aim was to analyze the association between the NR3C1 polymorphisms and the metabolic profile of CAH patients. METHODOLOGY: Sixty-eight adult patients (34SV/34SW) with a mean age of 28.4±9 years received dexamethasone (mean 0.27±0.11 mg/day) to obtain normal androgen levels. SW patients also received fludrocortisone (50 µg/day). Metabolic syndrome (MetS) was defined by the NCEP ATPIII criteria and obesity by BMI ≥30 kg/m². NR3C1 alleles were genotyped, and association analyses with phenotype were carried out with Chi-square, t-test and regression analysis. RESULTS: Obesity and MetS were observed in 23.5% and 7.3% of patients, respectively, and were not correlated with GC doses and treatment duration. BMI was positively correlated with blood pressure (BP), triglycerides (TG), LDL-c levels and HOMA-IR and inversely correlated with HDL-c levels. BclI and A3669G variants were found in 26.4% and 9.6% of alleles, respectively. Heterozygotes for the BclI polymorphism presented with higher BMI (29 kg/m²±5.3 vs. 26 kg/m²±5.3, respectively) and waist circumference (89 cm±12.7 vs. 81 cm±13, respectively) compared to wild-type subjects. Hypertension was found in 12% of patients and heterozygotes for the BclI polymorphism presented higher systolic BP than wild type subjects. Low HDL-c and high TG levels were identified in 30% and 10% of patients, respectively, and were not associated with the NR3C1 polymorphisms. A3669G carriers and non-carriers did not differ. CONCLUSION: In addition to GC therapy, the BclI GR variant might play an important role in obesity susceptibility in CAH patients. Genotyping of GR polymorphisms could result in the identification of a subgroup at risk patients, allowing for the establishment of personalized treatment and the avoidance of long-term adverse consequences.

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  • QT interval duration was shorter in women with CAH than in control women.

    “QT interval duration was shorter in women with CAH than in control women (685).”

    From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [685]

    The Results table reports metabolic measures for women and men with CAH, not QT intervals or a comparison with control women. Searches for QT interval and electrocardiogram findings found no passage addressing the claim in our copy. (LLM, conf=0.76)

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  1. [24]Nakazone MA, Pinheiro A, Braile MC, Pinhel MA, de Sousa GF, et al (2007) [Prevalence of metabolic syndrome using NCEP-ATPIII and IDF definitions in Brazilian individuals]. Rev Assoc Med Bras 53: 407– 413. 17952349

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Authors
Moreira, R. P. P., Gomes, L. G., Mendonca, B. B., & Bachega, T. A. S. S.
Affiliations
Universidade de São Paulo (BR)
Corresponding author
Moreira, Ricardo P. P.
Venue
PLoS ONE
Published
2012-09-18
Volume
7
Issue
9
Pages
e44893
ISSN
1932-6203 (ISSN-L)
OpenAlex
W1968912786
Cited by
38
References
38
Citations by year
2025: 3 · 2024: 1 · 2023: 3 · 2022: 4 · 2021: 5 · 2020: 1 · 2019: 1 · 2018: 4 · 2017: 4 · 2016: 3 · 2015: 4 · 2014: 3 · 2013: 2
FWCI
1.16
Type
journal article
Language
en
Open access
Locations
  • PLoS ONE (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders
  • Fundação de Amparo à Pesquisa do Estado de São Paulo (09/54238-2, 09/54394-4)
  • Conselho Nacional de Desenvolvimento Científico e Tecnológico (09/54238-2, 09/54394-4, 2008-9)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
  • Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
Keywords
21-hydroxylase deficiency, congenital adrenal hyperplasia, glucocorticoid receptor gene, BclI polymorphism, metabolic syndrome, obesity, hypertension, lipid profile, insulin resistance, dexamethasone, fludrocortisone, glucocorticoid therapy
MeSH terms
Adrenal Hyperplasia, Congenital, Adult, Blood Pressure, Female, Heterozygote, Humans, Male, Obesity, Polymorphism, Genetic, Receptors, Glucocorticoid, Biomarkers, Body Mass Index, Metabolic Syndrome, Waist Circumference, Metabolome

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