Influence of the A3669G Glucocorticoid Receptor Gene Polymorphism on the Metabolic Profile of Pediatric Patients with Congenital Adrenal Hyperplasia.

[congenital adrenal hyperplasia]

Background . Pediatric CAH patients have an increased risk of cardiovascular disease , and it remains unknown if genetic predisposition is a contributing factor . Glucocorticoid receptor gene (NR 3 C 1 ) polymorphisms are associated with an adverse metabolic profile . Our aim was to analyze the association between the NR 3 C 1 polymorphisms and the metabolic profile of pediatric CAH patients . Methods . Forty -one patients (26 SW /15 SV ) received glucocorticoid (GC ) replacement therapy to achieve normal androgen levels . Obesity was defined by BMI ≥ 95 th percentile . NR 3 C 1 alleles were genotyped , and association analyses with phenotype were done with Chi -square , t-test , and multivariate and regression analysis . Results . Obesity was observed in 31 .7 % of patients and was not correlated with GC doses and treatment duration . Z-score BMI was positively correlated with blood pressure , triglycerides , LDL-c levels , and HOMA-IR . NR 3 C 1 polymorphisms , BclI and A 3669 G , were found in 23 .1 % and 9 .7 % of alleles , respectively . A 3669 G carriers presented higher LDL-c levels compared to wild-type subjects . BclI-carriers and noncarriers did not differ . Conclusion . Our results suggest that A 3669 G -polymorphism could be involved with a susceptibility to adverse lipid profile in pediatric CAH patients . This study provides new insight into the GR screening during CAH treatment , which could help to identify the subgroup of at -risk patients who would most benefit from preventive therapeutic action .

Diseases
Validation

Diseases presenting "blood pressure" symptom

acute rheumatic fever

adrenal incidentaloma

alpha-thalassemia

cadasil

congenital adrenal hyperplasia

congenital diaphragmatic hernia

cushing syndrome

fabry disease

familial mediterranean fever

lymphangioleiomyomatosis

pendred syndrome

proteus syndrome

scrub typhus

systemic capillary leak syndrome

thoracic outlet syndrome

typhoid

von hippel-lindau disease

werner syndrome

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