الفهرس 
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Abstract
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) is a common autosomal recessive disorder caused by mutations in the CYP21A2 gene, which encodes 21-hydroxylase (an enzyme involved in aldosterone and cortisol biosynthesis). Polymorphism of GR gene: Glucocorticoid receptor (NR3C1) gene polymorphisms are linked with increased BMI, blood pressure and lipid levels and, consequently, increased cardiovascular risk. Recent studies have suggested that A3669G carriers have an increased pro-inflammatory state and an increased risk for cardiovascular disease. Aim of the work : The aim of study was to evaluate the influence of GC receptor gene NR3C1(rs1698) polymorphism on the metabolic profile in a series of pediatric patients with congenital adrenal hyperplasia due to classic form of 21-hydroxylase deficiency (21OHD). methedology : Anthropometric parameters : including Height, weight, Body mass index (BMI). Weight, Height, and BMI Z-scores of all participants were calculated based on standard values for Egyptian cases. Height age (HA) were determined for CAH patients. summary of result. The results of the current study revealed that among studied CAH cases (n=40), 19 (47.5%) patients were obese of whom 14 (73.7%) patients fulfilled the diagnostic criteria of MetS according to Adult Treatment Panel III (ATP III) criteria modified for the pediatric age group. There were significantly higher SBP, DBP, hydrocortisone dose, 17-OH progesterone level, BMI z-score, waist circumference, fat %, fat mass (FM), fat free mass (FFM), trunk fat mass, appendicular fat mass, trunk to appendicular FM ratio, FM/FFM ratio, TG, LDL, insulin level, and HOMA-IR values in obese CAH group compared to non-obese CAH group. In addition, high percentage of cases with detected insulin resistance and diagnosed metabolic syndrome were found inobese CAH group compared to non-obese CAH group. There were no significant differences between both groups as regard level of disease control or the diagnosis of hypertension. There were significantly higher BMI Z-score and LDL values in AG+GG genotype group compared to AA genotype group. Otherwise no other significant could be detected.