The BclI, N363S, ER22/23EK and A3669G polymorphisms of the GR gene probably do not modify the risk for the development of CD or ACS. Contrary to healthy subjects, however, the BclI polymorphism may modify the skeletal sensitivity to glucocorticoids in patients with endogenous glucocorticoid excess.

No abstract

No abstract

It has been shown that women who gained an excessive weight during pregnancy had an increase in long-term BMI compared with those without an excessive weight gain. Several studies have demonstrated that some polymorphisms of the glucocorticoid receptor (GR) gene may influence body composition and metabolic parameters. In the present study, we wanted to explore whether any association could exist between the BclI, N363S and ER22/23EK polymorphisms of the GR gene and the weight gain during pregnancy. We found that the allelic frequencies of the BclI, N363S and ER22/23EK polymorphisms in 300 women with uncomplicated pregnancies were similar to those measured in healthy Hungarian population. None of the three polymorphisms associated with body weight or BMI at the 1st trimester of pregnancy or before delivery. However, a significantly lower weight gain (p = 0.044) and consequently lower increase of BMI during pregnancy (p = 0.044) was observed in heterozygous carriers of the ER22/23EK polymorphism. These results support a protective role of the ER22/23EK polymorphism against an excessive weight gain and excessive increase of BMI during uncomplicated pregnancy.

A 33-year-old primagravida with a history of polycystic ovary syndrome was referred because of symptoms of moderate hyperandrogenism. Serum hormone levels, measured regularly from the 7th week of pregnancy until delivery, showed very high increases of testosterone, androstenedione and estradiol. Ultrasound showed no evidence of adrenal or ovarian masses. She delivered a female newborn with normal female external genitalia. Umbilical cord hormone levels were normal, except for a modest increase of serum testosterone. After delivery the androgen levels of the mother returned to normal and the symptoms of hyperandrogenism were also slightly improved.