No abstract

Unwanted events of systemic steroids (SS) could be predicted by genetic testing for predisposition to the steroid induced osteoporosis. The current study was designed to investigate association between TaqI polymorphism of the vitamin D receptor gene (VDR), bone mineral densi ty (BMD) and rate of vertebral and extravertebral fractures in patients with severe asthma and long term steroid therapy. The study involved 54 patients (15 males, 39 premenopausal females aged up to 50 years). BMD was measured at lumbar spine and proximal femur using dual X ray absorptiopmetry (Hologic QDR 4500A). Frequencies of TT, Tt and tt genotypes, T and t alleles of the VDR gene (TaqI polymor phism) were analyzed by the RFLP method. The patients with the tt genotype had lower BMD and higher frequency of fractures as compared to the careers of TT or Tt genotypes (p < 0.001) independently on age, daily and cumulative steroid doses, and duration of SS treatment. Testing for the VDR gene polymorphism is thought to allow detection patients at greater risk of steroid induced osteoporosis.

Clinical manifestations of heterogeneity of growth hormone deficiency when definitive results of hormonal stimulus test determines the need to search for molecular genetic markers of the disease to form personalized therapeutic algorithms. Molecular genetic analysis in patients with congenital hypopituitarism was carried out by new-generation sequencing (NGS) with "Amplisek" technology. All patients with congenital hypopituitarism, who are in a special registry of Saint Petersburg, were included in this study. differences in the frequency of detection of mutations in patients with multiple anterior pituitary hormone deficiency and in patients with isolated growth hormone deficiency were found. The mutation frequency of diagnosis in genes responsible for congenital hypopituitarism in patients of St. Petersburg were studied.Mutations in genes associated with congenital hypopituitarism were identified in 16.3% of patients with pituitary dwarfism (16 of 98). The most commonly diagnosed mutations are changes in gene PROP1. In carrying out the molecular genetic studies of patients with congenital hypopituitarism is necessary to consider the likelihood of the presence of these rare pathologies such as loss of genes GHSR, ARNT2, BTK. Currently conducting molecular genetic studies in patients with congenital hypopituitarism further predicts development of the disease and, if necessary, adjust the ongoing replacement therapy.