Type 1 diabetes mellitus associated with autoimmune thyroid disease, celiac disease and familial Mediterranean fever: case report

It is known that type 1 diabetes mellitus (type 1 DM) may be associated with other autoimmune diseases. Recently, a patient with an association of type 1 DM and familial Mediterranean fever (FMF) was reported in the medical literature

Successful Results of Pamidronate Treatment in Children With Osteogenesis Imperfecta With Emphasis on the Interpretation of Bone Mineral Density for Local Standards

Aim: To assess the long-term effect of pamidronate therapy on bone mineral metabolism and bone mineral density (BMD) in children with osteogenesis imperfecta (OI) and to evaluate BMD results with respect to national standards

Insulin resistance and body composition in preterm born children during prepubertal ages

Background Premature born children may show insulin resistance in childhood which may be due to intrauterine or postnatal adverse environmental factors

Insulin resistance and body composition in preterm born children during prepubertal ages.

Background Premature born children may show insulin resistance in childhood which may be due to intrauterine or postnatal adverse environmental factors

The Exon 3-Deleted/Full-Length Growth Hormone Receptor Polymorphism and Response to Growth Hormone Therapy in Growth Hormone Deficiency and Turner Syndrome: A Multicenter Study

WOS: 000302876400002PubMed ID: 22456308Background/Aim: The exon 3-deleted/full-length (d3/fl) growth hormone (GH) receptor (GHR) polymorphism has been associated with responsiveness to GH therapy in some diagnostic groups. However, there are still controversies on this issue. To evaluate the effect of the GHR exon 3 polymorphism on growth after 1 and 2 years of GH therapy in Turkish patients with GH deficiency (GHD) and Turner's syndrome (TS) and the distribution of GHR exon 3 isoforms. Materials and Methods: 218 patients with GHD (125 males/93 females) and 43 patients with TS were included in the study. The control group included 477 healthy adults aged from 18 to 57 years (54 females/423 males). Anthropometric parameters and insulin-like growth factor (IGF)-1 and IGF binding protein (IGFBP)-3 were evaluated annually. GHR isoforms were studied using simple multiplex PCR. Height and body mass index were expressed as standard deviation score (SDS). Results: There were no differences among TS, GHD and healthy adults regarding the distribution of GHR exon 3 isoforms (fl/fl, fl/d3 and d3/d3). There was a significant increase in height SDS in both diagnostic groups on GH therapy; however, there were neither differences in height SDS and Delta height velocity between fl/fl, fl/d3 and d3/d3 groups nor a correlation between the distribution of GHR exon 3 isoforms and change in IGF-1 SDS and IGFBP-3 SDS levels on GH therapy in either of the diagnostic groups. There was also no gender difference in GHR isoforms in healthy adults. Conclusion: The results suggest that responsiveness to GH therapy does not depend on the exon 3 GHR genotypes in GHD and TS patients. Copyright (C) 2012 S. Karger AG, BaselUniversity of IstanbulIstanbul University [1415/2007]This work was supported by the Scientific Research Project Coordination Unit of the University of Istanbul (project No. 1415/2007)