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.

Background/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.

The distribution of exon 3-deleted/full-length growth hormone receptor polymorphism in the Turkish population.

Objective: The exon 3-deleted/full-length (d3/fl) growth hormone receptor (d3/fl-GHR) polymorphism has been associated with responsiveness to GH therapy in some children and also with adult height variation in the general population. We aimed to evaluate the distribution of d3/fl-GHR polymorphism in a Turkish population.

Methods: The study included 477 (54 females/423 males) healthy adults with a mean±SD age of 31.

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. A 10.

A patient with 22q11.2 deletion syndrome: case report.

22q11 deletion is one of the most frequently encountered genetic syndromes. The phenotypic spectrum shows a wide variability. We report a boy who presented at age 11.

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.

Methods: Pamidronate was administered intravenously on 3 consecutive days every 3 to 4 months at a dose of 1 mg/kg/d in 35 patients. Infusion cycles ranged from 4 to 17.

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.

Objective: Aim of this study was to evaluate insulin resistance and body composition in preterm born children born appropriate for gestational age (AGA) or small for gestational age (SGA) and relations with IGF-I, IGFBP-3 axis.

Methods: Ninety-three preterm born children grouped as premature SGA (n = 30) and premature AGA (n = 63) were evaluated at age 4.

Hashimoto's encephalopathy in a ten-year-old girl.

Hashimoto's encephalopathy is a steroid-responsive, relapsing or progressive encephalopathy associated with thyroid autoantibodies. Age at presentation varies from 10 to 78 years. In children, Hashimoto's encephalopathy is rare, and seizures, confusion and hallucinations are the most commonly described features.

Follow-up height after discontinuation of growth hormone treatment in children with intrauterine growth retardation.

Growth hormone (GH) treatment has been used in children with intrauterine growth retardation (IUGR) to promote growth with success in several short- and long-term clinical trials. Intermittent GH therapy has also been advocated in children with IUGR. This study was designed to evaluate the growth of children with IUGR after discontinuation of a two-year trial of GH treatment.