Bruck syndrome - a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation.

Bruck syndrome is an autosomal recessive syndrome consisting of bone fragility and congenital joint contractures. According to the genotype, it has been classified into types 1 and 2. Recently, mutations in FKBP10, localised to chromosome 17q21, have been identified in some patients of Bruck syndrome.

Effect of pubertal suppression on linear growth and body mass index; a two-year follow-up in girls with genetic short stature and rapidly progressive puberty.

Objective: Gonadotropin-Releasing Hormone agonists (GnRHa) are used to improve the final adult height in short stature children. There are limited studies which address the potential side effect of these agents: excessive weight gain. We have followed girls with rapidly progressive puberty receiving GnRHa and results were focused on the effect of treatment on final height, weight and body mass index Methods: Thirty girls between 8.

Cardiovascular involvement in children with osteogenesis imperfecta.

Objective: Osteogenesis imperfecta is a hereditary disease resulting from mutation in type I procollagen genes. One of the extra skeletal manifestations of this disease is cardiac involvement. The prevalence of cardiac involvement is still unknown in the children with osteogenesis imperfecta.

The side effects of gonadotropin releasing hormone analog (diphereline) in treatment of idiopathic central precocious puberty.

Treatment of central precocious puberty (CPP) is the administration of GnRH analogs. Metabolic syndrome comprised metabolic disturbances that confer increased risk of (CVD) diabetes mellitus (DM) and cardiovascular disease. This study is a longitudinal prospective study in pediatric endocrinology clinic.

Does congenital hypothyroidism have different etiologies in iran?

Objective: To determine the prevalence of congenital hypothyroidism (CH), permanent and transient CH.

Methods: From November 2006 to September 2007, 63031 newborns were screened by measuring serum TSH obtained by heel prick. The neonates who had a TSH≥5mU/L were recalled for measurement of serum T(4), thyroid stimulating hormone (TSH) and TSH receptor blocking antibodies (TRBAb) in venous samples.

The role of insulin like growth factor (IGF)-1 and IGF-binding protein-3 in diagnosis of Growth Hormone Deficiency in short stature children.

Objective: The purpose of this study was to evaluate the role of IGF-1 and IGFBP-3 in diagnosis of short stature children and adolescents in whom Growth Hormone Deficiency (GHD) was found.

Methods: In this cross sectional study the referred short stature children and adolescents to Namazi Hospital in Shiraz- Iran, in 2003-2005 were studied. The inclusion criteria were proved short stature based on the physical examination, weight, height, standard deviation score (SDS) of height < -2, with considering stage of puberty and predicted height in children without any genetic or chronic disorders.

Reduced insulin growth factor I concentrations in iron-overloaded beta thalassaemic patients with normal growth hormone secretion and liver function.

We selected 92 subjects (46 females and 46 males), aged 10-15 years, from the Haematology and Endocrine Clinic of Shiraz University, Iran. Forty-six were beta thalassaemia patients (beta-Th) with short stature, 23 had idiopathic short stature (ISS) and 23 were healthy children with a standing height between the 10th and 95th percentile. Growth hormone (GH) secretion was normal in 23 beta-Th patients and reduced in the remaining 23 patients.