Deficiency of the short stature homeobox-containing (SHOX) gene is a frequent cause of short stature in children (2-15%). Here, we report 7 siblings with SHOX deficiency due to a point mutation in the SHOX gene. Index case was a 3-year-old male who presented for evaluation of short stature. His past medical history and birth history were unremarkable. Family history was notable for multiple ind...

Madelung's deformity (MD) occurs as a result of premature closure the medial and volar aspects distal radial physis.1 It is more frequent severe in girls, usually develops middle/late childhood.2 MD one most characteristic features he short-stature homeobox gene (SHOX) deficiency, which causes short stature3. Radial bowing well-known radiological futures. On other hand, there are three typical ...

BACKGROUND Asian-specific single nucleotide polymorphism (SNPs) (rs3782886) is reported to be associated with myocardial infarction; sarcopenia is reported to be associated with coronary subclinical atherosclerosis. On the other hand, short stature has been revealed as an independent risk factor for cardiovascular disease. However, no studies have reported on the association between sarcopenia ...

OBJECTIVE To describe the prevalence of short stature among children of Karapotó ethnic background. METHODS Cross-sectional, population-based study that included children between 6 and 59 months of age from the Plak-Ô native village and the Terra Nova settlement, São Sebastião, Alagoas, carried out between 2008 and 2009. Short stature was evaluated by the Height/Age index, using as cutoff z s...

background: thalassemia is the most common hereditary anemia and beta thalassemia major is its most severe form. endocrine abnormalities in thalassemia major are common disturbing complications that need prompt management. the purpose of this study was to determine the endocrine disorders and bone mineral density in patients with major -thalassemia in qazvin, iran. methods: in this cross- secti...

OBJECTIVE To determine the frequency of common causes of short stature in children presenting to the Children's Hospital & the Institute of Child Health, Multan. METHODOLOGY This cross sectional study was done in Pediatric Endocrinology department, the Children's Hospital & the Institute of Child Health, Multan, from March to September, 2011. One hundred and sixty nine children with short sta...

V. Conditions Associated with Genetic IGF-I Resistance in Humans A. African Efe Pygmies B. Leprechaunism and other genetic disorders associated with severe insulin resistance C. Deletions of the distal arm of chromosome 15 D. Rare examples of “idiopathic” short stature associated with elevated circulating levels of IGF-I VI. Conditions Associated with Acquired IGF-I Resistance in Humans A. HIV-...