BACKGROUND The deficiency of SHOX gene (short stature homeobox-containing gene) has been recognized as the most frequent monogenetic cause of short stature. SHOX gene has been associated with short stature in Turner syndrome and Leri Weill dyschondrosteosis as well with non-syndromic idiopathic short stature. The aim of this study was to determine the frequency of SHOX deletions and mutations i...

objective prader-willi syndrome (pws) is a genetic syndrome presenting with severe hypotonia and decreased agility. growth hormone (gh), which is often used in these patients to treat short stature and obesity, seems improve hypotonia, physical strength, activity, and locomotor developmental ability. the aim of this study was to find the effects of growth hormone on agility and strength of thes...

BACKGROUND We studied an unusual combination of severe short stature, mesomelia (Leri-Weill dyschondrosteosis syndrome), and multiple exostosis in several family subjects over three generations. The pattern of inheritance was compatible with autosomal dominant. METHODS Of 21 affected members over three generations, shortness of stature, associated with mesomelia resembling Leri-Weill dyschond...

Results CDC: the children are 74% short; 26% normal stature (median: 109 cm), 21.9% underweight; 69.4% normal weight; 6.1% overweight; and 2.6% obese (median: 18 kg). WHO: 72.4% of the children are normal stature; 20.9% stunted; 6.6% severely stunted, 84.7% normal weight; 6.6% risk of overweight; 6.6% wasted; 1% overweight; 0.5% obese; 0.5% severe wasted. Conclusions To interpret the growth sta...

Longitudinal growth assessment is essential in child care. Short stature can be promptly recognized only with accurate measurements of growth and critical analysis of growth data. The objective of this study was to determine the pattern of short stature among patients referred to an endocrine pediatric clinic, King Khalid University Hospital (KKUH), Riyadh, Saudi Arabia and to ascertain the aet...

Background: Short children face many problems throughout their lives. Consumption of growth hormone and the drugs such as Letrozole, Oxandrolone, and Anastrozole can increase the growth of children and adolescents. There is not an overall estimate of the effects of Letrozole, Oxandrolone, and Anastrozole on the growth of children and adolescents with Idiopathic Short Stature (ISS). There are di...

FGFR3 (fibroblast growth factor receptor 3) is a gene responsible for the most common form of osteodysplasia, achondroplasia, which results in extreme short stature. An allelic disorder, hypochondroplasia, however, presents with a much milder phenotype and is sometimes indistinguishable from idiopathic short stature. In this study, in order to test the possibility of the mildest end of hypochon...

Human growth has an estimated heritability of about 80%-90%. Nevertheless, the underlying cause of shortness of stature remains unknown in the majority of individuals. Genome-wide association studies (GWAS) showed that both common single nucleotide polymorphisms and copy number variants (CNVs) contribute to height variation under a polygenic model, although explaining only a small fraction of o...