SHOX deficiency is a frequent cause of short stature. The short stature homeobox-containing gene resides in the telomeric PAR1 region on the short arm of both sex chromosomes and escapes X inactivation. For this review, abstracts of 207 publications presented by PubMed for the search term ‘SHOX’ were screened. Heterozygote SHOX mutations (80% deletions) were detected in 2–15% of individuals wit...

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...

The present paper addresses the question: why do some children of short stature develop psychologically well while others have problems? Based on the work of Wallander and Varni, a model is presented to illustrate risk as well as resistance factors that are important for children of short stature. It is suggested that important risk factors for the psychological adjustment of children of short ...

Aggrecan, a proteoglycan, is an important component of cartilage extracellular matrix, including that of the growth plate. Heterozygous mutations in ACAN, the gene encoding aggrecan, cause autosomal dominant short stature, accelerated skeletal maturation, and joint disease. The inheritance pattern and the presence of bone age equal to or greater than chronological age have been consistent featu...

BACKGROUND There was no large-scale population survey on the prevalence of short stature in Anhui province yet. To further acquainting the epidemiological character of teenage children short stature in Anhui province, and to provide basis for exploring reasonable intervention measure about children's height, we took this survey on short stature in primary and middle school students of Anhui pro...

Growth hormone (GH) therapy has been appropriate for severely GH-deficient children and adolescents since the 1960s. Use for other conditions for which short stature was a component could not be seriously considered because of the small supply of human pituitary-derived hormone. That state changed remarkably in the mid-1980s because of Creutzfeldt-Jakob disease associated with human pituitary t...

The axiom that diagnosis must precede treatment holds true for the management of short stature. What matters is the current rate of growth and the potential for further growth; it is essential to measure accurately the rate of gain in height and the radiological bone age. Early detection of subnormal rate of growth can lead to prevention of dwarfism, but a dwarf with epiphyses closed is beyond ...

Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH)/insulin-like growth factor axis or to underlying unknown pathologies. In this review, the relatively more frequently seen syndromes with short stature (Noonan syndrome, Prader-Willi syndrome, Silver-Russell syndrome and A...