In the last few years, our knowledge of genetically determined causes of short stature has greatly increased by reports of challenging patients, who offered the opportunity to study genes that play a role in growth. Since the first paper that showed the etiology of Laron syndrome [Godowski PJ, et al: Proc Natl Acad Sci USA 1989;86:8083-8087], many mutations in the growth hormone (GH) receptor h...

Shorter than average adults are at a higher risk for obesity and are also more susceptible to diabetes and CVD, independent of BMI. In contrast, taller children have a higher risk of obesity. We hypothesised that short stature is related to adverse body composition and that the association between stature and obesity differs between generations. In a cross-sectional German database of 213 804 a...

We report on an 11-yr-old boy with short stature and Turner skeletal features. Chromosome analysis revealed a 46,X,r(Y)(p11.3q11.2) karyotype, and FISH analysis showed loss of the Short stature homeobox containing gene (SHOX) from the ring Y chromosome. The results are consistent with the association of SHOX haploinsufficiency with short stature and Turner skeletal features, and suggest the imp...

UNLABELLED Normal growth is a sign of good health. Monitoring for growth disturbances is fundamental to children's health care. Early detection and diagnosis of the causes of short stature allows management of underlying medical conditions, optimizing attainment of good health and normal adult height. CONCLUSION This review summarizes currently available information on monitoring for short st...

The classic TS phenotype includes short stature, gonadal dysgenesis with primary amenorrhea and hypergonadotropic hypogonadism, facial and body dysmorphisms, skeletal abnormalities, cardiovascular and renal malformations, and predisposition to autoimmune diseases, such as thyroid diseases, diabetes mellitus, celiac disease, and vitiligo.21 Short stature is always present and is caused by severa...