Endocrine Abstracts

Variation in quantitative traits such as human height is caused by a combination of multiple genes and environmental effects. Traditionally, since Galton in the late 1800s, the genetics of such traits has been studied using concepts that refer to the combined effect of all genes (e.g., heritability). Estimation of heritability for adult height are ~0.8, so that 80% of differences between people is due to genetic factors. Genome-wide association studies (GWAS) facilitate the di...

Strictly speaking, the diagnosis of idiopathic short stature (ISS) can only be made after exclusion of all known causes of growth failure, but for pragmatic and financial reasons there are limits to the investigations that can be carried out. Clinical algorithms can assist decisions on genetic testing. Testing for SHOX is indicated if there are signs of Leri-Weill syndrome, including Madelung deformity, short forearm and lower legs. Short upper arms and legs should lead to tes...

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