Searchable abstracts of presentations at key conferences in endocrinology

ea0029s16.2 | Understanding growth | ICEECE2012

Genes and the investigation of idiopathic short stature (ISS): are we ready for prime time?

Wit J.

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...