Author/Editor		Savage, MO; Johnston, LB; Woods, KA; Camacho-Huebner, MB; Clark, AJL
Title		Growth hormone insensitivity syndromes
Type		članek
Source		In: Mrevlje F, editor. SEK. Zbornik povzetkov predavanj in posterskih predstavitev 1. slovenski endokrinološki kongres z mednarodno udeležbo; 1998 okt 1-3; Radenci. Ljubljana: Združenje endokrinologov Slovenije,
Publication year		1998
Volume		str. 50-2
Language		eng
Abstract		The genetic investigation of the growth hormone (GH)-insulin-like growth factor I (IGF-1) axis has revealed mutations at a number of diffrent sites. Mutations have been shown to involve the synthesis of GH, its molecular structure, and the function of the GH receptor. Hitherto mutations involving the intracellular signal transduction process have not been described and this review will summarise the newly described partial deletion of the IGF-I gene, Mutations affecting the molecular structure of GH, the function of the GH receptor and the synthesis of IGF-I result in the syndrome of GH insentivity (GHIS). This lecture will concentrate on mutation at the level of the GH receptor gene and in the IGF-I gene. The Current status of IGF-I treatment will be presented.
Descriptors		SOMATOTROPIN RECEPTORS, SOMATOTROPIN INSULIN-LIKE GROWTH FACTOR I MUTATION