PMID: 16618986Apr 19, 2006Paper

Clinical characteristics, etiologies and pathophysiology of patients with severe short stature with severe GH deficiency: questionnaire study on the data registered with the foundation for growth science, Japan

Endocrine Journal
Kunihiko HanewKeinosuke Fujita

Abstract

In this study, we sent questionnaires to doctors treating severe short stature with severe GH deficiency (GHD) (height SDS (HtSDS) below -4 and all peak GH to provocative stimuli below 2 micro/L) (abbreviated as Severe Case), and obtained effective replies of 51 cases. The clinical characteristics, etiologies, and pathophysiology of these patients were examined. Among the 51 Severe Cases no consanguinity was observed, 44 were IGHD (24 males and 20 females), 3 were GH-1 gene deletion, 2 were Pit-1 gene mutation, and 2 were achondroplasia. HtSDS in these Severe Cases was already remarkably low at 12 (-3.0) and 24 months old (-3.9), while their birth weight and birth length were within normal ranges. Among 44 patients with IGHD, 12 were isolated GHD, and the remaining 32 were combined pituitary hormone deficiency (CPHD). Pituitary MRI was undergone in 25 idiopathic GHD, and abnormal findings (pituitary atrophy, interruption of stalk, and ectopic posterior lobe) were observed in 21 patients with CPHD. More than half of these patients had the history of breech delivery. Three patients with GH-1 gene mutation showed normal pituitary MRI, whereas one of two patients with Pit-1 mutation showed pituitary atrophy and narrowing of pituita...Continue Reading

References

Jun 1, 1986·The Journal of Clinical Endocrinology and Metabolism·B M Arafah
Aug 12, 1998·Journal of Endocrinological Investigation·C R NogueiraG A Medeiros-Neto
Jan 12, 2000·Growth Hormone & IGF Research : Official Journal of the Growth Hormone Research Society and the International IGF Research Society·Y HayashiH Seo
Aug 16, 2000·Current Opinion in Pediatrics·K M Attie
Nov 5, 2002·The Journal of Clinical Endocrinology and Metabolism·Maria Geralda F OsorioIvo J P Arnhold
Dec 6, 2003·The New England Journal of Medicine·M Jennifer AbuzzahabUNKNOWN Intrauterine Growth Retardation (IUGR) Study Group
May 6, 2004·The Journal of Clinical Endocrinology and Metabolism·Antonis VoutetakisCatherine Dacou-Voutetakis
Mar 11, 2005·Endocrine Journal·Kunihiko HanewUNKNOWN GH Treatment Study Committee, The Foundation for Growth Science, Japan

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Carotid Artery Diseases

Carotid artery disease is a group of pathological conditions of the carotid artery. Discover the latest research on carotid artery disease here.