ECE2013 Poster Presentations Growth hormome IGF axis – basic (16 abstracts)
Delay stature and shox gene molecular abnormalities: about 4 families
Nora Soumeya Fedala 1 , Ali El Mehdi Haddam 2 , Farida Chentli 1 , Meriem Haddad 1 & Lyna Akkache 1
1Endocrinology, BAB El Oued Hospital, Alger, Algeria; 2Endocrinology, Bologhine Hospital, Alger, Algeria.
Introduction: These last years have seen emerger identification of a large number of genes responsible of bone disease. La dyschondrosteosis: Leri weill is more important to know. It include short stature due to moderate micromelia mesomelic associated with a very characteristic deformity of the wrist: the Madelung deformity. This pathology is caused by haploinsufficiency of the SHOX gene, a gene essential in regulating the growth and remodeling of skeletal. We report observations about two young patients AD and SM six and height years old who consulted for delay stature. They had mesomelic dwarfism and Madelung deformity. Hormonal balance was unremarkable. Radiography helped diagnose LERI WEILL syndrome. The family survey has identified several cases in the two families. The genetic study is underway.
Discussion and conclusion: Located in the pseudo autosomal region of the Xchromosomia PAR1, several molecular abnormalities can effect the shox gene. It may be mutation, deletion or duplication. Others conditions of growth are associated with SHOX: The LANGER dwarfism, Turner syndrome and even some cases called idiopathic growth retardation. These conditions must be recognized early to allow effective management of affected children and their families.
Volume 32
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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