Delay stature and shox gene molecular abnormalities: about 4 families

Nora Soumeya Fedala; Haddam Ali El Mehdi; Farida Chentli; Meriem Haddad; Lyna Akkache

doi:10.1530/endoabs.32.P621

P621

Prev Next

Section Contents Cite

Endocrine Abstracts (2013) 32 P621 | DOI: 10.1530/endoabs.32.P621

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

Err

Author affiliations

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.