Abstract Search

hrp0086rfc14.2 | Growth : Mechanisms | ESPE2016

Contribution of GHR and IGFALS Mutations to Growth Hormone Resistance – Identification of New Variants and Impact on the Inheritance Pattern

Legendre Marie , Dastot Florence , Collot Nathalie , Duquesnoy Philippe , Cohen Enzo , Sobrier Marie-Laure , Adiceam Paola , Anderson Donald , Baron Sabine , Cabrol Sylvie , Callewaert Bert , Cartigny Maryse , Craen Margarita , Crock Patricia , Ladjouze Asmahane , Lazea Cecilia , Polak Michel , Savendahl Lars , Touzani Asmae , Amselem Serge

Background: Bi-allelic GHR mutations are classically responsible for Laron syndrome, a severe growth hormone (GH) resistance syndrome. A few GHR missense mutations have also been implicated in mild GH resistance or idiopathic short stature. IGFALS mutations are responsible for recessive or semi-dominant short stature with normal GH provocative test contrasting with extremely low IGF-I levels.Objective and hypotheses: To assess the contribution of GHR and...

0 shares

ePoster

ESPE Abstracts

Contribution of GHR and IGFALS Mutations to Growth Hormone Resistance – Identification of New Variants and Impact on the Inheritance Pattern

BiosciAbstracts