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hrp0086rfc14.1 | Growth : Mechanisms | ESPE2016

Important Contribution of GH, GHRHR and GHSR Mutations in Isolated Growth Hormone Deficiency with a Normal Location of the Posterior Pituitary –Functional Characterization of New Variants

Cohen Enzo , Sobrier Marie-Laure , Dastot Florence , Collot Nathalie , Rose Sophie , Soleyan Aude , Vie-Luton Marie-Pierre , Duquesnoy Philippe , Copin Bruno , Amselem Serge , Legendre Marie

Background: Although growth hormone (GH) and the GH releasing hormone receptor (GHRHR) are known as etiologic factors in non-syndromic isolated growth hormone deficiency (IGHD), very few mutations have been identified in this rare condition (accounting for only 612.5% and 06.7% of IGHD cases depending on studies). The functional consequences of the identified variants have rarely been assessed.Objective and hypotheses: To assess the contribut...

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hrp0086fc3.2 | Pituitary | ESPE2016

Spectrum of LHX4 Mutations in a Cohort of 510 Patients with Hypopituitarism

Cohen Enzo , Collot Nathalie , Rose Sophie , Dastot Florence , Duquesnoy Philippe , Copin Bruno , Bertrand Anne-Marie , Brioude Frederic , Hilal Latifa , Leger Juliane , Maghnie Mohamad , Oliver-Petit Isabelle , Polak Michel , Touraine Philippe , Sobrier Marie-Laure , Amselem Serge , Legendre Marie

Background: Mutations in the gene encoding LHX4, a homeodomain-containing factor with two LIM domains, are responsible for dominant hypopituitarisms with incomplete penetrance and variable expressivity. To date, only 14 unambiguous LHX4 mutations have been reported. Among those cases, 12 had an absent or ectopic posterior pituitary (EPP) and/or an abnormal sella turcica.Objective and hypotheses: To i) assess the contribution of LHX4 in combined pituitary...

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hrp0089fc9.2 | Pituitary, neuroendocrinology and Puberty 1 | ESPE2018

Contribution of Functionally Assessed GHRHR Mutations to Idiopathic Isolated Growth Hormone Deficiency in a Cohort of 312 Unrelated Patients

Cohen Enzo , Belkacem Sabrina , Fedala Soumeya , Collot Nathalie , Khallouf Eliane , Dastot Florence , Polak Michel , Duquesnoy Philippe , Brioude Frederic , Rose Sophie , Viot Geraldine , Soleyan Aude , Carel Jean-Claude , Sobrier Marie-Laure , Chanson Philippe , Gatelais Frederique , Heinrichs Claudine , Kaffel Noureddine , Coutant Regis , Erdeve Şenay Savaş , Aycan Zehra , Thalassinos Caroline , Lyonnet Stanislas , Şıklar Zeynep , Berberoglu Merih , Brachet Cecile , Amselem Serge , Legendre Marie

Purpose: Isolated growth hormone deficiency (IGHD) is a rare condition mainly caused by mutations in GH1. The aim of this study was to assess the contribution of GHRHR mutations to IGHD in a very large cohort of patients.Methods: All GHRHR coding exons and flanking intronic regions were sequenced in 312 unrelated patients with non-syndromic IGHD. Functional consequences of all newly identified missense variants were assessed <e...

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ESPE Abstracts

Important Contribution of GH, GHRHR and GHSR Mutations in Isolated Growth Hormone Deficiency with a Normal Location of the Posterior Pituitary –Functional Characterization of New Variants

Spectrum of LHX4 Mutations in a Cohort of 510 Patients with Hypopituitarism

Contribution of Functionally Assessed GHRHR Mutations to Idiopathic Isolated Growth Hormone Deficiency in a Cohort of 312 Unrelated Patients

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