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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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hrp0086fc3.3 | Pituitary | ESPE2016

Contribution of GLI2 Mutations to Pituitary Deficits and Delineation of the Associated Phenotypic Spectrum

Cohen Enzo , Pham Aurelie , Dastot Florence , Collot Nathalie , Afenjar Alexandra , Carel Jean-Claude , Furioli Jean , Leger Juliane , Leheup Bruno , Mignot Brigitte , Naud-Saudreau Catherine , Nivot Sylvie , Polak Michel , Rappaport Raphael , Simon Dominique , Sizonenko Pierre , Vincent-Delorme Catherine , Zung Amnon , Amselem Serge , Legendre Marie

Background: GLI2 is a zinc-finger transcription factor of the SHH signaling pathway, expressed during ventral forebrain and pituitary development. GLI2 mutations account for microforms of dominant holoprosencephaly. So far, only 15 unambiguous mutations were found in hypopituitarism essentially combined pituitary hormone deficiency (CPHD) frequently associated with holoprosencephaly-like malformations and/or polydactyly.Objective and...

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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...

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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

Contribution of GLI2 Mutations to Pituitary Deficits and Delineation of the Associated Phenotypic Spectrum

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

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