hrp0082p2-d1-259 | Adrenals & HP Axis | ESPE2014

Inadequate Cortisol Response to Tetracosactide (Synacthen®) Test in NCCAH Patients, an Exception to the Rule?

Stoupa Athanasia , Briceno Laura Gonzalez , Pinto Graziella , Samara-Boustani Dinane , Flechtner Isabelle , Thalassinos Caroline , Bidet Maud , Simon Albane , Morel Yves , Bellanne-Chantelot Christine , Touraine Philippe , Polak Michel

Background: Non-classical congenital adrenal hyperplasia (NCCAH) may present during childhood, adolescence or even adulthood with various degrees of hyperandrogenism. Diagnosis is established through tetracosactide (Synacthen®) test and genotyping. Cortisol insufficiency has rarely been described in NCCAH.Objective and hypotheses: To describe cortisol response to tetracosactide test in NCCAH patients.Method: Retrosp...

hrp0084p2-469 | Growth | ESPE2015

Major Improvement in Parental Perception of their Children’s Height-Specific Quality of Life after 1 Year of GH Treatment: Our Experience with the QoLiSSY Questionnaire

Gonzalez-Briceno Laura Gabriela , Viaud Magali , Flechtner Isabelle , Dassa Yamina , Samara-Boustani Dinane , Thalassinos Caroline , Pauwels Christian , Beltrand Jacques , Busiah Kanetee , Pinto Graziella , Polak Michel

Background: Short stature may be a source of social and affective stress in children and their parents, and thus impact negatively on their quality of life (QoL). Treatment by GH may improve QoL through normalisation of height.Objective: To evaluate height-specific QoL in short stature children after 1 year of GH treatment.Methods: Prospective study. Inclusion criteria were: having started GH treatment at Hôpital Necker-Enfant...

hrp0094p2-253 | Growth hormone and IGFs | ESPE2021

GROWPATI Study: Growth and puberty description pattern in a well-characterized cohort of patients with growth retardation due to severe primary IGF1 deficiency

Stoupa Athanasia , Flechtner Isabelle , Viaud Magali , Pinto Graziella , Samara-Boustani Dinane , Thalassinos Caroline , Netchine Irene , Brioude Frederic , Amselem Serge , Legendre Marie , Polak Michel ,

Background: Severe primary insulin-growth factor-1 (IGF1) deficiency (SPIGF1D) is a rare cause of growth delay. The diagnostic criteria include age- and sex-dependent low basal IGF1 concentration (<2.5th percentile), height SDS < -3SDS, absence of growth hormone deficiency and of any secondary causes of growth failure.Objectives: 1) Report the growth pattern and pubertal status 2) Identify the molecula...

hrp0095p2-144 | GH and IGFs | ESPE2022

Growpati Study: Clinical and genetic characterization of a cohort of patients with short stature due to severe primary IGF1 deficiency

Stoupa Athanasia , Flechtner Isabelle , Viaud Magali , Pinto Graziella , Samara-Boustani Dinane , Gonzalez-Briceno Laura , Thalassinos Caroline , Amselem Serge , Legendre Marie , Netchine Irene , Brioude Frederic , Polak Michel

Background: Severe primary insulin-growth factor-1 (IGF1) deficiency (SPIGF1D) is a rare cause of short stature. Diagnosis is based on low basal IGF1 concentration, short stature, normal or elevated growth hormone concentrations and absence of any secondary causes of growth failure. Thanks to advances in next-generation sequencing (NGS) technologies, genetic etiology of SPIGF1D is expanding.Objectives: • Identify th...

hrp0092p1-80 | GH and IGFs | ESPE2019

Clinical Characteristics, Puberty Pattern and Adult or Near-adult-height Data in a Group of Patients with Growth Failure due to Severe Primary IGF-1 Deficiency (GROWPATI Study)

Stoupa Athanasia , Lorraud Christine , Flechtner Isabelle , Viaud Magali , Pinto Graziella , Samara-Boustani Dinane , Thalassinos Caroline , Brioude Frédéric , Netchine Irène , Amselem Serge , Legendre Marie , Polak Michel

Background: Severe primary insulin-growth factor-1 (IGF-1) deficiency (SPIGF1D) is a rare cause of growth retardation. Diagnostic criteria include age- and sex-dependent low basal IGF-1 levels (<2.5th percentile), height ≤ -3SDS, absence of growth hormone deficiency and of any secondary causes of growth failure.Objectives: Description of pubertal onset and growth spurt, data on adult or near-adult-he...

hrp0089p2-p207 | GH &amp; IGFs P2 | ESPE2018

Clinical and Preliminary Molecular Description of a Cohort of Patients with Growth Retardation due to Severe Primary IGF1 Deficiency (GROWPATI Study)

Stoupa Athanasia , Viaud Magali , Flechtner Isabelle , Pinto Graziella , Samara-Boustani Dinane , Thalassinos Caroline , Briceno Laura Gabriela Gonzalez , Beltrand Jacques , Netchine Irene , Brioude Frederic , Legendre Marie , Amselem Serge , Polak Michel

Background: Severe primary insulin-growth factor-1 (IGF1) deficiency (SPIGF1D) is a rare cause of growth retardation. Diagnostic criteria include age- and sex-dependent low basal IGF1 levels (<2.5th percentile), height ≤ −3SDS, absence of growth hormone (GH) deficiency and of any secondary causes of growth failure.Objectives: Phenotypic description, follow-up and molecular studies in a cohort of patients diagnosed with growth f...

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...

hrp0095fc10.1 | GH and IGFs | ESPE2022

Growth hormone and childhood-onset craniopharyngioma: When to initiate growth hormone replacement therapy?

Quoc Adrien Nguyen , Kévin Beccaria , BriceñO Laura GonzáLez , Graziella Pinto , Boustani Dinane Samara , Athanasia Stoupa , Jacques Beltrand , Alix Besançon , Caroline Thalassinos , Stéphanie Puget , Thomas Blauwblomme , Claire Alapetite , Stéphanie Bolle , François Doz , Jacques Grill , Christelle Dufour , Franck Bourdeaut , Samuel Abbou , Rousseau Léa Guerrini , Amaury Leruste , Séverine Brabant , Magali Viaud , Nathalie Boddaert , Michel Polak , Dulanjalee Kariyawasam

Objective: Craniopharyngioma is a benign brain tumour with frequent local recurrence after treatment. Growth hormone replacement therapy (GHRT) is prescribed in children with growth hormone deficiency due to childhood-onset craniopharyngioma. The objective was to evaluate whether shorter time delay of GHRT initiation after childhood-onset craniopharyngioma completion therapy increased the risk of recurrence.Design: Our r...

hrp0089p1-p196 | Pituitary, Neuroendocrinology and Puberty P1 | ESPE2018

Endocrine Follow-up of Children with a History of Brain Tumour: Data from Our Large Cohort at Necker University Hospital, Paris, 2010–2015

Briceno Laura Gabriela Gonzalez , Samara-Boustani Dinane , Beltrand Jacques , Grill Jacques , Puget Stephanie , Dufour Christelle , Sainte-Rose Christian , Alapetite Claire , Pinto Graziella , Touraine Philippe , Valteau-Couant Dominique , Kariyawasam Dulanjalee , Aerts Isabelle , Beccaria Kevin , Bourgeois Marie , Roujeau Thomas , Blauwblomme Thomas , Rocco Federico Di , Thalassinos Caroline , Zerah Michel , Pauwels Christian , Brugieres Laurence , James Syril , Busiah Kanetee , Simon Albane , Bourdeaut Franck , Bolle Stephanie , Fresneau Brice , Michon Jean , Orbach Daniel , Guerrini-Rousseau Lea , Doz Francois , Polak Michel

Background: Brain tumours are the most frequent solid tumours during childhood. Many of these patients develop endocrine disorders.Objective: To describe our cohort of patients with primary brain tumours, followed in the Pediatric Endocrinology Unit at Hôpital Universitaire Necker–Enfants Malades, Paris, France between 2010–2015, to assess current practice and propose recommendations.Methods: Retrospective a...

hrp0094p1-185 | Pituitary B | ESPE2021

Puberty and pituitary-gonadal axis function after treatment for a childhood brain tumor

Rosimont Manon , Kariyawasam Dulanjalee , Samara-Boustani Dinane , Giani Elisa , Beltrand Jacques , Bolle Stephanie , Fresneau Brice , Puget Stephanie , Sainte-Rose Christian , Alapetite Claire , Pinto Graziella , Piketty Marie-Liesse , Brabant Severine , Abbou Samuel , Aerts Isabelle , Beccaria Kevin , Bourgeois Marie , Roujeau Thomas , Blauwblomme Thomas , Di Rocco Frederico , Thalassinos Caroline , Zerah Michel , Pauwels Christian , Rigaud Charlotte , James Syril , Busiah Kanetee , Simon Albanne , Bourdeaut Franck , Lemelle Lauriane , Guerrini-Rousseau Lea , Orbach Daniel , Touraine Philippe , Doz Francois , Dufour Christelle , Grill Jacques , Polak Michel , G. Gonzalez Briceno Laura ,

Introduction: Primary brain tumors are the second most common childhood malignancies, with an increasing survival rate over the years. Late effects on puberty and fertility alter survivors’ quality of life.Methods: We included 204 patients diagnosed with a primary brain tumor before 18 years, followed in pediatric endocrinology at the University Hospital “Necker-Enfants Malades” in Paris between January 20...