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...

hrp0097p1-298 | GH and IGFs | ESPE2023

Quality of life at adult height in adolescents and young adults treated by GH

González Briceño Laura , Magali Viaud , Beltrand Jacques , Flechtner Isabelle , Dassa Yamina , Samara-Boustani Dinane , Thalassinos Caroline , Busiah Kanetee , Pinto Graziella , Jaquet Delphine , Polak Michel

Background: short stature can lead to emotional and social stress in children and adolescents. We previously demonstrated in a cohort of 74 children that a one-year growth hormone treatment (GHT) is associated with a significant improvement of quality of life (QoL) especially on emotional and social scales, both in general (PedsQL 4.0) and height-specific (QoLiSSY) questionnaires. Whether this improvement is sustained until adult height remains to be documente...

hrp0095p2-264 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

StAR gene mutation : description of puberty development and genital life from 6 patients 46,XX with classic Congenital Lipoid Adrenal Hyperplasia.

Jardin-Millet Isabelle , Amouroux Cyril , Dufourg Marie-Noelle , Lambert Anne-Sophie , Bouvattier Claire , Parada-Bonte Fabienne , Reynaud Rachel , Demeinex Estelle , Courbiere Blandine , Albarel FrÉDÉRique , Netchine IrÈNe , Houang Muriel

Introduction: Congenital Lipoid Adrenal Hyperplasia (CLAH) is a severe deficiency of adrenal and gonadal steroidogenesis, caused by mutations in the StAR gene and the accumulation of cholesterol in the outer mitochondrial membrane due to steroidogenic acute regulatory protein (StAR) deficiency. Affected patients present peripheral adrenal insufficiency with early onset, and variable phenotypes at the age of puberty.Objective of o...

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...

hrp0092p1-139 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Gonadal Function of Female Patients with Noonan Syndrome

Moniez Sophie , Capri Yline , Pienkowski Catherine , Lepage Benoit , Hamdi Safouane , Cartault Audrey , Oliver Isabelle , Jouret Béatrice , Diene Gwenaelle , Salles Jean-Pierre , Cavé Hélène , Verloes Alain , Tauber Maithé , Yart Armelle , Edouard Thomas

Background: Abnormalities in the hypothalamo-pituitary-gonadal axis have been reported in Noonan syndrome (NS) males but few data are available in female patients. Objective: The aim of this retrospective study was to evaluate the gonadal function of female patients with NS and to look for genotype-phenotype correlations. Patients and Methods: The study population included 19 girls/adolescents with a genetically confirmed diagnosis of NS and with available cli...

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...

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...

hrp0086p1-p569 | Perinatal Endocrinology P1 | ESPE2016

Maternal Nutritional Risk Factors Associated with Neonatal Hyperinsulinism

Louvigne Mathilde , Rouleau Stephanie , Bouhours-Nouet Natacha , Donzeau Aurelie , Caldagues Emmanuelle , Souto Isabelle , Montcho Yannis , Bouvagnet Audrey Migraine , Baud Olivier , Leger Juliane , Carel Jean-Claude , Gascoin Geraldine , Coutant Regis

Background: Neonatal hyperinsulinism is the most frequent cause of neonatal recurrent hypoglycaemia. The persistent form can be explained by mutations of genes involved in beta cell function, whereas the transient form can occur in case of prematurity, low birth weight, macrosomia, perinatal hypoxia, and maternal diabetes.Objective and hypotheses: As we observed an increase in the incidence of neonatal hyperinsulinism, we hypothesized that potential mate...