hrp0098p2-133 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2024

Experiences of infant feeding in congenital hyperinsulinism: a thematic analysis

Ginbey Eleanor , Worth Chris , Otabor Osarugue , Hall Caroline , Gilligan Niamh , Auckburally Sameera , Worthington Sarah , O'Shea Elaine , Salomon Estebanez Maria , Nikiforovski Ana , Banerjee Indi

Background and aims: Congenital hyperinsulinism (CHI) is a rare condition causing severe and recurrent hypoglycaemia in children. Feeding is a key aspect of glucose delivery; however, with severe illness causing nausea and frequent use of parenteral and non-oral feeding, infants with CHI often develop a range of feeding problems. Previous studies have shown persistence of feeding problems in this group but there is limited data on families’ experiences and per...

hrp0098p1-211 | Adrenals and HPA Axis 3 | ESPE2024

Non tumoral ACTH-Independent Cushing Syndrome in Pediatric Patients: A Retrospective Observational Cohort Study

Hassan Myriam , Samara-Boustani Dinane , Besançon Alix , Rothenbuhler Anya , Storey Caroline , Pinto Graziella , Stoupa Athanasia , Nicolino Marc , Gonzalez-Briceno Laura , Nguyen Quoc Adrien , Vermillac Gaelle , Rovani Sibylle , Flechtner Isabelle , Thalassinos Caroline , Dassa Yamina , Beatriz Arrom Branas Maria , Viaud Magali , Beltrand Jacques , Ribault Virginie , Martinerie Laetitia , Linglart Agnès , Bertherat Jerôme , Blanc Thomas , Polak Michel , Kariyawasam Dulanjalee

Purpose: ACTH-independent bilateral adrenal hyperplasia is a rare cause of pediatric Cushing's syndrome (CS). Our objective was to describe the features of pediatric ACTH-independent CS and to compare groups defined by etiology.Methods: We conducted a retrospective observational study of patients aged 0–18 years at management in 1992–2022 for ACTH-independent CS in any of three Paris university pediatric...

hrp0082p1-d2-5 | Adrenals & HP Axis | ESPE2014

Carbohydrate Metabolism in Children and Adolescents with Classical Congenital Adrenal Hyperplasia due to 21-Hydoxylase Deficiency

Dorr Helmuth G , Pichl Carolin , Marx Michaela , Herzog Nadine , Klaffenbach Daniela , Volkl Thomas

Background: Reports on obesity, high blood pressure and reduced insulin sensitivity in children with classical congenital adrenal hyperplasia (CAH) indicate an increased cardiovascular risk.Objective and Hypotheses: To evaluate potential mechanisms, we analysed various parameters of the carbohydrate metabolism in children and adolescents with CAH.Method: Out of 86 patients with classical CAH, n=41 (21 m, 20 f; ages: 6.9&#1...

hrp0082p1-d2-151 | Growth (1) | ESPE2014

Sequential Measurements of IGFI Serum Concentrations in Patients With Severe Primary IGFI Deficiency (SPIGFD) and Growth Failure Treated With Recombinant IGFI (Increlex®)

Bettendorf Markus , Kapelari Klaus , Kneppo Carolin , Muller Hermann L , Schnabel Dirk , Wolfle Joachim

Introduction: Increlex® was approved as an orphan drug for treatment of growth failure in children and adolescents with SPIGFD in 2007 with relatively little data available. Therefore sequential measurements of serum IGFI, glucose, insulin and potassium were performed in SPIGFD patients treated with Increlex® to evaluate their significance in safety and efficacy.Design: Blood samples were taken after meals before and 30, 6...

hrp0082p2-d2-276 | Adrenals & HP Axis (1) | ESPE2014

Waist-to-Height Ratio, Waist-to-Hip Ratio, Waist Circumference, and BMI in Children and Adolescents with Classical Congenital Adrenal Hyperplasia Due to 21-Hydoxylase Deficiency (CAH)

Dorr Helmuth G. , Marx Michaela , Herzog Nadine , Gassmann Katja , Pichl Carolin , Volkl Thomas

Background: It has been reported that children with congenital adrenal hyperplasia (CAH) have higher BMI, increased body fat and greater waist-to-hip ratio (WHR) than control children.Objective and hypotheses: Recently it was speculated that the screening potential of waist-to-height ratio (WHtR) and waist circumference (WC) for cardio-metabolic risk in adults is higher than WHR and BMI.Method: To review this hypothesis, we studied...

hrp0095p1-574 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Phenotype-genotype characteristics of SRD5A2 with variation in gender choice among affected individuals: A single centre experience

Kaninde Abhidhamma , Baranowski Elizabeth , Igbowke Rebecca , McCarthy Liam , Chandran Harish , Vandermerwe Elmarie , Fulton Piers , Godber Caroline , Smart Helen , Curtis Joanne , Cole Trevor , Gleeson Helena , Latthe Pallavi , Kirk Jeremy , Idkowiak Jan , Mohamed Zainaba

Background: 5α-reductase type 2 deficiency (SRD5A2) is a rare cause of 46,XY DSD. Consensus guidelines on sex of rearing assignment at birth favours male gender. Typically undervirilised genitalia at birth virilise variably at puberty, posing gender identity challenges.Aim: We describe relevant data on clinical phenotype, hormonal and molecular workup and gender preference in patients with SRD5A2 deficiency from a ...

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...

hrp0086fc5.3 | Management of Disorders of Insulin Secretion | ESPE2016

Glibentek, a New Suspension of Glibenclamide for Patients with Neonatal Diabetes, is as Effective and more Convenient than Crushed Tablets

Beltrand Jacques , Godot Cecile , Busiah Kanetee , Djerada Zoubir , Baron Sabine , Tallec Claire Le , Tessier Raphael , Ribault Virginie , Cartigny Maryse , Bruel Henri , Gozalo Claire , Treluyer Jean-Marc , Elie Caroline , Polak Michel

Background: Glibenclamide has proven to be efficient for patients with neonatal diabetes owing to potassium channel mutations. Anyway its pharmaceutical form is not suitable for young children or infants. The tablets dosage is too high for most infants and must be crushed and diluted before administration. We developed a suspension of glibenclamide (EMA Orphean drug designation january 2016) fitting recommendations of drug administration to allow a precise dosage and designed ...

hrp0082fc9.6 | Beta cells | ESPE2014

Sulfonylurea Therapy Corrects Hypotonia, Attention Deficits, Improves Complex Neuropsychological Functions and Motricity in Patients with Neonatal Diabetes Secondary to Mutation in Potassium Channel Subunits, Through a CNS Effect

Beltrand Jacques , Vaivre-Douvret Laurence , Busiah Kanetee , Fournier Emmanuel , Boddaert Nathalie , Vera Myriam , Bahi-Buisson Nadia , Bui-Quoc Emmanuel , Ingster-Moati Isabelle , Flechtner Isabelle , Simon Albane , Scharfmann Raphael , Cave Helene , Elie Caroline , Polak Michel

Background: Sulfonylurea therapy (SU) allows a better metabolic control than insulin in patients with neonatal diabetes secondary to mutation in potassium channel subunits (ND-K). Most of these patients have neurological and neuromotor developmental impairments whose changes under SU has not been studied in a systematic and prospective way in a large cohort.Objective and Hypotheses: To demonstrate the beneficial effect of SU on neuropsychological functio...