hrp0086p2-p149 | Bone & Mineral Metabolism P2 | ESPE2016

Bone Status in a Patient with IGF-I Receptor Deletion Syndrome: Bone Quality and Structure Evaluation Using DXA, pQCT, and QUS

Stagi Stefano , Pelosi Paola , Scalini Perla , Cavalli Loredana , Pantaleo Marilena , Lapi Elisabetta , Martino Maurizio de

Background: Various aspects of IGF1R defects have been analysed to date, but the effects of IGF1R haploinsufficiency bone status and metabolism were rarely investigated.Objective and hypotheses: To study bone metabolism and structure in a case of Insulin-like growth factor-I (IGF-I) receptor (IGF1R) gene deletion.Method: Genetic analysis, GH stimulation, rhGH treatme...

hrp0095p2-55 | Diabetes and Insulin | ESPE2022

A case of de novo ABCC8 gene mutation resulting in Transient Neonatal Diabetes

Clemente Marisa Ferreira

Neonatal diabetes is characterised by hyperglycaemia in the first 6 months of life. Transient neonatal diabetes (TND) is differentiated from permanent neonatal diabetes by its remission in infancy/early childhood, with possible relapse during adolescence in 50% of the cases. Incidence of neonatal diabetes is thought to range from 1:90,000 to 1:160,000. A gene mutation affecting pancreatic beta cells synthesis/secretion of insulin is present in more than 80% of the cases. Overe...

hrp0092p2-81 | Diabetes and Insulin | ESPE2019

A de novo Pathogenic Heterozygous Mutation of the Insulin Receptor gene in a Patient with type A Insulin Resistance Syndrome

Sun Manqing , Wang Wei , Lu Wenli , Zhang Lidan , Dong Zhiya , Xiao Yuan , Ma Xiaoyu , Ni Jihong , Wang Defen

Background: Defects of the insulin receptor gene (INSR) can cause genetic syndromes associated with a wide diverse range of congenital insulin resistance from milder insulin-resistant diabetes mellitus (Type A insulin resistance syndrome, TAIRS) to leprechaunism (Donahue syndrome). Clinical features in TAIRS vary due to the severity of damage in INSR, precise diagnosis is challenging.Materials and Methods</stron...

hrp0089p3-p238 | Growth &amp; Syndromes P3 | ESPE2018

Hypothyroidism and Growth Hormone (GH) Deficiency, a Spotlight on De Novo Chromosomal 20p11.2 Deletion

Mohammed Idris , Al-Khawaga Sara , Hannah Reem , Saraswathi Saras , Haris Basma , Saeed Amira , Shararri Sanaa , Hussain* Khalid

Background: There are few reports describing proximal deletions of chromosome 20p, making it difficult to predict the likely consequences of the deletion in this area. One report has described a proximal 20p11.2 deletion associated with panhypopituitarism, craniofacial dysmorphism, a small phallus with a semi bifid scrotum, and bilateral widely separated first and second toes. The only other report has demonstrated neurodevelopmental abnormalities associated with band 20p11.2 ...

hrp0089p3-p288 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Bilateral Optic Nerve Hypoplasia Revealing Septo Optic Dysplasia or De Morsier Syndrome: A Case Report

Yamina Aribi , Meriem Bensaleh , Lila Brakni , Zoubir Sellal , Aicha Lachkhem , Samia Ouldkablia

Background: Septo-optic dysplasia (SOD) is a congenital affection characterized by classic triade: optic nerve hypoplasia, hypothalamic-pituitary endocrine deficits and mdline abnormalities of the brain. It is typically diagnosed in infancy and has a variable presentation.Case presentation: The patient is an 5 year old Algerian girl. At birth, bilateral congenital nystagmus and strabism was noted? Right blindness was suspected by parents at age of 2 year...

hrp0084p2-466 | Growth | ESPE2015

Whole Exome Sequencing Identifies De Novo HRAS Mutation Underlying Primary IGF1 Deficiency (PIGFD)

Grosse Greta , Hilger Alina , Draaken Markus , Ludwig Michael , Reutter Heiko , Lorenzen Franziska , Woelfle Joachim

Background: Primary IGF1 deficiency (PIGFD) is a rare condition defined by low IGF1 levels, GH sufficiency and absence of secondary causes of growth failure. PIGFD is an approved indication for treatment with recombinant IGF1 (rIGF1). Its genetic causes remain largely unknown.Objective and hypotheses: To elucidate genetic causes of PIGFD.Method: Clinical phenotyping followed by trio-based whole-exome sequencing (WES) in 11 complete...

hrp0084p3-1193 | Thyroid | ESPE2015

NKX2-1 p.Asp266Argfs142X De Novo Mutation in a Girl with Congenital Hypothyroidism (CH): Phenotypic Description

Stoeva Iva , Thorwarth Anne , Stoilov Boris , Krude Heiko

Background: Ttf1−/− mice had complete absence of follicular and parafollicular cells, agenesis of lung parenchyma, ventral forebrain, and pituitary. Congenital hypothyroidism (CH) patients with chromosomal deletions encompassing the TTF1 locus and point mutations in the TTF1 gene confirmed its implication in the phenotype: CH with a thyroid gland in place, associated with respiratory distress syndro...

hrp0095p1-470 | Fat, Metabolism and Obesity | ESPE2022

High carbohydrate diet results in sex-specific differences in energy homeostasis in mice with PAPP-A2 deficiency

J. López Gambero Antonio , del Mar Fernández-Arjona María , De Ceglia Marialuisa , Rubio Leticia , Rivera Patricia , Vargas Antonio , Vera-Fernández Carlos , Rodríguez de Fonseca Fernando , A. Chowen Julie , Argente Jesús , Suárez Juan

The growth hormone (GH)-insulin-like growth factor (IGF-1) system is essential for optimal human growth and energy homeostasis. Deficiency of pregnancy-associated plasma protein-A2 (PAPP-A2), a protease involved in the liberation of free IGF-1, leads to problems in growth and bone density in humans and mice. Patients with PAPP-A2 deficiency also present lower body mass and mild glucose intolerance. The present study aimed to determine the influence of 1 month of high carbohydr...

hrp0089rfc13.1 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2018

Risk of Long-Term Endocrine Sequelae in Survivors of Progressing Childhood Optic Pathway Glioma (OPG) Treated by Upfront Chemotherapy: Preliminary Analyses of 102 Subjects from the French Multicentric BB-SFOP Registry

Hippolyte Helene , De Carli Emilie , Pellier Isabelle , Delion Matthieu , Rakotonjanahary Josue , Rialland Xavier , Coutant Regis

For the brain tumor committee of SFCE (Société Française des Cancers de l’Enfant).Objective: Therapeutic approach favors chemotherapy as the first-line-treatment in progressing OPG. There are few data on long term endocrine outcomes of aggressive OPG treated by upfront chemotherapy. Our main objective was to describe the long-term endocrine sequelae in these patients and to identify potential early predictors of the endocrine involvem...

hrp0097rfc10.3 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) &amp; Multisystem endocrine disorders | ESPE2023

Non-coding Variants in HK1 Account for 5% of Cases of Congenital Hyperinsulinism Without an Identified Genetic Cause

Rosenfeld Elizabeth , E. Boodhansingh Kara , A. Stanley Charles , Ganguly Arupa , D. De Leon Diva

Background: The genetic etiology of non-syndromic HI remains unknown in over 20% of all cases, and over 50% of diazoxide-responsive cases. Non-coding variants in HK1 have been suggested to cause HI by linkage-analysis (Pinney et al., 2008). More recently, variants within a regulatory region of HK1 intron 2 were reported in 17 individuals with HI (Wakeling et al., 2022). These variants have been proposed to cause HI by disrup...