hrp0094p1-123 | Growth A | ESPE2021

Growth and nutrition improvement with recombinant growth hormone in prepubertal patients with Silver-Russell syndrome

Villemeur Raphaelle Billette de , Giabicani Eloise , Dubern Beatrice , Netchine Irene ,

Objective: Silver-Russell syndrome (SRS) is an imprinting disorder characterized by severe intrauterine and postnatal growth retardation and feeding difficulties. Patients can benefit from recombinant growth hormone (rGH) therapy which has shown its positive effect on adult height. Our objective was to assess the short-term effects of rGH therapy on growth and nutritional status in prepubertal patients with SRS.Design: Retrospective anal...

hrp0094p1-188 | Pituitary B | ESPE2021

Congenital hypogonadotropic hypogonadism in a large French cohort : New genetic findings

Talbi Abir , Hypogonadotropic Hypogonadism Study Group , de Roux Nicolas ,

Congenital hypogonadotropic hypogonadism (CHH) is a rare condition caused by a dysfunction of the GnRH Axis. The clinical variability of the disease is accompanied by genetic heterogeneity. Indeed, more than 40 genes are implicated in the pathogenesis of this condition. The main goal of this present study was to characterize genetic defects in a large cohort of French CHH patients using a targeted NGS panel.Patients: a cohort of 120 unrelated patients (7...

hrp0094p2-482 | Thyroid | ESPE2021

Iodine status and autoimmune thyroiditis in children; a case-control study in Sri Lanka

Hashim Raihana , Mahesh Buddika , Atapattu Navoda , de Silva Shamya

Conclusions: Iodine nutrition status in children in both groups was optimal, based on urinary iodine concentration. Furthermore, there was no significant association between iodine intake and autoimmune thyroiditis....

hrp0095s7.3 | Insight into Metabolic disorders and new therapeutic targets | ESPE2022

Polycystic Ovary Syndrome in Adolescent Girls:Towards a Treatment Focusing on Ectopic Fat

Ibáñez Lourdes , de Zegher Francis

Polycystic ovary syndrome is the most common cause of hirsutism and menstrual irregularity in adolescent girls and young women. It is often accompanied by obesity and insulin resistance and is associated to lifelong co-morbidities, including subfertility, type 2 diabetes, non-alcoholic fatty liver disease, pre-menopausal cancer, depression, low health-related Qol, and pregnancy and offspring complications. PCOS in adolescent girls is commonly driven by fat excess in subcutaneo...

hrp0095p1-557 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Pituitary tuberculosis and hypothalamic obesity can be reversed by prolonged anti-tuberculosis treatment

Rochtus Anne , Lagae Lieven , Vermeulen Francois , de Zegher Francis

Background and methods: Sellar and suprasellar tuberculomas are extremely rare in children and most often patients present with headache, vomiting, visual disturbances, and hypofunction of the pituitary gland. Here, we report a girl with hypothalamic obesity, that recovers after antituberculosis treatment.Findings: An 11-year old girl presented with headache, fever and anorexia that progressively evolved into an encephal...

hrp0089p3-p400 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Clinical and Molecular Characterization of One Nr5a1 Gene Mutation Found in a Patient WITH 46, XY DSD

Vela Amaya , Lapiscina Idoia Martinez De , Nanclares Gustavo Perez De , Amaia Rodriguez , Rica Itxaso , Castano Luis , Grau Gema

Introduction: Steroidogenic factor-1 (SF1), encoded by the NR5A1 gene, regulates several genes involved in male sexual determination, such as SOX9 and AMH, cholesterol mobilization and synthesis of a number of steroidogenic enzymes, like 3╬▓HSD, and androgen biosynthesis, like INSL3. Mutations in NR5A1 have been associated to a broad phenotypic spectrum in 46, XY subjects, including pure gonadal dysgenesis, infertility, anorchia...

hrp0086p1-p470 | Fat Metabolism and Obesity P1 | ESPE2016

Brain Structure, Executive Function and Appetitive Traits in Adolescent Obesity

Jan de Groot Cornelis , van den Akker Erica , Rings Edmond , Delemarre-van de Waal Henriette , van der Grond Jeroen

Background: Children with obesity show differences in brain structure, executive function and appetitive traits when compared to lean peers. Results of imaging studies, however, have been contradictory.Objective and hypotheses: To investigate whether childhood obesity is associated with differences in brain structure and whether differences associate with executive function and appetitive traits.Method: A cross-sectional case-contr...

hrp0086p2-p588 | Perinatal Endocrinology P2 | ESPE2016

Case Report on Hyperinsulinism/hyperammonaemia Syndrome: An Easily Treatable Cause of Postprandial Hypoglycaemia

Seneviratne Sumudu , Jayatunge Tharanga , Atapattu Navoda , De Silva K. S. H. , Wickramasinghe V. P. , De Silva Harendra

Background: Hyperinsulinism/hyperammonaemia (HI/HA) syndrome is associated with postprandial hypoglycaemia and mild hyperammonemia. There is increased insulin release following protein ingestion, which is amenable to diaxozide therapy. While developmental delay and normoglycaemic seizures can also occur, hepatomegaly has not been reported. We report a child with HI/HA and hepatomegaly, mild learning difficulty and obesity, who was initially mistaken to have glycogen storage di...

hrp0082p1-d3-89 | Diabetes (2) | ESPE2014

Nutritional Status and Respiratory Function in Patients Affected by Cystic Fibrosis and Glucose Metabolism Derangements after 4 Years of Insulin Therapy with Glargine

Mozzillo Enza , Raia Valeria , Fattorusso Valentina , Cerrato Carla , De Nitto Elena , De Gregorio Fabiola , Sepe Angela , Valerio Giuliana , Franzese Adriana

Background: The glucose metabolism derangements (GMD) can have an important impact on nutritional status and respiratory function in patients with cystic fibrosis (CF).Objective and hypotheses: The aim of our study is to evaluate the effects of 4 years of glargine therapy in patients affected by CF and GMD.Method: All CF patients attended to the Center of Cystic Fibrosis of our department were screened by oral glucose tolerance tes...

hrp0082p1-d3-133 | Fat Metabolism & Obesity (2) | ESPE2014

Can We Predict the Risk of Obesity?

de Arriba Antonio , Pascual Javier , de Francisco Mario , Ferrer Marta , Martinez Ignacio , Labarta Jose Ignacio , Ferrandez Angel

Background: Recognizing the risk of developing obesity is essential to implement preventive measures to avoid the increasing prevalence of obesity in adulthood.Objective: To evaluate predictive factors that may be associated with overweight and obesity in early adulthood.Method: A regression analysis of different variables of body composition in a normal population have been done. The sample consisted of 122 boys and 120 girls foll...