hrp0084p2-227 | Bone | ESPE2015

Longitudinal Bone Development in Patients with Classical Congenital Adrenal Hyperplasia: Data Using Peripheral Quantitative Computed Tomography

Bechtold Susanne , Duman Leyla , Weissenbacher Claudia , Roeb Julia , Pozza Robert Dalla , Schmidt Heinrich

Background and aims: Glucocorticoid treatment may influence bone and muscle development in patients with congenital adrenal hyperplasia (CAH). This study evaluated bone mineral density (BMD), bone geometry and muscle mass longitudinally throughout childhood.Methods: 18 patients (ten males, eight females) with classical CAH were included. BMD, bone geometry and muscle mass were measured using peripheral quantitative computed tomography (pQCT) in prepubert...

hrp0084p2-492 | Hypo | ESPE2015

Syndromic Hypoketotic, Hypoinsulinemic Hypoglycaemia due to a Mosaic Activating Phosphatidylinositol 3-Kinase Mutation

Kummer Sebastian , Leiter Sarah M , Welters Alena , Barroso Ines , Meissner Thomas , Semple Robert K

Background: In contrast to hypoglycaemia due to congenital hyperinsulinism, there are patients with a similar metabolic profile of hypoketotic hypoglycaemia, but low insulin levels and relatively low glucose requirements to maintain euglycaemia. So far, four patients with activating mutations in the insulin signal-transducing kinase AKT2 have been described, each also showing a syndromic phenotype including hemihypertrophy.Objective and hypotheses: We pr...

hrp0084p3-732 | Diabetes | ESPE2015

Severe Insulin Resistance and Dyslipidaemia with Unremarkable Fat Distribution in an Adolescent Girl due to Mutation in the PPARG Gene (Familial Partial Lipodystrophy Type 3)

Doing Carsten , Kummer Sebastian , Savage David , Salgin Burak , Sample Robert , Mayatepek Ertan , Meissner Thomas

Background: Mutations in the PPARG gene, encoding peroxisome proliferator-activated receptor-gamma (PPARG) are associated with Familial lipodystrophy type 3. PPARG regulates fatty acid storage and glucose metabolism. The genes activated by PPARG stimulate lipid uptake and adipogenese by fat cells. In cases of lipodystrophy and defects of adipogenesis lipoid accumulates ectopically in the liver, skeletal muscle, pancreas and cardiovascular tissues and impairs the function of th...

hrp0084p3-1148 | Puberty | ESPE2015

Endocrine Dysfunction in Hypothalamic Hamartoma Depends on Presentation (Endocrine or Epileptogenic), Radiological Characteristics and Surgery

Caredda Elisabetta , Wilkinson Robert , Ederies Ash , Improda Nicola , Varadkar Sophia , Cross Helen , Tisdall Martin , Spoudeas Helen A

Background: Hypothalamic hamartomas(HH)-rare heterotopic congenital malformations (incidence 1:200 000)-present with central precocious puberty (CPP) or gelastic seizures (GS) but their natural history and best treatment strategy are unknown. Given their proximity to the hypothalamus–pituitary axis, wider endocrine dysfunction may be expected.Objective and hypotheses: To describe clinical features and any evolving endocrinopathies in HH patients, by...

hrp0097fc13.5 | Pituitary, neuroendocrinology and puberty 2 | ESPE2023

Systematic review and meta-analysis of spermatogenesis rates after pubertal induction with gonadotropins in males with hypogonadotropic hypogonadism

Alexander Emma , Ng Yin Kyla , Faruqi Duaa , Farquhar Robert , Unadkat Ayesha , Varughese Rachel , Howard Sasha

Background: Hypogonadotropic hypogonadism is characterised by inadequate secretion of gonadotropins (luteinising hormone (LH) and follicle-stimulating hormone (FSH)) leading to absent, partial or arrested puberty. In males, classical treatment with testosterone promotes virilisation but does not facilitate testicular growth and spermatogenesis. Conversely, treatment with gonadotropins or gonadotropin-releasing hormone (GnRH) stimulates Sertoli and Leydig cells...

hrp0097p1-351 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Kallmann syndrome as a manifestion of tubulinopathies - a boy with newly defined TUBB3 R262H syndrome.

Folga Barbara , Winczewska-Wiktor Anna , Smigiel Robert , Niedziela Marek , Kolesinska Zofia

Background: Microtubules, polar polymers of αβ-tubulin heterodimers, constitute dynamic cytoskeletal structures implicated in the regulation of axonal activity along with neuronal proliferation and migration. Tubulinopathies, caused by pathogenic variants in genes encoding different isotypes of tubulin, lead to a wide and overlapping range of nervous system malformations and neurodevelopmental disorders. Namely, heterozygous missense and nonsense mu...

hrp0097p2-8 | Growth and Syndromes | ESPE2023

Growing Tall and Staying Slim During a Pandemic: The Power of rGH

Pop Raluca-Monica , Aurelian Tiuca Robert , Maria Radulescu Flavia , Ionela Pascanu Maria

Keywords: COVID 19, height trajectory, rGHBackground: Various factors can interfere with height and body mass index (BMI) trajectories and therefore, auxological parameters reflect children’s health status. The COVID-19 pandemic has had an important impact on all the social determinants of health.Aim: The aim of the current study was to assess the effect of recombinant growth...

hrp0098fc6.6 | Fat, Metabolism and Obesity 1 | ESPE2024

Novel Melanocortin and Gut-peptide Dual Agonist for Obesity and Diabetes Treatment

Elfers Clinton , Chichura Kylie , Ashlaw Emily , Mullins Ginger , Chavez Miranda Isabella , Doyle Robert , Roth Christian

Background: While research demonstrated successful weight and BMI reduction in response to recent obesity drugs in adults and adolescents, there are significant limitations of current drugs targeting single receptors, such as problems maintaining a reduced weight status, and the high rates of gastrointestinal adverse events, which can lead to discontinuation of treatment. Based on this, we hypothesized that a more effective and better tolerated obesity interve...

hrp0098rfc1.4 | Diabetes and Insulin | ESPE2024

Children born small for gestational age (SGA) under growth hormone treatment have similarly impaired glucose-insulin metabolism as children with obesity

Stein Robert , Prengemann Lea , Pfäffle Roland , Beger Christoph , Gausche Ruth , Kiess Wieland , Körner Antje

Background and Objectives: Being born small for gestational age (SGA) as well as growth hormone (GH) treatment are associated with a disturbed glucose-insulin metabolism. We aimed to investigate whether SGA patients have a higher risk of developing an impaired glucose-insulin metabolism under GH treatment in comparison to children with an isolated growth-hormone deficiency (iGHD), to children with obesity and a healthy control group.<str...

hrp0098rfc6.3 | Fat, Metabolism and Obesity 1 | ESPE2024

Identification and clinical characterization of new patients with novel monogenic agouti-like obesity trait

Wenzel Eric , Robert Stein , Meyer Klara , Landgraf Kathrin , Körner Antje

Background: We have identified a novel tandem duplication leading to ubiquitous expression of the agouti-signaling protein (ASIP) in a female patient with severe early onset obesity, red hair, tall stature, and insulin resistance (Kempf, E. et al, 2022). Due to the ectopic expression, ASIP - which normally is only expressed in the skin - can interact with the Melanocortin-4-Receptor receptor in the hypothalamus thereby causing the obesity phenotype.<p clas...