hrp0098p3-164 | Growth and Syndromes | ESPE2024

Design and objectives of Study 111-902: a multicenter, prospective and retrospective observational study of children with hypochondroplasia

Dauber Andrew , Irving Melita , Savarirayan Ravi , Ghani Sajda , Sabir Ian , Bassi Roberto

Introduction: Hypochondroplasia is a rare genetic growth-related condition primarily caused by FGFR3 variants that lead to decreased endochondral bone growth, disproportionate short stature and other medical complications. It shares pathogenetic and phenotypic similarities to achondroplasia. Outside of Japan, there are no approved pharmacological treatments for hypochondroplasia. Vosoritide, a C-type natriuretic peptide analog, is an approved first-in...

hrp0095fc3.2 | Early Life and Multisystem Endocrinology | ESPE2022

Results from a Global, Multi-Center, Phase 2b Study (RIZE) in Congenital Hyperinsulinism: Characterization of a High Unmet Treatment Need and Glycemic Response to RZ358

Demirbilek Huseyin , Melikyan Maria , Galcheva Sonya , Dastamani Antonia , Thornton Paul , De Leon Diva , Raskin Julie , Roberts Brian , Hood Davelyn , O'Boyle Erin , Christesen Henrik

Background: Congenital Hyperinsulinism (CHI) is the most frequent cause of severe, persistent hypoglycemia in children. Persistent hypoglycemia places patients at risk for adverse clinical outcomes, and current guidelines recommend maintaining plasma glucose >3.9mmol/l. CHI patients often have substantial, residual hypoglycemia and fail to meet treatment goals with currently available standard of care (SOC) therapies. In this study, we aimed to characterize...

hrp0098p1-212 | Adrenals and HPA Axis 3 | ESPE2024

Negative Impact of Supraphysiological Glucocorticoid Dosing on Growth and Changes in Glucocorticoid Dose and Androstenedione Health States in Patients with Classic Congenital Adrenal Hyperplasia: Results from the CAHtalog™ Patient Registry

Lekarev Oksana , Sen Ginny , Haider Mahroz , Tang Fei , Friedler Haley , Chen Joy , Lin-Su Karen , Matos Dina , Dessibourg Jackie , Cheng Henry , Roberts Eiry , Chan Jean , Jeha George

Introduction: Patients with classic congenital adrenal hyperplasia (CAH) require glucocorticoid (GC) therapy to replace cortisol insufficiency and reduce excess adrenal androgens, usually necessitating supraphysiologic GC doses. CAHtalog™, developed in partnership with CARES Foundation using the PicnicHealth platform, is a real-world US patient registry that characterizes the natural history of classic CAH. This study explored changes in health states ba...

hrp0082p3-d3-786 | Fat Metabolism & Obesity (2) | ESPE2014

Hypothalamic Obesity in Children and Adolescents: a Multi-Disciplinary Approach and Novel Therapeutic Tools

Tessaris Daniele , Tuscano Antonella , Rabbone Ivana , Lezo Antonella , Fenocchio Giorgia , Broglio Fabio , Spinardi Alessandra , Lala Roberto , Matarazzo Patrizia

Background: Hypothalamic obesity (HO), due to midline congenital malformations, genetic diseases or hypothalamo-hypophysis tumours, is severe and difficult to treat. Patients are scarcely compliant to diet and physical activity, for disabilities often affecting them. Drugs have been rarely employed.Objective and hypotheses: Aim of the study was to treat hypopituitaric children and adolescents affected by severe HO with a multidisciplinary approach includ...

hrp0084fc13.4 | Thyroid | ESPE2015

Effects of Initial Levothyroxine Dose on Growth and Neurodevelopmental Outcomes During the First Year of Life in Children with Congenital Hypothyroidism

Esposito Andrea , D'Onofrio Gianluca , Cassio Alessandra , Corrias Andrea , Gastaldi Roberto , Vigone Maria Cristina , Wasniewska Malgorzata Gabriela , Weber Giovanna , Salerno Mariacarolina

Background: An important issue in the management of congenital hypothyroidism (CH) is the best initial dose of levothyroxine (L-T4) in order to achieve optimal neurocognitive outcomes. Both European and American guidelines suggest an initial dose of 10–15 μg/kg per die but trials on long-term effects of different doses within this range are lacking.Objective and hypotheses: This was a multicenter randomized trial to ev...

hrp0084p1-87 | Growth Hormone | ESPE2015

A Novel OTX2 Gene Mutation in a Child with Growth Hormone Deficiency

Lonero Antonella , Delvecchio Maurizio , Primignani Paola , Caputo Roberto , De alma Fabrizia , Luce Vincenza , Faienza Maria Felicia , Cavallo Luciano

Background: OTX2 is expressed in the human brain and plays a key role in the eye development. OTX2 mutations are reported in patients with ano/microphtalmia, optic nerve or optic chiasm hypoplasia, ocular coloboma and retinal dystrophies, associated in some cases with brain or pituitary abnormalities.Objective and hypotheses: Most of OTX2 mutations are nonsense or frameshift, more rarely missense mutations occur.Method: We...

hrp0084p1-118 | Puberty | ESPE2015

Specific Hypothalamic Activation Pattern by mGlu5 Receptor Blockade in vivo During Pubertal Development in Female Mice

Inta Ioana , de Angelis Roberto , Lankisch Katja , Dormann Christof , Pfeiffer Natascha , Boehm Ulrich , Gass Peter , Bettendorf Markus

Background: Puberty is characterised by important changes of brain networks. The glutamate system plays a main role in modulating the onset of puberty as shown for NMDA receptor agonists. However, the underlying mechanisms are poorly understood. Metabotropic mGlu5 receptors (mGluR5) are tightly linked to NMDA receptors. The effect of mGluR5 blockade on neurohormonal mechanisms in puberty initiation were not studied yet.Objective and hypotheses: To invest...

hrp0097p1-532 | Multisystem Endocrine Disorders | ESPE2023

Prevalence of endocrinopathies in a cohort of patients with Rett syndrome: a double center observational study

Pepe Giorgia , Stagi Stefano , Corica Domenico , Coco Roberto , Di Rosa Gabriella , Bossowski Filip , Skorupska Magdalena , Aversa Tommaso , Wasniewska Malgorzata

Objective: to assess the prevalence of endocrinopathies in a pediatric population of Rett syndrome (RTT) patients.Design: retrospective observational double center study.Methods: 51 caucasian patients (47 girls, 4 boy) with genetically confirmed diagnosis of RTT were enrolled (mean age: 9.65±5.9 years, range: 1-18 years). The patients were referred from the Rett Center of two It...

hrp0097p2-37 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

A male case of peripheral precocious puberty caused by testotoxicosis

Coco Roberto , Pepe Giorgia , Li Pomi Alessandra , Corica Domenico , Lugarà Cecilia , Valenzise Mariella , Wasniewska Malgorzata , Aversa Tommaso

Introduction: Familial male-limited precocious puberty (or testotoxicosis) is a very rare genetic disorder with autosomal dominant transmission that causes gonadotropin-independent precocious puberty due to mutations activating the lutropin-chorionic gonadotropin receptor (LHCGR), which lead to elevated testosterone levels and suppressed gonadotropins. The age of onset is between 2-5 years essentially with penis and testes enlargement, linear growth accelerati...

hrp0098p3-30 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Red flag for the diagnosis of non-nutritional rickets: experience of a single centre in Southern Italy

Toscano Fabio , Corica Domenico , Foti Randazzese Simone , Coco Roberto , Pepe Giorgia , Anna Morabito Letteria , Aversa Tommaso , Wasniewska Malgorzata

Introduction: Non-nutritional rickets forms are often unrecognized. A late diagnosis could negatively affect the outcome. The aimof this study is to identify peculiar clinical and biochemical signs at the onset of non-nutritional rickets to promote early diagnosis.Materials and Methods: A retrospective monocentric observational study was conducted on a sample of outpatients consecutively evaluated at the pediatric endocr...