hrp0098p3-260 | Thyroid | ESPE2024

Evolution of subclinical hypothyroidism in infancy: a single-center longitudinal retrospective cohort study

Franchina Francesca , Lugarà Cecilia , Coco Roberto , Pepe Giorgia , Anna Morabito Letteria , Li Pomi Alessandra , Corica Domenico , Wasniewska Malgorzata , Aversa Tommaso

Background: Management of subclinical hypothyroidism (SH) in infancy is still controversial. According to the European Guidelines for Congenital Hypothyroidism (CH), in case of TSH levels between 6 and 20 µUI/ml, both levothyroxine (L-T4) therapy and a wait-and-see approach can be considered.Aim: to describe the evolution of SH diagnosed in newborns recalled by neonatal screening (TSH values ≥7µUI/ml)....

hrp0098fc4.4 | Adrenals and HPA Axis 1 | ESPE2024

Crinecerfont, a Corticotropin-Releasing Factor Type 1 Receptor (CRF1) Antagonist, Reduced Excess Adrenal Androgens and Glucocorticoid Doses in Children and Adolescents with Classic Congenital Adrenal Hyperplasia: Results from CAHtalystTM Pediatric

Sarafoglou Kyriakie , S. Kim Mimi , Lodish Maya , I. Felner Eric , Martinerie Laetitia , J. Nokoff Natalie , Clemente Maria , Y. Fechner Patricia , G. Vogiatzi Maria , W. Speiser Phyllis , B.G. Rosales Gelliza , Roberts Eiry , S. Jeha George , Farber Robert , L. Chan Jean , Ottosson Lars , Baroncelli Marta , Dou Zelong , Nilsson Ola

Introduction: Children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) require glucocorticoid (GC) therapy to replace cortisol insufficiency and reduce excess adrenal androgens. Supraphysiological GC doses are typically required, predisposing patients to GC-related comorbidities. In Phase 2 studies, participants with CAH who received crinecerfont, a novel oral CRF1 antagonist, experienced reduction of the adrenal a...

hrp0095p1-545 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

X-Linked Central Precocious Puberty Associated with MECP2 defects

Canton Ana , Tinano Flavia , Guasti Leonardo , Montenegro Luciana , Ryan Fiona , Shears Deborah , Edna Melo Maria , Gomes Larissa , Piana Mariana , Brauner Raja , Espino Rafael , Escribano-Muñoz Arancha , Paganoni Alyssa , Korbonits Marta , Eduardo Seraphim Carlos , Faria Aline , Costa Silvia , Cristina Krepischi Ana , Jorge Alexander , David Alessia , Argente Jesús , Mendonca Berenice , Brito Vinicius , Howard Sasha , Claudia Latronico Ana

Background: Genetic causes of central precocious puberty (CPP) has been increasingly recognized, extending our knowledge of the triggering factors of human pubertal timing. Distinct etiologies remain to be elucidated in sporadic and familial cases. Methyl-CpG-binding protein 2 (MECP2) is a chromatin-associated protein that can activate or repress gene transcription, playing a role in neuronal maturation. It is encoded by MECP2 gene located at chromoso...

hrp0098p1-215 | Adrenals and HPA Axis 3 | ESPE2024

Who should be screened for electrolyte imbalances in the outpatient endocrinology clinic?

Pop Raluca , Tiuca Robert-Aurelian

Background: Electrolyte imbalance is often encountered in hospitalized patients, with hyponatremia being the most frequent and potentially the most diverse in regards to its etiology, with endocrine causes representing a high proportion. However, the prevalence of hyponatremia in the general pediatric population is still unknown, as the available studies have focused on admitted patients in acute conditions.Aim: The aim ...

hrp0092fc2.1 | Bone, Growth Plate and Mineral Metabolism Session 1 | ESPE2019

Continued Improvement in Clinical Outcomes with Burosumab, a Fully Human Anti-FGF23 Monoclonal Antibody: Results from a 3-Year, Phase 2, Clinical Trial in Children with X-Linked Hypophosphatemia (XLH)

Linglart Agnès , Carpenter Thomas O. , Högler Wolfgang , Imel Erik A. , Portale Anthony A. , Boot Annemieke , Padidela Raja , Van't Hoff William , Mao Meng , Skrinar Alison , Scott Roberts Mary , San Martin Javier , Whyte Michael P.

In children with XLH, excess FGF23 causes hypophosphatemia with consequent rickets, skeletal deformities, and impaired growth and mobility. We previously reported that burosumab improved phosphate homeostasis and rickets in children with XLH. Here, we report final data from this Phase 2 Study CL201 (NCT02163577).Fifty-two children with XLH (5-12 years old, Tanner ≤ 2) were randomized 1:1 to receive subcutaneous burosumab every 2 (Q2W) or 4 (Q4W) we...

hrp0092fc2.2 | Bone, Growth Plate and Mineral Metabolism Session 1 | ESPE2019

Benefits of Long-Term Burosumab Persist in 11 Girls with X-Linked Hypophosphatemia (XLH) Who Transitioned into Adolescence During the Phase 2 CL201 Trial

Boot Annemieke , Carpenter Thomas O. , Högler Wolfgang , Imel Erik A. , Portale Anthony A. , Linglart Agnès , Padidela Raja , Van't Hoff William , Mao Meng , Skrinar Alison , Scott Roberts Mary , San Martin Javier , Whyte Michael P.

In children with XLH, excess FGF23 causes hypophosphatemia with consequent rickets, skeletal deformities, and impaired growth and mobility. We reported that burosumab improved phosphate homeostasis and rickets in children with XLH. Here, we present data on 11/52 subjects (all girls) who developed fused growth plates during the phase 2 study CL201 (NCT02163577).In CL201, 52 subjects (Baseline: 5-12 years-old, Tanner ≤ 2) were randomized 1:1 to recei...

hrp0095fc8.4 | Diabetes and Insulin | ESPE2022

Unravelling environmental and genetic determinants of glycaemic control in children and young adults with Type 1 Diabetes

Robi Antonietta , Catamo Eulalia , Tinti Davide , Dovc Klemen , Tonno Raffaella Di , Barbi Egidio , Bonfanti Riccardo , Franceschi Roberto , Rabbone Ivana , Battelino Tadej , Tornese Gianluca

Achieving adequate glycaemic control in children with type 1 diabetes (T1D) is essential to reduce incidence and progression of microvascular and macrovascular complications. However, factors that influence glycaemic control remain to be understood. The present study aimed to evaluate clinical, personal, genetic and eating behaviour characteristics underlying glycaemic control in T1D. 325 T1D individuals aged 6 and 20 years and with at least 1 year of disease duration have bee...

hrp0095p1-330 | Growth and Syndromes | ESPE2022

The JAMP (Journey around Achondroplasia Medicines and Patients) Project: Results Collected From Two Surveys to clinicians and Patients in Italy

Antoniazzi Franco , Francesca Bedeschi Maria , Boero Silvio , LidonniciDario , Maghnie Mohamad , MoraStefano , Ravasio Roberto , Scarano Gioacchino , Selicorni Angelo , Sessa Marco , Verdoni Fabio , Zampino Giuseppe

Achondroplasia is a rare genetic condition caused by a recurrent pathogenetic variant in the FGFR3 gene resulting in short limb skeletal dysplasia. Due to the wide-ranging anomalies associated with achondroplasia (both peculiar clinical features and complications), a multidisciplinary team is often required for ongoing care, although the nature of specialists involved differs among countries. Despite a European consensus on principles for the management of achondropla...

hrp0092p1-252 | Pituitary, Neuroendocrinology and Puberty (1) | ESPE2019

Brain Malformations and Sellar Spine as Possible Causes of Central Precocious Puberty in a Large Monocentric Study

Fava Daniela , Calandrino Andrea , Morana Giovanni , Gastaldi Roberto , Allegri Anna Elsa Maria , Napoli Flavia , Roviglione Barbara , Di Iorgi Natascia , Maghnie Mohamad

Background: Central precocious puberty (CPP) is defined as the secondary sexual characteristics onset before 8 years of age in females and before 9 in males, due to premature activation of the hypothalamic-pituitary-gonadal axis. The underlying cause remains idiopathic in the great majority; based on the 2009 Consensus, 2% to 7% of girls who have onset of CPP between the ages of 6 and 8 years have unsuspected pathology and only 1% have a tumor such...

hrp0086fc13.3 | Management of Obesity | ESPE2016

Hypothalamic Gliosis in Obese Children and Adolescents

Sewaybricker Leticia E , Cendes Fernando , Schur Ellen A , Melhorn Susan J , Barbosa Silene M , Mendes Roberto T , Velloso Licio A , Guerra-Junior Gil

Background: Obesity is a persistent disorder that almost universally recurs following treatment, suggesting a disruption on central nervous system control over energy homeostasis. Recent literature suggests that hypothalamic inflammation may have an important role on obesity pathogenesis. This inflammatory reaction, which histologically appears as a reactive gliosis, may be detected using magnetic resonance imaging (MRI), and has just been shown in rodent models and adults.</p...