hrp0097fc13.3 | Pituitary, neuroendocrinology and puberty 2 | ESPE2023

Variants in Methyl-CpG-binding protein 2 (MECP2) are associated with X-Linked Central Precocious Puberty

E Read Jordan , Guasti Leonardo , Paganoni Alyssa , Korbonits Marta , R Howard Sasha

Whilst several key genetic contributors to the phenotype of central precocious puberty (CPP) have been recognized, many familial cases remain without clear a genetic aetiology. Causal genetic variants are reported in imprinted genes Makorin ring finger protein 3 (MKRN3) and Delta-like homolog 1 (DLK1), alongside Kisspeptin-1 (KISS1) and (KISSR1), implicating mis-regulation of transcriptional control of the kisspeptin and GnRH neuroendocrine systems in onset of CPP. We recently...

hrp0097p1-149 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Evaluation of new cutt-off points of the LHRH stimulation test in the diagnosis of central precocious puberty

Valls Llussà Aina , Murillo Vallés Marta , Martinez Couselo Silvia , Sol Ventura Paula

Introduction: Central precocious puberty (PPC) is defined by the appearance of sexual characters at a chronological age lower than -2.5DS of the average for the reference population. Diagnostic is clinical but the hormonal assessment is essential. Basal gonadotropin values are not enough for the diagnosis. Gonadotropin-releasing hormone (GnRH) stimulation tests evidence the activation of the hypothalamic-pituitary-gonadal axis, however there is controversy abo...

hrp0097p2-51 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Primary hyperparathyroidism in a pediatric patient with tuberous sclerosis

Lucia Feller Ana , Mariana Aziz , Victor Ayarzabal , Ciaccio Marta , Gisela Viterbo

Introduction: Tuberous sclerosis (TS) is a rare, autosomal dominant, multisystem disease with a frequency of 1:6,000-10,000. It is caused by variants in the genes encoding hamartin (TSC 1) and tuberin (TSC 2) that normally act as inhibitors of the mTOR signaling cascade that regulates cell proliferation and migration, angiogenesis, and cell metabolism. The most frequent clinical presentation includes hypochromic macules, angiofibromas, hamartomas in the centra...

hrp0097p2-284 | Late Breaking | ESPE2023

A new approach to estimate bone mineral density in pediatric subjects: Radiofrequency ecographic multi spettrometry (REMS). A comparison with DEXA.

Zoller Thomas , Pietrobelli Angelo , Ferruzzi Alessandro , Gatti Davide , Arrigoni Marta , Munari Stefania , Cavarzere Paolo , Antoniazzi Franco

Introduction: Limitations of the available imaging technique led the introduction of a new quantitative approach ultrasound-based for assessment of bone tissue in pediatric subjects. This new methodology use data from unfiltered radio frequency signals, collected during ultrasonographic acquisition of bone district of interest to estimate the bone mineral density. Advantages of this new technique include absence of radiation exposure, low cost of management an...

hrp0082p3-d2-850 | Growth (3) | ESPE2014

A Follow-up Study up to Adult Height of the Patients Included in the Phase iii Clinical Trial with the Biosimilar Human Recombinant GH (omnitrope®) on the Treatment of Spanish Children with GH Deficit

Borras Victoria , Siguero Juan Pedro Lopez , Martinez Gabriela , Corripio Raquel , Fernanadez Juan , Labarta Jose , Ferrer Marta , Cabrinety Nuria , Prieto Pablo , Ramon Marta , Bosch Jordi , Espino Rafael , Garcia Margarida Palla

Introduction: The results of the phase III clinical trial that evaluated the efficacy and safety of the biosimilar recombinant human GH - rhGH - (Omnitrope®, Sandoz) on the treatment of Spanish children with GH deficiency were published in 2011. At the end of the study those patients that were still growing remained on treatment within the usual clinical practice.Objective: To know the values of adult height of the children who participat...

hrp0095p1-156 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Cushing´s disease in children and adolescents: Experience of a single tertiary center

Gil Silvia , Gonzalez Ramos Javier , Mansilla Celeste , Fernandez Fastuca Laura , Lubieniecky Fabiana , Rugilo Carlos , Ciaccio Marta , Isabel Di Palma Maria

Cushing’s disease (CD) is rare entity especially in pediatric patients. It is associated with significant morbidity. Early diagnosis and treatment is important for optimal outcome.Aim: To evaluate the clinical, biochemical, pathology, treatments and outcome in a cohort of CD pediatrics patients in a single tertiary center.Subjects and Methods: Retrospective review of 27 medical records of CD ...

hrp0092fc15.5 | Late Breaking Abstracts | ESPE2019

Effects of Bifidobacterium animalis subsp. lactis on Children with Prader-Willi Syndrome: A Randomized, Double-Blind, Placebo-Controlled, Crossover Trial

Ramon-Krauel Marta , Amat-Bou Montse , García-Rivera Sonika , Corripio Raquel , Ibáñez Lourdes , Lerin Carles

The gut microbiome has recently emerged as a major contributor to obesity and metabolic disease. Specifically, Bifidobacterium animalis sups. lactis (BAL) has shown promise for obesity treatment in human subjects, improving body composition and metabolic health. Moreover, tryptophan metabolism, a crucial regulator of satiety mechanisms and anxiety, is a main target of BAL. Given that clinical manifestations of Prader-Willi syndrome (PWS) include hyperphagia, ...

hrp0092rfc6.6 | Bone, Growth Plate and Mineral Metabolism Session 2 | ESPE2019

Genetic Aetiology Predicts Growth Hormone (GH) Treatment Outcomes in Children Born Small-For-Gestational-Age with Persistent Short Stature (SGA-SS). Lessons from a Single-Centre Cohort

Lebl Jan , Toni Ledjona , Plachy Lukas , Kucerova Petra , Elblova Lenka , Sumnik Zdenek , Kolouskova Stanislava , Snajderova Marta , Obermannova Barbora , Pruhova Stepanka

Background: SGA-SS, defined as birth weight and/or birth length below -2SD for gestational age and postnatal statural height below -2.5SD according to age- and sex-specific standards, is a heterogeneous condition reflexing exogenous (maternal, placental) or endogenous (foetal) inadequacies. Within the past two decades, a handful of genetic causes of SGA-SS have been elucidated. However, how each genetic aetiology impacts individual GH treatment outcomes awaits...

hrp0092rfc9.3 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Neonatal Screening for Congenital Hypothyroidism: Analysis of a Large Coorte of Affected Patients (1987-2017) and Relationship with Perfluoroalkylated Substances (Pfas) in North-Eastern Italy

Gaudino Rossella , Beccherle Federico , Cavarzere Paolo , Lauriola Silvana , Camilot Marta , Teofoli Francesca , Vincenzi Monica , Rizzoli Christian , Antoniazzi Franco

Background: Recent studies have analyzed the influence of perfluoroalkylated substances – PFAS (in particular PFOS and PFOA) on people and thyroid. Children are primaly affected by these pollutants. On the other side variation of incidence of congenital hypothyroidism (CH) has been shown in recent years by different studies. We sought to determine whether the incidence of CH in north-eastern Italy has changed in relation to some endocrine disruptors and t...

hrp0092rfc9.6 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Extra Uterine Growth Restriction (EUGR) in Very Low Birth Weight Infants: Growth Recovery and Neurodevelopment by the Corrected Age of 2 Years Old

Lucaccioni Laura , Arrigoni Marta , Della Casa Elisa , Bertoncelli Natascia , Predieri Barbara , Berardi Alberto , Pugliese Marisa , Ferrari Fabrizio , Iughetti Lorenzo

Background: Extra Uterine Growth Restriction (EUGR) represents a serious comorbidity in infants born very low birth weight (VLBW). In fact, failure in postnatal growth and malnutrition at vulnerable ages can interfere with growth recovery and neurodevelopment at older ages.Hypothesis: Aim of the study was to assess whether and how the postnatal early growth patterns of VLBW may affect later growth, spontaneous motility a...