hrp0095p1-115 | Growth and Syndromes | ESPE2022

Validation of referral criteria for growth monitoring in Flanders based on height at the start of GH therapy in children with growth hormone deficiency and Turner syndrome

Klink Daniel , Logghe Karl , Thomas Muriel , Roelants Mathieu , Van Hoeck Katelijne , Lysy Philippe , Becker Marianne , Staels Willem , de Schepper Jean

Background/Aims: Length and weight of all children in Flanders are monitored every three years at school from the age of 3 years. The current criteria used for referral to specialized care are: height SDS < -2.5, height SDS between -2 and -2.5 SDS with a height SDS adjusted for parental height < -1.64, or a decrease in height SDS of more than 1 SDS in the past 3 years. The aim of this study is to investigate the sensitivity of the Flemish referral criter...

hrp0094p2-408 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Plexiform neurofibroma of the penis as an infrequent manifestation debut in a pediatric patient

Peña Fernanda , Martínez Alejandro , García Cristian , Dossi Teresa , Kolbach Marianne , Mellado Cecilia , Baquedano Paulina

Background: Neurofibromatosis type 1 (NF1) caused by loss of function mutation in the NF1 gene; leads to the hyperactivation of RAS and its downstream mediators and contributes to tumour formation. The main manifestations of NF1 are café au lait macule, axillary and/or inguinal freckling. Neurofibroma plexiform is specific for NF1 and identified on the face and trunk. Urogenital presentation is infrequent in the penis. Identification of this lesion is essential because it...

hrp0097p1-562 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Concurrent premature gonadotrophic activation and gonadal insufficiency in young girls with a brain tumor

Evelein Annemieke , Schouten - Van Meeteren Netteke , Bakker Boudewijn , Gidding Corrie , Van der Wetering Marianne , Van Santen Hanneke

Background: It is well known that endocrine comorbidities occur frequently in children with cancer, especially in those with a brain tumor. In those children, increased intracranial pressure or hydrocephalus may lead to central precocious puberty. Furthermore, chemotherapy, especially alkylating agents, increases the risk for gonadal insufficiency. In this case series we describe 3 young girls with a brain tumor, who develop premature gonadotrophic activation,...

hrp0098p1-77 | Multisystem Endocrinology | ESPE2024

An atypical presentation of McCune Albright syndrome

Bonnet Nicolas , Laurent Romain , Van-Nieuwenhuyse Jean-Paul , Becker Marianne , De Beaufort Carine , Schierloh Ulrike , Witsch Michael , Ghaddhab Chiraz

McCune-Albright syndrome (MAS) is a rare genetic disorder caused by somatic activating mutations in the GNAS gene. Depending on the embryonic stages at which the mutation occurs, the phenotype of MAS may vary widely. Typical features include polyostotic fibrous dysplasia, café-au-lait skin lesions and multiple endocrinopathies, most frequently a peripheral precocious puberty. More rarely, patients have a liver involvement. We report the case of a 2 years-old boy with a ...

hrp0095p2-111 | Fat, Metabolism and Obesity | ESPE2022

Gamma-Glutamyl Transferase (GGT) and The GGT / High-Density Lipoprotein (HDL) Ratio: Useful Tools for Identification of OBESE Children with Insulin Resistance

Nuzio Salvatore Guercio , Livio D'Isanto

Introduction: The role of gamma-glutamyl transferase (GGT) enzyme as a marker of insulin resistance (IR) in pediatric obesity is well known. Recent evidence, mainly in the adult population, has identified GGT/High-Density Lipoprotein (HDL) ratio as a risk index for hepatic steatosis. The study has the purpose of examining the relationship between GGT, GGT/HDL ratio and the clinical/laboratory data of a group of obese Italian children living in the province of ...

hrp0092fc3.2 | Multi-system Endocrine Disorders | ESPE2019

CFTR Loss-of-Function has Effects on microRNAs (miRNAs) that Regulate Genes Involved in Growth, Glucose Metabolism and in Fertility in in vitro Models of Cystic Fibrosis

Cirillo Francesca , Catellani Cecilia , Graziano Sara , Montanini Luisa , Smerieri Arianna , Lazzeroni Pietro , Sartori Chiara , Marmiroli Nelson , Amarri Sergio , Gullì Mariolina , Elisabeth Street Maria

Cystic Fibrosis (CF), is due to CF-transmembrane-conductance-regulator (CFTR) loss-of-function. Significant heterogeneity exists between patients, suggesting potential epigenetic regulation, and comorbidities develop with time. MiRNAs are non-coding RNAs that act as epigenetic regulators. Although many studies have focused on the role for miRNAs in regulating CFTR gene expression, little attention has been given to how CFTR influences their expression and how this affects grow...

hrp0092p2-8 | Adrenals and HPA Axis | ESPE2019

Novel TBX19 Mutation as Cause of Hypoglicemia in Two Siblings

Castagna Andrea , Bottero Arianna , Ruggiero Jessica , Viola Anna , Perrotti Chiara , Oprandi Daniela , Rossi Stefano , Badolato Raffaele , Cutrì Maria Rosa , Mingotti Chiara , Grazzani Livia , Buzi Fabio , Pilotta Alba

We describe a female neonate born from consanguineous parents who presented at birth with respiratory distress and severe hypoglycemia. At six months of age, the child was admitted to the Intensive care Unit because of two critical episodes characterized by fever and loss of consciousness. Child condition were critical and suggestive of sepsis, but blood tests showed severe hypoglycemia (19 mg/dl), hyponatremia (Na 132 mmol/l), compensated metabolic acidosis and increased infl...

hrp0097p1-75 | Fat, Metabolism and Obesity | ESPE2023

Newer anthropometric indexes predicting insulin resistance in Greek children and adolescents with overweight and obesity

Giza Styliani , Ntouma Stergianna , P Kotanidou Eleni , Rengina Tsinopoulou Vasiliki , Kampani Eleftheria , I Sakellari Eleni , Galli-Tsinopoulou Assimina

Introduction: Body mass index (BMI) and waist circumference (WC) are the main anthropometric measures of obesity. However, their inability to take into account body fat distribution raises queries for their predictive value of insulin resistance (IR) in youth.Aim: The aim of this study is to compare BMI and WC with latest anthropometric indices in the assessment of IR in a paediatric Greek population with overweight and ...

hrp0095p1-475 | Fat, Metabolism and Obesity | ESPE2022

The Impact of Acute Exercise on 12,13-Dihydroxy-9Z-Octadecenoic Acid (12,13-DiHOME) Levels in Male Adolescents with Obesity

Ercan Oya , Gurup Aybüke , Tarçın Gürkan , Yakal Sertaç , Turan Hande , Şahinler Ayla Sibel , Boztürk Güngör Zeynep

Aim: 12,13-dihydroxy-9Z-octadecenoic acid (12,13-diHOME) is a lipokine secreted from brown adipose tissue, and it is shown to have positive effects on dyslipidemia. Acute exercise have been shown to lead to an increase in its secretion. It was aimed to investigate the relation of 12,13-diHOME with obesity, exercise and dyslipidemia for the first time in the adolescent age group.Methods: This is a prospective study includ...

hrp0095p1-396 | Thyroid | ESPE2022

A rare cause of acquired von Willebrand factor deficiency: Primary hypothyroidism due to autoimmune thyroiditis

Dağdeviren Çakır Aydilek , Yıldız Yıldırmak Zeynep , Eren Simge , Mısırlı Özdemir Ebru , Özdemir Mustafa , Ucar Ahmet

In children, autoimmune thyroiditis is often diagnosed with signs and symptoms such as goiter, short stature, and constipation. Delayed diagnosis of hypothyroidism may result in atypical signs and symptoms at presentation, depending on the severity of hypothyroidism. Von Willebrand disease (vWD) is the most common bleeding disorder caused by the quantitative or qualitative deficiency of von Willebrand factor (vWF). Acquired vWD (avWD) is a disorder characterized by low levels ...