hrp0086p1-p816 | Syndromes: Mechanisms and Management P1 | ESPE2016

A Case of Patient with Rubinstein-Taybi Syndrome Type 2 with Complete Deletion of EP300 Gene and Complex Phenotype

Santoro Elisa , Marini Romana , Novelli Antonio , Alesi Viola , Dentici Maria Lisa , Cappa Marco

Background: Rubinstein-Taybi syndrome (RSTS) is a rare genetic syndrome characterized by postnatal growth retardation, intellectual disability, microcephaly, peculiar facial features, broad thumbs and big toes and other organs malformations. There are two forms: RSTS type 1 characterized by CREBBP gene mutations (16p13.3); RSTS type 2 dues to mutations/ deletions in EP300 gene (22q13.2). The type 2 is associated with mild phenotype with possible absence of the typical diagnost...

hrp0097p1-251 | Fat, Metabolism and Obesity | ESPE2023

Overweight and obesity in childhood and adolescence is associated with an increased fracture risk - Results of a systematic literature review

Brandt Stephanie , Schroth Viola , Wabitsch Martin

Introduction: Up to now, no systematic literature review has studied whether overweight or obesity compared to normal weight in childhood and adolescence is associated with an increased fracture risk (fractures overall and by site).Methods: The systematic literature search was conducted in PubMed/Medline, Embase, Cochrane Library, BIOSIS databases using defined keywords and MeSH terms. 1,677 publications were identified ...

hrp0092p1-42 | Fat, Metabolism and Obesity | ESPE2019

De-novo and Depot-Specific Androgen Production in Human Adipose Tissue - a Source of Hyperandrogenism in Obese Females

Wagner Isabel Viola , Sahlin Lena , Kulle Alexandra , Klöting Nora , Döbeln Viola , Savchuk Iuliia , Dötsch Jörg , Söder Olle

Background: Obesity in females is often associated with metabolic complications and hyperandrogenism but the role of adipose tissue (AT) in androgen synthesis remains unclear.Aims/Objectives: Employing human subcutaneous and visceral AT and cultured adipocytes, we studied whether AT could be a source of androgens promoting hyperandrogenism in lean and especially in obese females.Methods</st...

hrp0095p1-487 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Early-Life Exposure to Phthalates in A Population of Infants from The North of Italy: Characterization and Time Trends

Lucaccioni Laura , Righi Elena , Trevisani Viola , Passini Erica , Palandri Lucia , Bruzzi Patrizia , Predieri Barbara , Iughetti Lorenzo

Background: Phthalates are ubiquitous environmental contaminants and endocrine-disrupting chemicals (EDCs). Nowadays, they are considered reproductive toxicants and in-utero exposure is well documented, although evidence of early life exposure is scarce, and needs to be described. Aim of this study is to assess phthalate exposure and its changes over the first months of life in a cohort of healthy full term infants and their mothers from a restricted area of t...

hrp0095p1-349 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Use of Urinary Gonadotropins for The Evaluation of the Minipubertal Profile in Term Newborns and Infants Within The First Six Months of Age

Lucaccioni Laura , Trevisani Viola , Passini Erica , Palandri Lucia , Bruzzi Patrizia , Predieri Barbara , Righi Elena , Iughetti Lorenzo

Background: The activation of the hypothalamus-pituitary-gonadal (HPG) axis during the first months both in males(M) and females(F) is named as minipuberty. Urinary gonadotropins (uGn) represent an unexpensive and non-invasive method of assessing pubertal development and they have recently been used also for studying minipuberty.Aims of the study are: 1) to describe the urinary hormonal pattern (uLH, uFSH, testosterone – uT, oestra...

hrp0095p1-172 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Diabetes type 1 can induce testicular atrophy with Leydig cell hyperplasia and germ cell depletion and therefore prevents reproductive function and fertility in rats

Viola Wagner Isabel , Kloeting Nora , Kulle Alexandra , Rieck Karen , Söder Olle , Hiort Olaf

Research Aim: Diabetes type 1 can negatively influence testicular function and fertility but the pathomechanisms on the testicular level remain to be elucidated. Therefore, the aim of the study was to evaluate effects of diabetes mellitus type 1 disease on testicular function.Material and Methods: BB/OKL rats developed type 1 diabetes during adolescence. Rats were treated with different Insulin implants to achieve suffic...

hrp0097p1-237 | Diabetes and Insulin | ESPE2023

Effects of the COVID-19 pandemic on anthropometric data, glycemic control, and lipid levels in children and young people with type 1 diabetes: two years of follow-up

Iughetti Lorenzo , Candia Francesco , Stefanelli Francesca , Trevisani Viola , F. Madeo Simona , Bruzzi Patrizia , Predieri Barbara

Introduction: The beginning of the COVID-19 pandemic encouraged a sedentary lifestyle and “covibesity” was reported. Concerns for consequences on anthropometric data, glycemic control, and lipid profile in subjects with type 1 diabetes (T1D) were raised.Objectives: Longitudinal and observational study aimed to investigate the 2-years effects of the COVID-19 pandemic on BMI, glycemic control, and lipid profile...

hrp0097p1-178 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Inhibin B- a functional marker to screen gonadal function in CAIS patients?

Viola Wagner Isabel , Tyutyusheva Nina , Bertelloni Silvano , Doehnert Ulla , Simon Frielitz Fabian , Hiort Olaf

Introduction and objective: Gonadectomy was carried out for a long time after the diagnosis of complete androgen insensitivity syndrome (CAIS). It is now recommended to leave the gonads in situ in order to guarantee endogenous hormone production. It is unclear how best to clinically monitor testicular function. The aim of the study was to investigate whether inhibin B can be used as a future follow-up parameter to screen for gonadal function in CAIS p...

hrp0095fc9.2 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Can pre-treatment BMI influence long-term anthropometric and metabolic outcomes in girls with idiopathic central precocious puberty treated with GnRHa?

Bruzzi Patrizia , Sandoni Marcello , Valeri Lara , Trevisani Viola , Dalla Porta Francesca , Filomena Madeo Simona , Lucaccioni Laura , Predieri Barbara , Iughetti Lorenzo

Background: Gonadotropin releasing hormone analogs (GnRHa) are effective in improving adult height in children with precocious onset of puberty, rapid progression, and good growth potential. In last years, however, some transient metabolic complications have been described during the treatment without the reassurance of long-term data yet. The aim of our study is to clarify if body mass index (BMI) at diagnosis of idiopathic central precocious puberty (iCPP) c...

hrp0095p1-254 | Diabetes and Insulin | ESPE2022

Auxological parameters and metabolic control in children and young patients with type 1 diabetes 1-year after COVID-19 pandemic.

Iughetti Lorenzo , Bruzzi Patrizia , Caccamo Paola , Di Caprio Antonella , Lucaccioni Laura , F. Madeo Simona , Trevisani Viola , Predieri Barbara

Introduction: COVID-19 pandemic, by restricting outside activities, encouraged a sedentary lifestyle due to social distancing and, alongside, an increase in the consumption of canned food and industrialized foods, resulting in a negative impact on the growth of children and young people (CYP). Concerns for consequences in CYP with type 1 diabetes (T1D) rose.Objectives: To investigate 1-year effects of the COVID-19 pandem...