hrp0095p1-346 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

In between isolated premature thelarche and central precocious puberty: when DHEAS makes the difference

Rodari Giulia , Collini Valentina , Giacchetti Federico , Profka Eriselda , Dall'Antonia Alberta , Arosio Maura , Giavoli Claudia

Background: Precocious puberty (PP) in girls is most frequently an idiopathic gonadotropin-releasing hormone (GnRH)-dependent PP, being thelarche the typical first sign. It is well established that increased dehydroepiandrosterone sulphate (DHEAS) levels are associated with premature adrenarche and may characterize PP too. However, its relationship with signs of hypothalamic-pituitary-gonadal (HPG) axis activation and estrogen exposure is still to be elucidate...

hrp0092p2-64 | Diabetes and Insulin | ESPE2019

Autoimmune Thyroid Diseases in Children and Adolescents with Maturity Onset Diabetes of the Young

Calcaterra Valeria , Regalbuto Corrado , Dobbiani Giulia , Vinci Federica , Montalbano Chiara , Larizza Daniela

Background and Aim: The relationship between T1DM and autoimmune thyreopathies is known and described, but the relationship between thyreopathies and other type of diabetes is not sufficiently clarified in pediatric age. The aim of our study was to assess the prevalence of autoimmune thyroid diseases (ATD) in children and adolescents with maturity onset diabetes of the young (MODY) in comparison with patients with T1DM and control group....

hrp0086p2-p406 | Gonads & DSD P2 | ESPE2016

The Experience of GAIA (Abuse Childhood and Adolescence Group) – AOU Meyer

Losi Stefania , Anzilotti Giulia , Scalini Perla , De Martino Maurizio , Stagi Stefano

Background: GAIA is a health service of Meyer Children Hospital composed of a multidisciplinary team specialized in the management of children victims of child abuse. Sexual abuse occurs when a child is engaged in sexual activities that cannot comprehend, for which the child is developmentally unprepared and cannot give consent, and/or that violate the law or social taboos of society. The sexual activities may include all forms of oral-genital, genital, or anal contact by or t...

hrp0086p2-p794 | Pituitary and Neuroendocrinology P2 | ESPE2016

An Unusual Association between Empty Sella and Central Precocious Puberty

Anzilotti Giulia , Losi Stefania , Bencini Erica , Scalini Perla , de Martino Maurizio , Stagi Stefano

Background: Empty sella refers to the radiographic appearance of an enlarged or deformed sella turcica and it is considered a rare occurrence in childhood. Many reports have suggested that it is associated with hypothalamic-pituitary dysfunction, with a high prevalence of growth hormone deficiency, as well as multiple pituitary hormone deficiency, idiopathic delayed puberty and isolated diabetes insipidus.Objective and hypotheses: We describe the case of...

hrp0086p1-p818 | Syndromes: Mechanisms and Management P1 | ESPE2016

Haploinsufficiency of Short Stature Homeobox Containing Gene: Clinical Signs and Anthropometric Measurements in Children

Genoni Giulia , Monzani Alice , Castagno Matteo , Giordano Mara , Prodam Flavia , Bellone Simonetta , Bona Gianni

Background: Haploinsufficiency of short stature homeobox containing gene (SHOX) is one of the main monogenic causes of short stature. The phenotype of SHOX deficiency (SHOX-D) is often mild, making difficult to identify which short-statured children should be screened.Objective and hypotheses: To estimate the prevalence of SHOX-D in Italian short-statured children and to analyse their phenotype and the sensitivity of various scores and anthropometric mea...

hrp0082fclb5 | Late Breaking Abstracts | ESPE2014

CB2 Polymorphism Could Modulate the Relationship Between Childhood Obesity and Age at Menarche

Grandone Anna , Bellini Giulia , del Giudice emanuele Miraglia , Perrone Laura , Rossi Francesca

Background: There is an emerging evidence that the ovary may be an important site where genes such as LIN28b, whose polymorphisms has been strongly associated to age at menarche, could modulate the timing of puberty. Recent data suggest that the endocannabinoid system plays a role in folliculogenesis and ovulation, through cannabinoid receptor 2 (CB2) expressed in the ovary. On the other hand childhood obesity is associated with increased likelihood of early menarche,...

hrp0084p3-844 | Fat | ESPE2015

The Risk of Metabolic Syndrome among Dyslipidemic Children and Adolescents

Predieri Barbara , Colombini Giulia , Mazzoni Silvia , Bruzzi Patrizia , Lucaccioni Laura , Iughetti Lorenzo

Background: Lipid assessment is emerging as a useful and easy detectable tool to define the overall cardiovascular risk in children and adolescents. Nevertheless, no all dyslipidemic patients suffer the same cardiometabolic consequences.Objective and hypotheses: To compare anthropometric, biochemical and blood pressure variables among dyslipidemic children and adolescents according to the presence of metabolic syndrome (MetS).Metho...

hrp0094fc3.1 | Growth Disorders | ESPE2021

iPPSD: focus on neonatal features, preliminary data from a retrospective analysis of a large cohort of patients.

Del Sindaco Giulia , Pagnano Angela , Berkenou Jugurtha , Rothenbuhler Anya , Arosio Maura , Mantovani Giovanna , Linglart Agnes ,

Since the first description of pseudohypoparathyroidism (PHP), a remarkable clinical variability, which translates in several PHP subtypes, was observed. In 2016 a new classification of this group of diseases have been published by the European Network on PHP and related disorders, proposing “inactivating PTH/PTHrP signaling disorder” (iPPSD) as a new term that encompasses all the clinical entities, stressing the common mechanism responsible for all diseases. iPPSDs ...

hrp0094p2-477 | Thyroid | ESPE2021

L-T4 absorption test in 14-year-old patient with severe refractory hypothyroidism after total thyroidectomy

Vincenzi Gaia , Di Stefano Marina , Abbate Marco , Tarantola Giulia , Barera Graziano , Vigone Maria Cristina

Hypothyroid patients post-thyroidectomy require 1.6-1.8 mg/kg/die of Levothyroxine (L-T4). A persistent TSH level above the upper limit despite a daily dose >1.9 mg/kg/die is defined as “refractory” hypothyroidism in adults. Malabsorption and “pseudo-malabsorption” need to be investigated in case of therapeutic failure. L-T4 absorption test (LT4AT) is useful in distinguishing these two conditions but it has only been described in adult age. We ...

hrp0094p2-313 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Co-occurrence of Turner (46,X-ring/45,X0 mosaicism) and Mayer-Rokitansky-Kuster-Hauser Syndromes: a case report

Ocello Laura , Ramponi Giulia , Maitz Silvia , Marco Santo Di , Adavastro Marta , Biondi Andrea , Cattoni Alessandro ,

Introduction: The co-occurrence of Turner Syndrome (TS) and Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKHS) has been rarely described in literature. The resulting clinical picture includes congenital aplasia of the uterus and of the upper two-thirds of the vagina and ovarian dysgenesis.Case Report: We hereby report the case of a 14-year-old girl referred to our endocrine outpatient clinic for pubertal delay. Her previous medical history ...