hrp0095p1-559 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Circulating MKRN3 levels in 5 CPP girls with MKRN3 gene mutation

Aiello Francesca , Palumbo Stefania , Cirillo Grazia , Luongo Caterina , Festa Adalgisa , Miraglia Del Giudice Emanuele , Grandone Anna

Background: MKNR3 is a paternally expressed gene whose loss-of-function mutations cause Central precocious puberty (CPP). The precise molecular disruption produced by MKRN3 mutations remains unclear albeit protein structure suggests MKRN3 could play a role in proteasome ubiquitination. Circulating MKRN3 levels has been negatively associated to LH peak, estradiol and kisspeptin in idiopathic CPP and healthy controls. However, no literature data is available for...

hrp0092p1-354 | Fat, Metabolism and Obesity (2) | ESPE2019

Association Between Adiposity Measures and Metabolic Variables in Children and Adolescentswith Obesity

Umano Giuseppina Rosaria , Di Sessa Anna , Cirillo Grazia , Ursi Davide , Marzuillo Pierluigi , Miraglia Del Giudice Emanuele

Childhood obesity has become a major health issue in the last decades. Moreover, identifying a simple, feasible, and valid screening tool to select subjects at higher risk for obesity-related comorbidities has become a challenge. Current guidelines reccommend to use BMI percentile for overweight and obesity diagnosis. However, waist-to-height ratio (WHR) has been associated with the risk of metabolic derangement in children and adolescents with overweight and obesity. In addit...

hrp0089p1-p129 | Fat, Metabolism and Obesity P1 | ESPE2018

Early Menarche is Associated with Insulin Resistance and Non-Alcoholic Fatty Liver Disease in Obese Adolescents

Di Sessa Anna , Grandone Anna , Marzuillo Pierluigi , Miraglia del Giudice Emanuele

Background: Menarche is a significant event in the reproductive life of a woman and represents the late event in puberty indicating that a sexually immature child has become reproductively capable. Even though the timing of puberty onset is approximately conserved in different populations, the puberty starts across a wide range of ages in normal girls. However, in the last decades we are observing that girls are experiencing earlier breast development and earlier menarche, als...

hrp0097fc6.1 | Pituitary, neuroendocrinology and puberty 1 | ESPE2023

Methylome analysis in idiopathic central precocious puberty girls

Palumbo Stefania , Giurato Giorgio , Cirillo Grazia , Miraglia del Giudice Emanuele , Palumbo Domenico , Grandone Anna

Background: Although the transition from the pre-pubertal condition to puberty occurs physiologically within a bounded age range, recent data indicate a central role for epigenetics in the regulation of several genes that could mediate an alteration of pubertal onset. Moreover, changes occurring during this developmental stage have often been associated with susceptibility to a wide range of diseases in later life. To identify changes in DNA methylation profil...

hrp0097p2-271 | Late Breaking | ESPE2023

Craniosynostosis in Patients With X-Linked Hypophosphatemia: a monocentric experience

Grandone Anna , Luongo Caterina , Aiello Francesca , Romano Francesca , Miraglia Del Giudice Emanuele , Aliberti Ferdinando

Introduction: X-linked hypophosphatemic rickets (XLHR) represents the most common form of genetic hypophosphatemia and causes rickets in children because of increased FGF23 secretion and renal phosphate wasting. Even though cranial vault an craniovertebral anomalies of potential neurosurgical interest, namely early closure of the cranial sutures and Chiari type I malformation (CM-I), have been observed in children with XLH, their actual incidence and character...

hrp0098rfc6.1 | Fat, Metabolism and Obesity 1 | ESPE2024

Frequency of genetic variants in a population with early-onset obesity: a single center experience

Rosaria Umano Giuseppina , Rondinelli Giulia , Di Sessa Anna , Cirillo Grazia , Miraglia del Giudice Emanuele

Genetic obesity is rare and usually affects the hunger/satiety circuit. Monogenic obesity is mainly due to variants in genes of the leptin-melanocortin pathway which regulates the control of food intake. Melanocortin 4 receptor (MC4R)-linked obesity has been reported as one of the most common forms of monogenic obesity. Mutations in the MC4R gene have been described in 2-3% of obese children and adults with variable severity of obesity and no additional phenotype. Syndromic ob...

hrp0098p3-327 | Late Breaking | ESPE2024

Novel homozygous RTTN variant causing post-natal microcephaly, dwarfism, intellectual delay and micropenis: a case report.

Aiello Francesca , Festa Adalgisa , Palumbo Stefania , Cirillo Mario , Santoro Claudia , Miraglia del Giudice Emanuele , Grandone Anna

Background: Autosomal recessive primary microcephaly (MCPH; “small head syndrome”) is a rare, heterogeneous disease arising from the decreased production of neurons during brain development. 25 genes are implicated in causing MCPH among them the RTTN gene. Here we present the case of a boy from two unrelated parents presenting with a complex phenotype carrying a novel mutation in the RTTN gene.Case Pr...

hrp0095rfc11.3 | Late Breaking | ESPE2022

Predictors of kidney damage development in children with metabolically healthy and metabolically unhealthy obese phenotypes

Di Sessa Anna , Paride Passaro Antonio , Maria Colasante Alberto , Ferrara Serena , Rosaria Umano Giuseppina , Marzuillo Pierluigi , Miraglia del Giudice Emanuele

Background: A close association has been reported between obesity and renal damage in adults, but evidence in childhood is still limited.Methods: We retrospectively studied 396 children and adolescents with obesity. Clinical, biochemical, and instrumental evaluations were performed. Patients were stratified according to the metabolically healthy obesity (MHO) and metabolically unhealthy obesity (MUO) phenotypes. Kidney d...

hrp0095p1-78 | Fat, Metabolism and Obesity | ESPE2022

Obstructive sleep apnea (OSA) is associated with the impairment of beta-cell response to glucose in children and adolescents with obesity

Rosaria Umano Giuseppina , Galderisi Alfonso , Aiello Francesca , Martino Mariangela , Di Sessa Anna , Marzuillo Pierluigi , Miraglia del Giudice Emanuele

Purpose: The main purpose of the study is to assess the association between obstructive sleep apnea (OSA) and insulin secretion in children with obesity.Objectives: To achieve our aim we have assessed OSA and measured insulin secretion by the using the oral minimal model (OMM) in a cohort of 77 obese children and adolescents.Methods: We retrospectively enrolled children and adolesc...

hrp0095p1-139 | Multisystem Endocrine Disorders | ESPE2022

“Cushing’s syndrome in a girl with Carney Complex: a case report”

Rivetti Giulio , Caterina Luongo , Aiello Francesca , Miraglia Del Giudice Emanuele , Marzuillo Pierluigi , Di Iorio Giovanni , Pellino Valeria , Grandone Anna

Background: Carney complex (CNC) is a rare autosomal dominant multiple endocrine neoplasia and lentiginosis syndrome, characterized by abnormal cutaneous and mucosal pigmentation, myxomas of the heart, skin, breast and other non-endocrine tumors. CNC is principally caused by loss-of-function mutations of PRKAR1A gene located at 17q22-24 coding for the regulatory subunit type I alpha of protein kinase A (PKA) gene. Cushing’s syndrome is a rare disorder in...