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...

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...

hrp0094p2-70 | Bone, growth plate and mineral metabolism | ESPE2021

Phenotype characterization of a PHEX intron mutation in an Italian family affected by X linked hypoposphatemic rickets.

Aiello Francesca , Schiano di Cola Roberta , Luongo Caterina , Maltoni Giulio , Cassio Alessandra , Festa Adalgisa , Pasquali Daniela , Del Giudice Emanuele Miraglia , Grandone Anna ,

Introduction: X-linked hypophosphatemia (XLH) is a rare hereditary condition caused by mutation in the gene encoding the phosphate-regulating endopeptidase homolog, X-linked (PHEX). It is characterized by altered phosphate homeostasis with persistent hypophosphatemia and hyperphosphaturia resulting in deficient skeletal mineralization, rickets, bone deformity, growth failure, dental problems, joint pain and impairment.Case Prese...

hrp0095p1-529 | Growth and Syndromes | ESPE2022

A case of Silver Russell Syndrome-like phenotype with abnormal methylation of the imprinted GNAS locus (20q13)

Festa Adalgisa , Luongo Caterina , Aiello Francesca , Santoro Claudia , Piluso Giulio , Torella Annalaura , Del Vecchio Blanco Francesca , Nigro Vincenzo , Miraglia del Giudice Emanuele , Grandone Anna

Background: Silver Russell Syndrome (SRS) is characterized by pre- and postnatal growth failure, relative macrocephaly at birth, prominent forehead, feeding difficulties and body asymmetry. The diagnosis is clinical, the genetic mechanisms involved are different, in 50% of cases loss of methylation (LOM) at the paternal H19/IGF2:IG-DMR (chr11p15.5), in 10% of cases maternal uniparental disomy of chromosome 7 (UPD(7)mat), cases of maternal uniparental ...