hrp0095p1-265 | Fat, Metabolism and Obesity | ESPE2022

A point mutation of SH2B1: a new cause of monogenic obesity?

CriscuoloSabrina , Ubertini Graziamaria , d'Aniello Francesco , Mirra Giulia , Mucciolo Mafalda , Elisa Amodeo Maria , Deodati Annalisa , Rapini Novella , Cappa Marco

Early identification of monogenic obesity, a rare condition, is quite challenging for pediatricians. Src-homology-2 (SH2) B adapter protein 1 (SH2B1) is an important component in the leptin-melanocortin pathway and it is found to play an important role in leptin and insulin signaling. In humans a rare deletion of a 220-kb region on chromosome 16p11.2 encompassing approximately 9 genes, including the SH2B1 gene, is associated with a highly penetrant form of isolated severe earl...

hrp0095p1-164 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Familial Central Precocious Puberty: a case of three siblings with MKRN3 mutation

d'Aniello Francesco , Ubertini Graziamaria , Elisa Amodeo Maria , Mirra Giulia , Criscuolo Sabrina , Mucciolo Mafalda , Fintini Danilo , Cappa Marco

Introduction: We report a series of three siblings, two girls and one boy, diagnosed with Central Precocious Puberty (CPP) respectively at the age of 5.66, 6.67 and 8.5 years, carrying a mutation in the gene encoding the makorin RING finger protein 3 (MKRN3), usually responsible for the development of familial CPP.Methods: We diagnosed CPP in all the patients by performing a GnRH test. We also dosed basal levels of LH, F...

hrp0095p1-247 | Diabetes and Insulin | ESPE2022

Monogenic diabetes clinic: 3-year experience

Rapini Novella , Ippolita Patera Patrizia , Schiaffini Riccardo , Ciampalini Paolo , Pampanini Valentina , Cristina Matteoli Maria , Deodati Annalisa , Bracaglia Giorgia , Porzio Ottavia , Novelli Antonio , Mucciolo Mafalda , Cianfarani Stefano , Barbetti Fabrizio

Background: In Italy monogenic forms of hyperglycemia account for more than 6% of cases referred to pediatric diabetes clinics. In January 2019 we started a Monogenic Diabetes Clinic (MDC) with the three main aims: a) implementing a standardized pathway towards genetic testing, 2) ease the revision of complex cases, 3) implement standardized therapies for monogenic diabetes mellitus (MDM) subtypes.Methods: Type 1 diabete...