hrp0095p1-297 | GH and IGFs | ESPE2022

rhGH therapy in a patient with homozygous IGF1R mutation

Elisa Amodeo Maria , Deodati Annalisa , Mirra Giulia , Tattesi Giulia , Cianfarani Stefano

Background: IGFR1 gene plays a crucial role in growth and glucose metabolism. IGF1R mutations account for approximately 10% of children born SGA with no catch-up growth. rhGH therapy has been reported moderately effective in stimulating growth of children with heterozygous IGF1R mutation. To date, no data are available about the efficacy of rhGH in patients with homozygous mutations.Case report: We describe a 4 years-old...

hrp0095rfc1.3 | Thyroid | ESPE2022

The importance of extra-endocrine features at infancy in multiple endocrine neoplasia type 2B for early diagnosis

Giulia Mirra , Annalisa Deodati , Maria Elisa Amodeo , D'Aniello Francesco , Armando Grossi , Emanuele Agolini , Marco Cappa , Grazia Maria Ubertini

Background: Multiple endocrine neoplasia type 2B is a rare genetic syndrome caused by germline mutations in the RET proto-oncogene. Approximately 75% of MEN2B cases are sporadic and caused by de novo RET mutations, whereas 25% of cases occurs in families with an autosomal dominant inheritance. The most common RET mutation found in 95% of MEN2B patients is the substitution of the amino-acid threonine for methionine at codon 918. In infants with de novo mutation...

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...

hrp0095p1-125 | Growth and Syndromes | ESPE2022

SHOX gene deletion as part of a contiguous gene syndrome at Xp22.31p22.33 deletions

Elisa Amodeo Maria , Deodati Annalisa , Mirra Giulia , D'aniello Francesco , Bocchini Sarah , Fintini Danilo , Grossi Armando , Cappa Marco , Ubertini Graziamaria

Background: Terminal or interstitial deletions of Xp (Xp22.2→Xpter) in males have been recognized as a cause of contiguous gene syndromes showing variable association of apparently unrelated clinical manifestations such as Leri-Weill dyschondrosteosis (SHOX), chondrodysplasia punctata (ARSE), mental retardation (NLGN4), ichthyosis (STS), Kallmann syndrome (KAL1), and ocular albinism (GPR143).Case reports: We report ...

hrp0095p1-188 | Thyroid | ESPE2022

A case report of Hirschsprung Disease and C Cell Hyperplasia: a new RET gene variant?

d'Aniello Francesco , Ubertini Graziamaria , Mirra Giulia , Elisa Amodeo Maria , Deodati Annalisa , Daniela Iacobelli Barbara , Agolini Emanuele , De Vito Rita , Grossi Armando , Cappa Marco

We report and discuss a case of a girl who at birth underwent surgery for Hirschsprung Disease (HD). To closely investigate her condition, we used a Next Generation Sequencing (NGS) panel to carry out a study of some of the genes known as being associated with congenital megacolon (PHOX-2B, RET, EDN3, GDNF, ASCL1 and BDNF). This analysis showed a maternally inherited heterozygous variant in the RET protooncogene (c.734T>A, p.Val245Glu), which is not described in the scienti...