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 ...

hrp0097p1-557 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Novel LHX4 rare variant in three patients affected by congenital hypopituitarism, presenting a further co-occurrent desease causing variants in GLI2 and IGF1R

Aiello Francesca , Luongo Caterina , Pascarella Filomena , Rosaria Licenziati Maria , Laura Torella Anna , Del Vecchio Blanco Francesca , miraglia del giudice emanuele , Nigro vincenzo , Santoro Claudia , grandone anna

Background: Congenital hypopituitarism (CH) genetics is highly heterogeneous. The massive use of NGS identified at least 21 desease causing genes. Not fully understood inheritance mechanism, incomplete penetrance and variable expressivity explain the complexity of phenotype-genotype correlations. To further complicate the scenario, the co-occurence of more than one desease-causing genes variants can geopardize the phenotype. Herein, we report the heterogeneous...