hrp0095rfc10.1 | GH and IGFs | ESPE2022

Clinical and biochemical predictors of Permanent Growth Hormone Deficiency (PGHD) at retesting

Petraroli Maddalena , Messina Giulia , Gnocchi Margherita , Lattanzi Claudia , D'Alvano Tiziana , Argentiero Alberto , Neglia Cosimo , Dora Patianna Viviana , Maria Roberta Esposito Susanna , Elisabeth Street Maria

Background and Aims: Retesting subjects treated with GH throughout childhood at attainment of final height is of importance to identify those having pGHD and needing replacement treatment during transition years and adulthood, and to avoid overtreatment of GH sufficient subjects. This study aimed at evaluating the clinical and biochemical features of patients diagnosed of isolated idiopathic (II) GHD in childhood at retesting to verify the prevalence of perman...

hrp0095p1-532 | Growth and Syndromes | ESPE2022

Cerebral aneurysms and kidney disease in a child with microcephalic osteodysplastic primordial dwarfism type II: novel homozygous mutation in the PCNT gene.

Petraroli Maddalena , Percesepe Antonio , Piane Maria , Gnocchi Margherita , Messina Giulia , Lattanzi Claudia , D'alvano Tiziana , Dora Patianna Viviana , Ormitti Francesca , Maria Roberta Esposito Susanna , Elisabeth Street Maria

MOPD is known to be caused by homozygous loss-of-function mutations in a specific gene, PCNT. Both intra- and interfamilial clinical variability (even for the same variant) have been frequently observed, which makes it difficult to infer a genotype–phenotype correlation. Pericentrin (PCTN) is a structural protein expressed in the centrosome that plays a fundamental role in anchoring protein complexes, regulating mitotic cycle and thus cell proliferation. High levels of m...

hrp0098rfc13.1 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2024

MRI-based radiomics of the pituitary gland is highly predictive of CentralPrecocious Puberty in girls: pilot study

Petraroli Maddalena , Dora Patianna Viviana , Maddalo Michele , Masetti Marco , Ormitti Francesca , Fulgoni Alice , Gnocchi Margherita , Piccolo Benedetta , Claudia Turco Emanuela , Sverzellati Nicola , Ghetti Caterina , Maria Roberta Esposito Susanna , Elisabeth Street Maria

Introduction: The diagnostic gold standard for Central Precocious puberty (CPP) is the gonadotropin-releasing hormone (GnRH) stimulation test. MR imaging of the brain (MRI) and the hypothalamus-pituitary region is required to exclude organic causes.Objective: The aim of the study was to explore a radiomic model that could assist physicians in the diagnostic workup of CPP.Methods: 4...