hrp0095p1-130 | Growth and Syndromes | ESPE2022

Osteogenesis imperfecta / Ehlers–Danlos (OI/EDS) overlap syndrome associated with a new COL1A1 variant (c.3235G>A, p.Gly1079Ser) in a girl with severe short stature and neuroblastoma

Letteria Anna Morabito , Elsa Maria Allegri Anna , Paola Capra Anna , Corica Domenico , Capasso Mario , Capra Valeria , Garaventa Alberto , Maghnie Mohamad , Briuglia Silvana , Gabriela Wasniewska Malgorzata

Background: Osteogenesis imperfecta / Ehlers–Danlos (OI/EDS) overlap syndrome is a rare and recently described disorder of connective tissue, characterized by mutation of COL1A1 (17q21.33) or COL1A2 (7q21.3) genes, involved in alpha-1 and alpha-2 chains of type 1 collagen synthesis. Patients with OI/EDS overlap syndrome could show a phenotype characterized by features of both osteogenesis imperfecta (bone fragility, long bone fractures, blue sclerae, sho...

hrp0095p1-152 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

COVID-19 and precocious puberty: Does BMI play a role?

Pepino Carlotta , Fava Daniela , Pepe Alessia , Strati Marina , Paoloni Dalila , Patti Giuseppa , Elsa Maria Allegri Anna , Maghnie Mohamad , Di Iorgi Natascia

Background: Since COVID-19 the number of girls referred to pediatric endocrinologist for suspected precocious puberty (PP) and early puberty (EP) has increased. The aim of the study was to evaluate the incidence, the anthropometric, biochemical and radiological characteristics of PP during the COVID-19 pandemic, compared to previous years.Methods: We retrospectively evaluated medical records of 464 females (F) referred t...

hrp0092rfc2.4 | Bone, Growth Plate and Mineral Metabolism Session 1 | ESPE2019

Bone Mass and Fracture Prevalence in Childhood Brain Cancer Survivors 2, 5 or 7 Years After Off Therapy

Gallizia Annalisa , Mauro Vera , Crocco Marco , Elsa Maria Allegri Anna , Napoli Flavia , Luisa Garrè Maria , Maghnie Mohamad , Di Iorgi Natascia

Background and Aim: Multifaceted risk factors impair bone mass (BM) in childhood brain cancer survivors(CBCS). Aims of the study were to evaluate bone mass and it's determinant and fracture prevalence in CBCS 2(G+2), 5(G+5) or 7(G+7) years after off therapy (OT).Methods: Seventy-three(G+2), 87(G+5) and 66(G+7)CBCS were evaluated at 12,9±4,2, 14,9±4,4 and 16,6±4,4yrs, respectivel...