hrp0095p2-43 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Clinical-molecular assistance pathway for primary bone fragility: a pediatric monocentric experience

Tessaris Daniele , Gavello Federica , Bonino Elisa , Tuli Gerdi , Matarazzo Patrizia , Deaglio Silvia , de Sanctis Luisa

Bone fragility is a more typical condition of old age, linked to physiological aging. In pediatric age, on the contrary, it represents a rare problem, but more often has an underlying primary cause. This condition manifests itself in most cases with recurrent or abnormal fractures and bone deformities, with a limitation of mobility, bone pain and consequent reduction in the quality of life of the child. The great difficulty for the clinician consists in reaching a correct diag...

hrp0095p2-288 | Thyroid | ESPE2022

Case Report: the rare case of pediatric myxedema due to an unrecognized chronic autoimmune hypothyroidism

Bonino Elisa , Matarazzo Patrizia , Buganza Raffaele , Tuli Gerdi , Munarin Jessica , Bondone Claudia , de Sanctis Luisa

Hypothyroidism is the most common thyroid disorder in children. It usually presents with nonspecific symptoms, that can be mild and occur slowly over time, compromising a timely diagnosis, with possible effects on pituitary gland, multiple organs and growth. In case of long-standing unrecognized hypothyroidism, myxedema or myxedema coma can occur, rare but severe conditions. This case report describes an adolescent presenting with extensive trunk and neck swelling. After exclu...

hrp0094p2-400 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Peripheral Precocious Puberty in girls affected by McCune-Albright Syndrome: safety and efficacy retrospective study on letrozole treatment

Tessaris Daniele , Gazzin Andrea , Bonino Elisa , Tuli Gerdi , Matarazzo Patrizia , de Sanctis Luisa ,

Introduction: Precocious Peripheral Puberty (PPP) due to autonomous ovarian activation is the most frequent endocrinopathy in girls with McCune-Albright Syndrome (MAS). Main goals of treatment for PPP are to reduce signs of estrogen exposure, also improving final height, and mitigate secondary psychological influence of sexual hormones exposure. This retrospective study analyzes the long-term safety and efficacy of letrozole treatment in a cohort of girls with...

hrp0089p1-p189 | Multisystem Endocrine Disorders P1 | ESPE2018

Clinical Features and Assessment of the Pathway-Care Proposed by ISPED-Gsa Study Group in an Pediatric Italian Cohort with Pseudohypoparathyroidism

Tessaris Daniele , Bonino Elisa , Matarazzo Patrizia , Tuli Gerdi , Wasniewska Malgorzata , Loche Sandro , Weber Giovanna , de Sanctis Luisa

Background and objective: Pseudohypoparathyroidism (PHP) refers to a heterogeneous group of rare endocrine disorders caused by genetic or epigenetic abnormalities affecting the GNAS locus. It is mainly characterized by resistance to PTH and TSH and a complete or partial Albright Hereditary Osteodistrophy (AHO) phenotype. Few data so far exist on LH/FSH, calcitonin and glucose-lipid metabolism involvement, as well as on neurocognitive aspects. The aim of this multicentre study ...