hrp0092p1-79 | GH and IGFs | ESPE2019

The experience of Pain in Children with Growth Hormone Deficiency and Psychosocial Correlates: Preliminary Data from a Longitudinal Prospective Study

Bettini Alessandra , Teodori Caterina , Maffei Francesca , Ciofi Daniele , Stagi Stefano

Background: Pain represents one of the most stressful experiences for children undergoing medical therapies (Kortesluoma, 2008), but is under represented in literature for what concerns pediatric endocrinology. Children consider Injections one of the most painful, frighteningand distressing procedures (Fassler, 1985). The treatment for patients with Growth Hormone Deficiency requires daily subcutaneous injection, performed by parents or patients themselves. Th...

hrp0092p3-43 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

About a Case of Neonatal Hypocalcemia

Belli Gilda , Cecconi Antonella , Romano Silvia , Ciofi Daniele , Stagi Stefano

Background: Neonatal hypocalcemia is a common disorder, occurring more often in premature, low birth weight and asphyxiated infants, as in infants born to mothers with diabetes. Nevertheless its aetiology is heterogeneous ranging from iatrogenic, idiopathic and inherited metabolic abnormalities. Among these, Autosomal Dominant Hypocalcemia (ADH) is a rare syndrome characterized by the presence of inappropriately low concentration of circulating parathyroid hor...

hrp0086p1-p807 | Syndromes: Mechanisms and Management P1 | ESPE2016

Auxological Features in Patients with Juvenile Idiopathic Arthritis Treated with Biologic Therapy Preliminary Study Data

Marino Achille , Cimaz Rolando , Giani Teresa , Simonini Gabriele , Stagi Stefano

Background: Juvenile idiopathic arthritis (JIA) is a heterogeneous group of diseases associated with an increase of inflammatory cytokines that may to influence child growth. However this is already known, to date auxological data published of JIA patients during biologic treatment are incomplete and very heterogeneous.Objective and hypotheses: To evaluate the auxological features in a selected cohort of patients with JIA treated with biologic drugs....

hrp0092p1-107 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Secular Trend of Age at Menarche and Stature in Tuscan Girls: A Retrospective Study in The Birth Cohort 1995-2003

Ferrari Vittorio , De Masi Salvatore , Ricci Franco , Ciofi Daniele , Stagi Stefano

Introduction: Developed countries have shown, among the 20th century, a time trend towards a younger age at menarche. Tanner described an anticipation of 3 months every decade. In the last two decades of twenty century we have observed an apparent stabilization of menarche age in most of Western countries.Objective: analyze average age of menarche in Tuscany girls and compare our results with those in literatu...

hrp0092p2-21 | Adrenals and HPA Axis | ESPE2019

Fludrocortisone Treatment in a Child with Postural Orthostatic Tachycardia Syndrome (POTS): A Case Report

Varriale Gaia , Greco Marco , De Simone Luciano , Pozzessere Anna , Stagi Stefano

Background: Postural orthostatic tachycardia syndrome (POTS) is a multifactorial condition, which implies symptoms as fatigue, tachycardia, sleep disorders and autonomic symptoms. The fundamental clinical sign is the manifestation of an abnormal increase in heart rates of at least 40 bpm within 10 minutes assuming an upright position, delineating a condition of orthostatic intolerance and decreasing quality of life.Objective</str...

hrp0086rfc12.3 | Neuroendocrinology | ESPE2016

Next Generation Sequencing and Precocious Puberty: A New Diagnostic Challenge to Identify the Molecular Basis of Complex Diseases

La Barbera Andrea , Provenzano Aldesia , Artuso Rosangela , Orlandini Valerio , Giglio Sabrina , Stagi Stefano

Background: Precocious puberty is defined as the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. This condition results from a constant and complex interplay between predisposing genes and environmental factors. To date, the molecular analysis are all focused on reproductive-endocrine disorders such as Kallmann syndrome and hypogonadotropic hypogonadism, while the genetic bases of pubertal timing are still unclear.<p ...

hrp0086p2-p84 | Adrenal P2 | ESPE2016

Hyperreninemic Hypoaldosteronism: Clinical and Genetic Features in Pediatric Patients

Capirchio Laura , Seminara Salvatore , Scalini Perla , de Martino Maurizio , Stagi Stefano

Background: Isolated hyperreninemic hypoaldosteronism due to aldosterone synthase deficiency is a rare autosomal recessive disorder linked to aldosterone biosynthesis defect (involving CYP11B2 gene). Its clinical presentation varies with age: during the first weeks of life it usually presents with salt-wasting syndrome (with severe hyponatremia, hyperkalemia, metabolic acidosis, vomiting, signs of dehydration) while in children it is usually characterized by failure to thrive,...

hrp0086p2-p149 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Bone Status in a Patient with IGF-I Receptor Deletion Syndrome: Bone Quality and Structure Evaluation Using DXA, pQCT, and QUS

Stagi Stefano , Pelosi Paola , Scalini Perla , Cavalli Loredana , Pantaleo Marilena , Lapi Elisabetta , Martino Maurizio de

Background: Various aspects of IGF1R defects have been analysed to date, but the effects of IGF1R haploinsufficiency bone status and metabolism were rarely investigated.Objective and hypotheses: To study bone metabolism and structure in a case of Insulin-like growth factor-I (IGF-I) receptor (IGF1R) gene deletion.Method: Genetic analysis, GH stimulation, rhGH treatme...

hrp0086p2-p396 | Gonads &amp; DSD P2 | ESPE2016

Hypogonadotropic Hypogonadism in a Girl with 2p11.2–2q12.1 Duplication

Bianconi Martina , Scalini Perla , Maccora Ilaria , de Martino Maurizio , Megna Paolo , Stagi Stefano

Background: Patients with chromosome 2 pericentromeric duplication are rarely reported in literature.Objective and hypotheses: To describe a young girl with a congenital malformations syndrome, hypogonadotropic hypogonadism and impaired bone quality associated with a chromosome 2 pericentromeric duplication.Results: The proposita was born at 37th weeks of gestation from a twin pregnancy with a cesarean delivery presenting low birth...

hrp0086p2-p406 | Gonads &amp; DSD P2 | ESPE2016

The Experience of GAIA (Abuse Childhood and Adolescence Group) – AOU Meyer

Losi Stefania , Anzilotti Giulia , Scalini Perla , De Martino Maurizio , Stagi Stefano

Background: GAIA is a health service of Meyer Children Hospital composed of a multidisciplinary team specialized in the management of children victims of child abuse. Sexual abuse occurs when a child is engaged in sexual activities that cannot comprehend, for which the child is developmentally unprepared and cannot give consent, and/or that violate the law or social taboos of society. The sexual activities may include all forms of oral-genital, genital, or anal contact by or t...