hrp0092p3-144 | GH and IGFs | ESPE2019

A Case of Paediatric GH-secreting Pituitary Adenoma Apoplexy

Partenope Cristina , Gallo Dario , Pitea Marco , Pajno Roberta , Weber Giovanna , Barera Graziano , Cinzia Pozzobon Gabriella

Background: Paediatric pituitary adenomas comprise rare but challenging pathologies in children and adolescents related to their endocrine and neurological characteristics.Objective and Hypotheses: We aimed to describe a case report of growth hormone (GH)-secreting pituitary adenoma apoplexy.Method: a 11-year-old girl presented with fever, sudden headache with vomiting. She abruptl...

hrp0092p3-205 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Childhood Craniopharyngioma: A Single Centre Experience

Gallo Dario , Partenope Cristina , Pajno Roberta , Pitea Marco , Weber Giovanna , Barera Graziano , Pozzobon Gabriella Cinzia

Backround: Craniopharingiomas are rare embryogenic malformations of the sellar and parasellar region with slow growth and high local recurrence rate. Due to their unfavorauble location, presurgical hypothalamic involvement and treatment-related hypothalamic damage is frequent and lead to hypothalamic syndrome.Objective: we compare weigh gain and growth pattern regarding to hypothalamic involvement of pediatric patients a...

hrp0089p2-p045 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

An Unusual Case of Hypophosphatemia in a Child Affected by Di George Syndrome

Kalapurackal Mila Ann , Barzaghi Federica , Pitea Marco , Cassano Gilda , Weber Giovanna

A female child born from non consanguineous parents of Pakistani origin presented with congenital heart anomaly at prenatal ultrasound and confirmed at birth, with type B aortic arch interruption, right-sided aortic arch, wide ventricular and atrium septum defects, which required repeated surgical corrections during the first 9 months of life. The ultrasound also reported absence of the thymus. Suspecting Di Deorge Syndrome, a fluorescent in situ hybridization (FISH) ...

hrp0095p1-31 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Osteogenesis imperfecta: the effectiveness of bisphosphonates

Lanzafame Ruggero , Weber Giovanna , Mora Stefano , Pitea Marco , Sala Elisa , Barera Graziano

Osteogenesis imperfecta (OI) is a rare genetic disease characterized by bone fragility and an increased risk of fractures. Intravenous bisphosphonates are the current gold standard for the treatment of OI: the aim of this therapy is an increase in Bone Mass Density (BMD) and a consequent reduction in pathological fracture rates. Currently, the only bisphosphonate approved in Italy for pediatric population is neridronate, infused in hospital once every four months. In San Raffa...

hrp0092p2-298 | Thyroid | ESPE2019

Neonatal Hyperthyroidism: Our Centre's Experience

Vigone Maria Cristina , Vincenzi Gaia , Caiulo Silvana , Di Frenna Marianna , Saracco Luca , Cecchetti Valeria , Mosca Fabio , Barera Graziano , Weber Giovanna

Objective: Neonatal hyperthyroidism is a severe but generally transient condition with a 2% prevalence in offspring of mothers affected by Graves' disease. It is caused by the transplacental passage of maternal anti-thyrotropin receptor stimulant antibodies (TRABs). Here we report the cases diagnosed at our centre between 2015-2019 in order to re-evaluate the diagnostic and therapeutic approach to this challenging neonatal thyroid alteration.<p cla...

hrp0089p2-p262 | Growth &amp; Syndromes P2 | ESPE2018

Identification of a Novel Heterozygous ACAN Mutation in a Patient with Non-Syndromic Short Stature

Partenope Cristina , Gallo Dario , Damia Chiara Maria , Adavastro Marta , Fioretti Lorenzo , Pitea Marco , Weber Giovanna , Pozzobon Gabriella

Aggrecan, encoded by ACAN, is a major proteoglycan component in the extracellular matrix of the growth plate. At least 25 pathological ACAN mutations have been identified in patients with highly variable phenotypes of syndromic or non-syndromic short stature. A 6-year-old boy was referred to our Centre for short stature (height 103.60 cm, −3.14 SDS) in familial short stature. Mid-Parental target height was 161.15 cm (−2.38 SDS); His father (height 167.3 cm) is from...

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 ...

hrp0089p2-p323 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Growth Hormone Deficiency (GHD) in a Patient with Persistence of the Craniopharyngeal Canal with Cephalocele

Caiulo Silvana , Pitea Marco , Partenope Cristina , Gallo Dario , Damia Chiara , Adavastro Marta , Fioretti Lorenzo , Barera Graziano , Weber Giovanna , Pozzobon Gabriella

The patient was referred to our Centre for short stature. Weight and length at birth were within normal limits. In the neonatal period he showed jaundice and hypoglycemia. A reduced growth velocity was reported from the age of six months. At 15 months his length was 70 cm (−3.75 SDS), his weight 8.1 kg (−2.26 SDS). Parental target height was 167.6 cm (−1.38 SDS). He had normal psychomotor development. The examination showed macrocrania and nasal voice. Blood ...

hrp0089p3-p293 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Two Identical Twins … But not in Everything. A Difficult Diagnosis

Damia Chiara Maria , Gallo Dario , Partenope Cristina , Pitea Marco , Fioretti Lorenzo , Adavastro Marta , Pajno Roberta , Weber Giovanna , Barera Graziano

GR and GT are diamniotic monochorial preterm twins (32 GA), both AGA (GR: W -1 SDS, L -1.5 SDS; GT: W and L 0 SDS), with normal karyotype and array-CGH on amniotic fluid, with no major complications associated to prematurity. At birth GT presented bilaterally cryptorchidism associated with micropenis, GR presented normal male genitalia. In the first year of life a severe growth deceleration in length (from -3SDS to -5 SDS) was observed, mainly after six months of life in both ...

hrp0089p1-p251 | Thyroid P1 | ESPE2018

Congenital Hypothyroidism (CH) with Delayed TSH Elevation: The Importance of The Second-Screening Strategy and the Evolution of CH in Preterm Infants

Caiulo Silvana , Vigone Maria Cristina , Olivieri Antonella , Frenna Marianna di , Vincenzi Gaia , Barera Graziano , Corbetta Carlo , Weber Giovanna

Objectives: Preterm infants often present CH characterized by delayed TSH elevation. We describe the clinical and biochemical features and the evolution of CH in preterm infants with delayed TSH elevation, detected by the second screening for CH.Material and Methods: All preterm infants born between 2007 and 2014 negative to the first screening (b-TSH<10 mcU/ml) at 2–5 days of life and positive to the second screening at 12–33 days (b-TSH&#...