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...

hrp0094p1-160 | Fetal Endocrinology and Multisystem Disorders B | ESPE2021

Congenital Central Hypothyroidism (CeH) due to a new variant in IGSF1 gene: clinical case of 2 siblings

Abbate Marco , Vincenzi Gaia , Stancampiano Marianna , Cangiano Biagio , Bonomi Marco , Barera Graziano , Vigone Maria Cristina ,

Congenital Central Hypothyroidism (CeH) is a rare and heterogenous disease that can be part of a combined pituitary hormone deficit (CPHD) condition. The immunoglobulin superfamily member 1 (IGSF1) is the gene more frequently involved in these inherited forms and responsible for the so called X-linked IGSF1 deficiency syndrome, characterized by an estimated incidence of 1: 100.000. The main features are CeH, delayed/disharmonic pubertal development, macroorchidism, va...

hrp0094p2-477 | Thyroid | ESPE2021

L-T4 absorption test in 14-year-old patient with severe refractory hypothyroidism after total thyroidectomy

Vincenzi Gaia , Di Stefano Marina , Abbate Marco , Tarantola Giulia , Barera Graziano , Vigone Maria Cristina

Hypothyroid patients post-thyroidectomy require 1.6-1.8 mg/kg/die of Levothyroxine (L-T4). A persistent TSH level above the upper limit despite a daily dose >1.9 mg/kg/die is defined as “refractory” hypothyroidism in adults. Malabsorption and “pseudo-malabsorption” need to be investigated in case of therapeutic failure. L-T4 absorption test (LT4AT) is useful in distinguishing these two conditions but it has only been described in adult age. We ...

hrp0095p1-28 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Pain as an onset symptom in hereditary hypophosphatemic rickets with hypercalciuria, a case report.

Sala Elisa , Pitea Marco , Lanzafame Ruggero , Mora Stefano , Vezzoli Giuseppe , Barera Graziano

We report a case of hereditary hypophosphatemic rickets with hypercalciuria (Hereditary Hypophosphatemic Rickets with Hypercalciuria, HHRH) in a 13-year-old boy, referred for evaluation due to the onset of bilateral knee pain for about two years. Pain was intermittent and walking limiting and negatively affected quality of life. Negative family history of bone/joint pathologies and kidney stones. The parents are consanguineous (first cousins), have normal stature and no histor...

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...

hrp0095p2-39 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

An anomalous gait

Lanzafame Ruggero , Pitea Marco , Sala Elisa , Del Barba Paolo , Pia Guarneri Maria , Balzano Emanuela , Barera Graziano

A 5-year-old Moroccan patient comes to our attention due to impaired gait with pain in the lower limbs, easy fatigue and poor gain in weight and stature. In the previous months he had some episodes of abdominal pain. During our first physical examination he was pale, with diffuse muscular hypotrophy, uncertain gait with an enlarged base, dubious hypertrophy of the calves and Gowers' sign. No varus / valgus of the lower limbs. Symmetrical and normo-evocable osteotendinous ...

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-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 ...