hrp0094p2-346 | Pituitary, neuroendocrinology and puberty | ESPE2021

The clinical and biochemical spectrum of pituitary lesions in children compared to adults: experience from a single tertiary center

Galazzi Elena , Carrara Silvia , Soranna Davide , Zambon Antonella , Maria Fatti Letizia , Moro Mirella , Persani Luca ,

We present a monocentric cross-sectional study of 55 children referred between 2000 and 2020 for pituitary lesions, who underwent a complete pituitary function assessment. These data were compared to results obtained in a group of 295 adults carrying pituitary lesions undergoing a complete pituitary screening. Follow-up data was available for 50 children and 248 adults. The mean age at diagnosis in children was 12.2±3.7 years (range 2.1-17.9), while in adults was 48.7&#17...

hrp0092p1-120 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Role of Priming in Peri-Pubertal Growth Delays: Preliminary Results of A Large Multicenter Study

Galazzi Elena , Improda Nicola , Cerbone Manuela , Soranna Davide , Moro Mirella , Fatti Letizia Maria , Zambon Antonella , Salerno Mariacarolina , Dattani Mehul , Persani Luca

Introduction: Peripubertal children with delayed puberty frequently display a poor growth rate prompting endocrine work-up. Whether priming with sex steroids should routinely be performed in these patients to improve specificity of growth hormone stimulation tests (GHST) is unclear. Treatment with sex steroids in constitutional delay of growth and puberty (CDGP) is also debated.Patients and Methods: This multicenter retr...

hrp0092p3-287 | Late Breaking Abstracts | ESPE2019

Should Wereviewclinical Criteria to Diagnose SHOX Gene Mutations?

Gallo Francesco , Lonero Antonella , Moramarco Fulvio

The mutation of the SHOX gene is a cause of short stature by varying frequency depending on the published work, but estimated at around 3-10 % of cases of short stature. The main diagnostic scheme for starting genetic testing is the Rappold score, which requires clinical and radiological criteria, under which this form of short stature is framed as a disharmonious. In our clinical experience, however, we also looked for mutations in the SHOX gene in patients with signs of ...

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...

hrp0089p3-p135 | Fat, Metabolism and Obesity P3 | ESPE2018

Cut-off for the Follow-up of Obese Children: Cynicism or Realism?

Gallo Francesco , De Quarto Giuditta , Lonero Antonella , Moramarco Fulvio

The majority of treated obese children fail the goals set in the medium-long term or do not show themselves up at the short term follow up. These results, which do not improve even with the proliferation of facilities aimed to the treatment of obesity and of its complications, pose serious questions on how to make the best use of scarce resources available by the National health system. We have visited, between 2013 and 2015, 378 seriously obese children (>2 DS from nation...

hrp0084p3-1232 | Thyroid | ESPE2015

Malabsorption of Levothyroxine in a Child Affected by Short Bowel Syndrome

Paone Laura , Marini Romana , Diamanti Antonella , Cappa Marco

Background: Hypothyroidism is a common problem during childhood generally due to autoimmune thyroid disease. It can also occur in case of severe loss of serum proteins, as well as in the case presented. The most accepted practice in the treatment of hypothyroidism consists in the oral administration of LT4. Many conditions may affect the absorption of LT4.Case presentation: We report an original case of LT4 malabsorption ...

hrp0082p3-d3-786 | Fat Metabolism & Obesity (2) | ESPE2014

Hypothalamic Obesity in Children and Adolescents: a Multi-Disciplinary Approach and Novel Therapeutic Tools

Tessaris Daniele , Tuscano Antonella , Rabbone Ivana , Lezo Antonella , Fenocchio Giorgia , Broglio Fabio , Spinardi Alessandra , Lala Roberto , Matarazzo Patrizia

Background: Hypothalamic obesity (HO), due to midline congenital malformations, genetic diseases or hypothalamo-hypophysis tumours, is severe and difficult to treat. Patients are scarcely compliant to diet and physical activity, for disabilities often affecting them. Drugs have been rarely employed.Objective and hypotheses: Aim of the study was to treat hypopituitaric children and adolescents affected by severe HO with a multidisciplinary approach includ...

hrp0092lb-22 | Late Breaking Posters | ESPE2019

Two Novel Mutations of The LHX3 Gene Associated with a Severe Phenotype Involving Endocrine, Nervous and Skeletal Systems

Guazzarotti Laura , Azzolini Sara , Ulivi Sheila , Fabretto Antonella , Riello Francesca , Ardisia Carmela

LHX3, a member of the LIM-homeodomain transcription factors family, regulates pituitary development in vertebrates and the maintenance of mature anterior pituitary cells. Nineteen mutations in LHX3 gene have been reported in HGMD database, in homozygous and compound heterozygous patients. The phenotype may present with pituitary dysfunction only or with syndromes involving also nervous and skeletal systems. The MRI images include aplasia or hypoplasia of pitui...

hrp0089p1-p238 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Effect of Intrauterine Growth Restriction on Ovarian Follicle Pool

Pampanini Valentina , Germani Daniela , Puglianiello Antonella , Jahnukainen Kirsi , Sahlin Lena , Cianfarani Stefano , Soder Olle

Introduction: A low oxygen and/or nutrient supply to the fetus, resulting in intrauterine growth restriction (IUGR), can affect gonadal development of the offspring and have a potential impact on fertility. Epidemiological studies on subjects born small for gestational age (SGA), as a surrogate measure of IUGR, have reported contradictory results. Data derived from animal models of placental insufficiency are limited.Objective and hypotheses: To investig...

hrp0086fc10.2 | Perinatal Endocrinology | ESPE2016

Liver UPR and Metabolic Consequences in an Animal Model of Intrauterine Growth Retardation (IUGR)

Deodati Annalisa , Argemi JosepMaria , Puglianiello Antonella , Germani Daniela , Ferrero Roberto , Aragon Tomas , Cianfarani Stefano

Background: Endoplasmic reticulum (ER) is the site where proteins are folded in the cell. Metabolic stress alters ER homeostasis and activates the unfolded protein response (UPR), which contributes to the development of insulin resistance and metabolic syndrome.Objective and hypotheses: To longitudinally evaluate liver UPR and its functional consequences in an animal model of IUGR followed from birth to adulthood.Method: On day 19 ...