hrp0086rfc13.1 | Management of Obesity | ESPE2016

Inhibition of Teneurin-2 (TENM2) Leads to Upregulation of UCP1 in Human White Adipocytes

Tews Daniel , Fischer-Posovszky Pamela , Wabitsch Martin

Background: Heat generation in UCP-1 active cells as present in brown adipose tissue contributes to the regulation of energy homeostasis. Brown adipose tissue is known to be present in neonates and infants and has recently also been demonstrated in children and adults. Interestingly, a transition of white adipocytes into a brown phenotype has been documented in vitro in mouse and human cells, yet the underlying mechanisms are still not resolved. Using transcriptome an...

hrp0089p3-p019 | Adrenals and HPA Axis P3 | ESPE2018

Erythrocytosis as First Manifestation of Adrenal Mass

Valenzise Mariella , Cannavo Laura , Zirilli Giuseppina , Iaria Graziella , Lima Mario

Background: Erythrocytosis is characterized by increased number of red blood cells. Primary form is also known as polycythemia vera, while secondary forms can be due to several causes, among which hyperandrogenism. Although the association of severe hyperandrogenism and polyglobulia is known, literature data concerning this comorbidity are overall scanty, and completely lacking in pediatric age.Case report: We report the history of a 14 years-old girl ad...

hrp0082p2-d2-550 | Puberty and Neuroendocrinology (1) | ESPE2014

Final Height in a Boy with McCune–Albright Syndrome and Precocious Puberty Treated with Ketoconazole, Cyproterone Acetate, and Leuprolide Acetate Depot for More than 5 Years

Messina Maria Francesca , Aversa Tommaso , Valenzise Mariella , De Luca Filippo

Background: McCune–Albright syndrome (MAS) is a sporadic and rare disorder, clinically defined by the classic triad of cafè-au-lait skin lesions, polyostotic fibrous dysplasia, and peripheral precocious puberty. Precocious puberty is common in girls, but has been reported in only 15% of affected boys. Clinical trials on therapeutic management of precocious puberty in MAS boys are limited to case reports or small patient cohorts and no data are reported about final he...

hrp0098p2-367 | Late Breaking | ESPE2024

A Novel Case of Lipoatrophy Due to a Non-Pegylated Long-Acting Growth Hormone Somatrogon

Buyukgebiz Atilla , Demir And

Introduction: Recombinant growth hormone (rhGH) treatment has been used for growth hormone (GH) induced short stature since 1985, usually with transient adverse events, while lipoatrophy involves irreversible damage to subcutaneous fatty tissue. Biopsies show mast cells and eosinophils, suggesting destructive inflammation. GH directly increases lipolysis, reduces lipoprotein lipase activity, and decreases mature adipocyte number and volume, inhibiting adipose ...

hrp0092rfc5.1 | Thyroid | ESPE2019

Hurthle Cell Carcinoma in Childhood: Retrospective Analysis of a Large Series

Pepe Giorgia , Valenzise Mariella , Zirilli Giuseppina , Cannavò Laura , Tuli Gerdi , Corrias Andrea , Wasniewska Malgorzata

Background: in general population Hurthle cell cancer (HCC) accounts for 3-7% of all differentiated thyroid cancers (TC) with a more aggressive course, while its relative prevalence and behavior in childhood is uncertain due to the lack of specific literature reviews.Objective: to describe the largest pediatric HCC cohort to date reported and to estimate its relative prevalence among TC variants in childhood.<p c...

hrp0092p2-147 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

A Rare Cause of Pediatric Hypoglycemia in a Boy: A Malignat Insulinoma

Valenzise Mariella , Zirilli Giuseppina , Cannavo' Laura , Passanisi Stefano , Li Pomi Alessandra , Wasniewska Malgorzata

Insulinoma is a rare neuroendocrine tumor, usually benign, but can be life-threatening in causing hypoglycemic accidents. It presents in individuals aged between 8 and 82 years and can occur sporadically or constitute a part of multiple endocrine neoplasia type 1 (MEN-1).The nonspecific-symptoms and small size of these tumors led to difficulties of diagnosis and localization.Here we describe the case of a 11-year-old boy, who came to our attention for a ...

hrp0092p2-186 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Clinical Features in a Patient with Turner Syndrome and Pericentric Inversion of Chromosome 9

Valenzise Mariella , Passanisi Stefano , Pomi Alessandra Li , Zirilli Giuseppina , Messina Maria Francesca , Aversa Tommaso

Turner syndrome (TS) patients are at risk for a constellation of neurocognitive and psychosocial diseases. TS is associated with an increased risk for difficulties with visual–spatial reasoning, visual–spatial memory, attention, executive functioning, motor, and math skills. Additionally, increased rates of social difficulties, anxiety, and depression are observed.Here we report the case of a 16-years-old Caucasian girl who came to our attentio...

hrp0089p1-p136 | Fetal, Neonatal Endocrinology and Metabolism P1 | ESPE2018

Bone Maturation as a Predictive Factor of Catch-up Growth During the First Year of Life in Born Small for Gestational Age Infants: A Prospective Study

Pepe Giorgia , Calafiore Mariarosa , Valenzise Mariella , Morabito Letteria , De Luca Filippo , Wasniewska Malgorzata

Background: About 85–90% of children born small for gestational age (SGA) experience a catch-up growth that occurs mostly during the first year of life and results in a full stature recovery by the age of 2. The remaining 10–15% do not undergo compensatory growth, achieving - if untreated - an adult height approximately 20 cm below their peers.Objective: The aim of this prospective one-center study was to investigate the relation between bone m...

hrp0089p3-p311 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Congenital Hypopituitarism Associated with Complex Cranio-Vertebral Junction Anomalies

Valenzise Mariella , Pitrolo Elda , Biasi Michele , Santucci Simona , Wasniewska Malgorzata , Luca Filippo De

Background: Abnormalities of cervical spine have been described in association with pituitary anomalies in the context of malformative syndromes with midline defects. Several genes are involved in the control of pituitary gland development, differentiation and function. In particular, the presence of os odontoideum has been reported in one case of pituitary hypoplasia, associated with leg anomalies, renal dysplasia and no aberrations of the BMP4, BMP2 and PTX1 genes. In anothe...

hrp0082p1-d2-25 | Autoimmune Endocrine Disease | ESPE2014

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: New Insights into Phenotype and Genotype*

Valenzise Mariella , Aversa Tommaso , Fierabracci Alessandra , Porcelli Paolo , Betterle Corrado , De Luca Filippo

Background: Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal-Distrophy (APECED) is a rare autosomal recessive disease, caused by mutations of AIRE gene on chromosome 21. It is characterized by three main diseases: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (HP) and Addison’s disease (AD).Objective and hypotheses: In this paper we review the clinical phenotypes and the genotypes of pediatric Sicilian population affected b...