ESPE Abstracts

Background: Fanconi anemia (FA) is a rare, genetically and phenotypically heterogeneous, autosomal or x-linked recessive chromosome instability disorder characterized by multiple congenital anomalies, bone marrow failure, and increased susceptibility to specific malignancies. Other findings, including short stature, skin pigmentation, and endocrine abnormalities have been recognized, most notably GH deficiency (GHD), hypothyroidism, and hypogonadism.Case...

Thyroid nodules are rare in pediatric age with an incidence of 1.8–3%. However, the risk of thyroid cancer is much higher in the pediatric population compared with adults. Among the pediatric cancer survivors there is an increased risk of developing a secondary malignancy and the thyroid cancers account for about 10% of these secondary tumors. From 2004 to 2017, we have recruited 43 patients (22 females; 21 males) with thyroid nodules among a population who had presented ...

Introduction: Cardiovascular disease (CVD) is the major cause of morbidity and mortality in type 1 diabetes (T1D). Recent studies implicated deregulated phosphate homeostasis in the etiology of CVD. The objective of this study is to address the relationship between the phosphate-regulating hormone fibroblast growth factor 23 (FGF23) and cardiovascular risk factors in adults with and without type 1 diabetes (T1D).Methods:...

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,...

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...

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...

Background: Non-alcoholic fatty liver disease (NAFLD) represents a spectrum of clinicopathological conditions frequently discovered in obese patients and characterized by multifactorial pathogenesis. Hypoadiponectinaemia and higher interleukin (IL)-6 levels has been related to NAFLD, even if some contradictory findings have emphasized our incomplete understanding of the role of the cytokines in NAFLD.Objective and hypotheses: To investigate the relations...

Background: 3-M syndrome is an autosomal recessive primordial growth disorder characterized by severe prenatal and postnatal growth retardation, normal mental development, unusual facial features and skeletal abnormalities. Mutations in the CUL7, OBSL1 and CCDC8 genes are responsible for this syndrome. In literature a modest response to GH treatment in 3M children is reported without a significant improvement in the final height, suggesting a picture...

Background: Gonadal dysgenesis may be rarely associated with precocious puberty (PP) and development of gonadoblastoma. In these patients cases of peripheral PP have been reported. On the contrary, a central PP has been very rarely described.Objective and hypotheses: To describe a female with central PP associated with a bilateral gonadoblastoma.Results: A 8 year and 5 month old phenotypically female child, presenting suspected PP ...

Background: Empty sella refers to the radiographic appearance of an enlarged or deformed sella turcica and it is considered a rare occurrence in childhood. Many reports have suggested that it is associated with hypothalamic-pituitary dysfunction, with a high prevalence of growth hormone deficiency, as well as multiple pituitary hormone deficiency, idiopathic delayed puberty and isolated diabetes insipidus.Objective and hypotheses: We describe the case of...