ESPE Abstracts

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...

Background: 25-Hydroxyvitamin D (25(OH)D) deficiency is reported to be common in patients with rheumatoid arthritis and associated with disease activity, physical disability, and cardiometabolic intermediates; data in patients with juvenile idiopathic arthritis (JIA) are inconsistent.Objective and hypotheses: To assess serum 25(OH)D in children, adolescents, and young adults with JIA, and to identify the risk factors for vitamin D deficiency in JIA patie...

Background: Hypothyroidism may be also a rare cause of acquired hypoceruloplasminemia. It has recently been underlined a role for thyroid hormone in the normal developmental regulation of ceruloplasmin (cp).Case presentation: A 3-year-old Caucasian girl was admitted to our clinic for recurrent pericarditis, fatigue and muscle weakness. Her family history was remarkable for Hashimoto’s thyroiditis and Graves disease. Her recent personal history was s...

Background: Despite the multiple endocrine, cardiovascular, and gastroenterologic problems of patients with Williams-Beuren Syndrome (WBS), Studies considering metabolism and bone quality in WBS are almost entirely absent from the literature.Objective and hypotheses: We evaluate bone mineral status and metabolism in a cohort of patients with WBS.Method: Thirty-one children (15 females, 16 male...

Background: Cantù syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Other findings described are vascular abnormalities, pulmonary hypertension, generalized edema, mild learning disability and behavioral problems. Cantù syndrome is related to an heterozygous pathogenic variant in ABCC9 or KCNJ8, which can be inherited in an autosominal dominant manner or d...

Background: Vernal keratoconjunctivitis (VKC) patients have an elevated incidence of growth hormone deficiency and thyroid diseases. Nevertheless, no auxological data are available in these subjects.Objective and hypotheses: The purpose of this study was to evaluate the auxological features in a cohort of patients with VKC.Method: This study included 179 Caucasian VKC patients (119 males, 60 females; mean age 9.63±2.98 years) ...

Background: The periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome, is an autoinflammatory disease characterised by regularly recurrent fever episodes, due to seemingly unprovoked inflammation.Objective and hypotheses: The aim of the study was to assess serum 25-hydroxy cholecalciferol (25(OH)D) concentrations in children with PFAPA and to evaluate longitudinally the effect of wintertime supplementation on 25(OH)D st...

Background: Down syndrome (DS) is the most common genetic (chromosomal) mental retardation syndrome. In these patients, several environmental and hormonal factors contribute to low bone mineral density (BMD), among these factors, vitamin D may play a significant role in the health of patients with DS. However, poor studies have evaluated 25-hydroxy cholecalciferol (25(OH)D) levels in DS.Objective and hypotheses: The purpose of this study was to assess se...