ESPE Abstracts

Background: Rickets is a disease due to a reduced mineralization of the rapidly growing bones (skull, ribs, wrists, knees, ankles) with consequent accumulation of non-mineralized bone matrix, called osteoid tissue. The most frequent cause of rickets is vitamin D and/or calcium deficiency caused by reduced sun exposure, inadequate dietary intake or malabsorption (nutritional rickets).Clinical history: R., a 1 year and 6 m...

Background: Pediatric osteoporosis is a condition which can stem from genetic causes (Primary osteoporosis), from systemic diseases or from the chronic use of drugs that alter bone metabolism (secondary osteoporosis). Obesity affects bone health in several ways, including bone remodeling, proinflammatory cytokine production and bone marrow microenvironment alteration. We describe the case of a boy who presented spontaneous vertebral fractures.<p class="abs...

Introduction: I. was born at term by emergency caesarean delivery due to foetal distress, by unrelated parents. Birth weight: 2160 g (-3.18 SD), length 41.5 cm (-4.47 SD), head circumference 35.4 cm (0.57 SD). He was admitted in the neonatal intensive care unit (NICU) for the severe growth retardation associated to dysmorphic features. Neonatal screening, echocardiography and brain ultrasound normal. Karyotype: 46,XY.Case present...

Case report: We describe a 4-year-old girl, born by vaginal delivery after 41 weeks gestational (length: 55 cm, 99thcentile, weight: 4.8 kg, 99th centile). TSH on newborn screen was normal. Evaluated in the first month of life by gastroenterologists for severe constipation required several hospitalizations and investigation by endoscopy, biopsy, and rectal manometry. Constipation was treated by continuous polyethylene glycol administratio...

Background and aim: Subjects with Turner Syndrome (TS) show low cortical bone mineral density (BMD), osteoporosis and risk of fractures. Previously, we demonstrated the enhanced spontaneous osteoclastogenesis in girls and young women with TS before and after pubertal induction with hormonal replacement therapy (HRT). The bone resorption observed in girls before puberty induction seems to be supported by the high FSH serum levels observed at prepubertal stage, while in young wo...

Introduction: The short stature homeobox-containing gene, SHOX, encodes a homeodomain transcription factor responsible for a significant proportion of long-bone growth. Growth impairment is a common manifestation in SHOX deficient patients (SHOXD), with variable degrees of height disablement. The growth promoter treatment of SHOXD patients consists in the administration of recombinant human GH (rhGH). In Italy, the allowed formulation of rhGH (somatropine, Hum...

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED, OMIM240300) is a rare monogenic disease due to biallelic mutations in the Autoimmune Regulator (AIRE) gene. This encodes for a thymus-enriched transcription factor responsible for central immune tolerance. Classic diagnostic criteria are the presence of two of main symptoms of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HP) and Addison’s disease (AD). Non-endocrine autoimmun...

Background: Thyroid hormones (TH) play multiple effects on glucose metabolism. Some recent studies carried out in adult patients suggested an association between altered sensitivity to TH and type 2 diabetes, obesity, and metabolic syndrome. No studies are currently available on the presence of altered sensitivity to the action of TH in youths with prediabetes.Objective: To evaluate the relationship between sensitivity t...

Hypercalcemia and nephrocalcinosis (NC) are rare findings associated with congenital adrenal hyperplasia (CAH), whose pathogenetic mechanisms are still unclear. In this study we aimed to investigate the prevalence of NC in a cohort of Italian children affected with classical form of CAH, and to correlate its association with metabolic control of the disease.Subjects and Methods: This is a multicenter one year-perspective study involving ...

Objectives: 1. To describe the clinical, biochemical and testicular ultrasonographic features in a population of males with congenital adrenal hyperplasia (CAH) and Testicular Adrenal Rest Tumor (TART). 2. To identify factors related to the onset of TART. 3. To evaluate the therapeutic management and outcome of TART.Methods: Males with classic and non-classic 21β-hydroxylase-deficient CAH, diagnosed with TART, follo...