ESPE Abstracts

Severe hypercalcemia with total serum calcium concentrations above 15 mg/dL is a serious nonspecific life-threatening emerging disorder. Hypercalcemia usually results in nonspecific classic gastrointestinal and skeletal symptoms as anorexia, nausea, weakness, polyuria, constipation and bone pain. It can be associated with metabolic, nutritional, inflammatory, genetic or malignant disorders, or can be drug-induced. Malignancy related hypercalcemia develops more aggressively and...

Familial hypocalciuric hypercalcemia (FHH) is a genetically heterogeneous condition resembling primary hyperparathyroidism but not curable by surgery. Cinalcelcet may improve symptoms some patients but limited experienced especially in children. A 10 years old child evaluated by uveitis, sacroileitis, spondyloarthritis and diagnosed as HLA-B27 positive juvenile idiopathic arthritis (JIA). Also at the same time he evaluated by high calcium, low phosphate and inappropriately hig...

Introduction: Although vitamin D deficit is the most common cause of rickets there are many rare genetically transmitted forms as hypophosphatemic rickets, a family of hereditary diseases characterized by low phosphorous plasma levels and resistance to 25OH-vitamin D replacement.Case report: This is the case of a 3.6 year-old Italian child sent from the General Pediatrician, for rickets suspicion. Silent personal history...

Background: Disorders of sex development (DSD) are often due to disruption of the genetic programs that regulate gonad development. Some genes have been identified in these developmental pathways such as DAX-1, SOX-9, GATA-4 and others. The GATA-4 gene, located on chromosome 8p23.1, encodes GATA-binding protein 4 (GATA-4), a transcription factor that is essential for cardiac and gonadal development and sexual differentiation. Congenital heart disease (CHD) and...

Background: Diabetic patients frequently develop a constellation of electrolyte disorders. These patients are often potassium-, magnesium- and phosphate-depleted, especially in the context of diabetic ketoacidosis.Patients with type-1 diabetes are predisposed to develop a spectrum of liver diseases, which includes fatty liver, steatohepatitis and cirrhosis. The association of hepatitis A infection with type-1 diabetes is extremely rare.<...

Background: Hyperthyroidism is a condition rarely found in children. In the majority of cases, it is a Grave's disease whose clinical expression is very similar to that observed in adults.Objective: describe the clinical, evolutionary and therapeutic epidemiological features in children with hyperthyroidism and especially Grave's disease.Materials and Methods: This is a ret...

A female child born from non consanguineous parents of Pakistani origin presented with congenital heart anomaly at prenatal ultrasound and confirmed at birth, with type B aortic arch interruption, right-sided aortic arch, wide ventricular and atrium septum defects, which required repeated surgical corrections during the first 9 months of life. The ultrasound also reported absence of the thymus. Suspecting Di Deorge Syndrome, a fluorescent in situ hybridization (FISH) ...

Background: Primary care pediatricians (PCPs) use thyroid function tests (TFT) as screening tests in children and adolescents with various health complaints. Thus, it is crucial to evaluate the results according to appropriate cut-offs individualized to the child characteristics. Such references values, which are missing in the pediatric age group, are needed for proper evaluation of the thyroid functions.Objective and hypotheses: To determine normal TSH...

Background: Vitamin D deficiency can cause rickets and impaired bone growth in infants. In India, randomization to higher vitamin D supplementation doses in pregnancy led to decreased anterior fontanelle and increased head circumference at 0 and 9 months.Objective and hypotheses: To investigate the impact of cord 25-hydroxyvitamin D (25(OH)D) concentrations on cranial measures.Method: In a Danish prospective birth cohort of 2549 mo...

Introduction: We report the first known case of a child with mosaic Turner syndrome (TS) with ring X chromosome abnormality and Kabuki syndrome (KDM6A deletion) presenting with hypoglycaemia secondary to severe GH deficiency. Ring X Turner’s mosaic have the XIST locus, so the chromosome is inactivated, however the KDM6A gene deletion associated with Kabuki syndrome escapes X-inactivation as it is falls below the threshold required to manifest inactivation. This r...