ESPE Abstracts

Background: Neonatal TSH screening program for congenital hypothyroidism (CH) in Central Serbia was introduced in 1983. Over the past three decades, increasing overall incidence rate of children with both permanent and transient forms of CH has been observed.Objective and hypotheses: The aim of the study was to compare incidence of CH in the first 16 years of screening (period 1) with the last 15 years of screening (period 2). We also investigated the im...

Introduction: Adrenocortical tumors are very rare in children, with a prevalence of just 0.3 cases/million/year. Autonomic hormone production by adrenal cortical tumors may cause peripheral precocious puberty.Case report: A 4-year-old boy was presented by his parents because of pubertal behavior with aggressive features and a significant increase in the size of the penis. The parents also noticed a strong growth spurt and sweat odor. The boy had a good g...

Introduction: Heterozygous inactivating mutations of the calcium-sensing receptor encoding gene (CASR) cause autosomal dominant familial hypocalciuric hypercalcemia (FHH), whereas mutations that inactivate both alleles cause neonatal severe hyperparathyroidism (NSHPT), a rare and potentially fatal disease. We present the clinical and genetic characterization of a Portuguese family with FHH/NSHPT as well as the long-term follow-up of the proband.<p class="a...

Background: Congenital hyperinsulinism of infancy represents a group of heterogeneous disorders characterized by over-secretion of insulin from pancreatic β cells causing severe hypoglycemia. Genetically, congenital hyperinsulinism is caused by defects in key genes regulating insulin secretion (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4A, and non-constantly HNF1A). The aim of our pr...

Background: Chimerism is the phenomenon of two or more genetically distinct cell lines (originating from different zygotes) in the same individual. In situations when the sex of the fertilised eggs is disparate, it can lead to intersex phenotypes.Objective and hypotheses: We report a case of ovotesticular disorder of sexual development with chimerism resulting from a twin pregnancy (not involving assisted reproductive technologies).<p class="abstext"...

Background: Hypospadias is one of the most common congenital anomalies in males. Surgical repairing aims to improve the aesthetic and functional outcome. The success rate of hypospadias repairing is variable according to the severity of the malformation with a complication rate(CR) of almost 60% in proximal forms. Testosterone treatment before surgery is still controversial and its impact on surgical outcomes, and the best regimen for administration, is unclea...