ESPE Abstracts

Background: Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare autoimmune disease characterized by chronic mucocutaneous candidiasis, hypoparathyroidism and primary adrenal insufficiency. Minor components of the disease are diverse among patients, even within the same family. APS-1 is autosomal recessively inherited and caused by biallelic mutations in the autoimmune regulator (AIRE) gene.Objective and Hypotheses...

Introduction: Congenital disorder of glycosylation type-1a is a multi-system disease involving neurological, gastrointestinal, ophthalmologic, cardiac or endocrine systems. In addition to hypothyroidism and hypergonadotropic hypogonadism, rare occurrences of hyperinsulinemic hypoglycemia in CDG patients have been reported. In the present report, we describe a patient diagnosed with CDG type-1a accompanied by hyperinsulinemic hypoglycemia, and whose responsive to diazoxide....

Background: Bisphosphonate treatment for bone fragility has expanded beyond the children with osteogenesis imperfecta (OI) to those with other causes of low bone mass. Pamidronate is effective such as Paget’s disease, hypercalcaemia of malignancy, osteolytic bone metastasis, steroid-induced osteoporosis and idiopathic osteoporosis.Objective and hypotheses: The experience with bisphosphonates treatment other than OI in children is limited although th...

Background: There are two main problems that should be solved when encountering adrenal incidentaloma. The first of these is to decide whether the adrenal mass is benign or malignant and the second is to determine whether the mass is hormonally active or not.Objective and hypotheses: We aimed to focus on the approach to adrenal masses in childhood.Method: A case of phaeochromocytoma, which was diagnosed as incidentaloma is presente...

Background: Premature adrenarche is defined as the development of axillary and/or pubic hair in association of the DHEA-S concentrations >108.4 nmol/l (40 μg/dl) before the age of eight in girls.Objective and hypotheses: This retrospective study aimed to investigate the clinical presentation, metabolic status, growth velocity and pubertal timing of girls with premature adrenarche.Method: Medical records of 117 patients wer...

The use of recombinant adeno-associated viruses (rAAV) as safe vectors have allowed hundreds of gene therapy attempts to treat monogenic diseases not including bone genetic diseases (Gao G, Nat Rev Drug Dis 2019). To our knowledge, there has been few attempts to apply gene therapy to monogenic bone diseases, largely because most skeletal malformations are being developed during fetal life. Patients affected with acrodysostosis are known to aggravate their skeletal malformation...

Introduction: Ellis Van Creveld syndrome (EVC) is a rare condition which is characterized with disproportionate short stature, postaxial polydactyly, and dysplastic nails and teeth. It is a rare autosomal recessive disorder due to mutations of EVC 1 and 2 genes located on chromosome 4p16. EVC syndrome is a chondroectodermal dysplasia. Congenital heart defects; especially atrial septal defect and single atrium occurs in 60% of affected individuals. Here we report a 5 year-old f...

Background: Papillary thyroid cancer (PTC) is the most common endocrine malignancy in children. PTC shows more aggressive progress in children than in adults in respect to local and distant metastases. Here we presented a PTC case with primary pulmonary symptoms and pulmonary metastasis.Case: A 15.5-year-old male patient presented to the clinics with cyanosis and respiratory difficulty for the last 2 years. He had dyspnea, central cyanosis, clubbing, and...

Background: Screen (TV, tablet, smartphones, internet, video games, PC etc.) addiction is a growing problem in child health. The effect on insulin-glucose metabolism is not well known yet.Objective and hypotheses: To investigate the insulin resistance in screen addicted children.Method: We studied 108 children and adolescents aged 13.72±1.95 years (range 11–17 years). Participants were divided into three groups according ...

Background: Both genetic and environmental factors serve as the trigger of Hashimoto's thyroiditis (HT), but the exact mechanisms are still not fully understood. Increased intestinal permeability was shown to be a constant and early feature of several autoimmune disorders. Although HT is the most common autoimmune disorder worldwide, the role of intestinal permeability in its pathogenesis had received little attention. Human zonulin modulates intracellular...