ESPE Abstracts

Background: Severe Ovarian Dysgenesis (OD), a rare heterogeneous XX disorder of Sex Development (XX-DSD) presents clinically with primary amenorrhea, hypergonadotrophic hypogonadism and infertility. The genetic basis of OD remains unknown in about 70% of cases. To identify novel causes of OD, we study patients in which known genes have been excluded.Methods: Whole-exome-sequencing was performed on DNA extracted from peri...

Background: Severe Ovarian Dysgenesis (OD), a rare heterogeneous XX disorder of Sex Development presents clinically with primary amenorrhea, hypergonadotrophic hypogonadism and infertility. The genetic basis of OD remains unknown in 70% of cases. To identify novel causes of OD, we study patients in which known genes have been excluded.Methods: Whole-exome-sequencing was performed in a 14.5y old Ashkenazi Jewish, non-cons...

Background: Pseudohypoaldosteronism (PHPA1) is a disorder of impaired renal electrolytes re-absorption and excretion. Primary PHPA1 has two clinically and genetically distinct forms: (i) Renal autosomal dominant form, which involves a mutation in the mineralocorticoid receptor; (ii) Systemic autosomal recessive form, which involves a mutation in the epithelial sodium channel. PHPA1 can be also transient secondary to urinary tract infections (UTI)/malformations.<p class="ab...

Background: Recent studies showed that Rotavirus vaccination may affect the prevalence of type 1 diabetes (T1D). Our aim is to determine the prevalence of early childhood (<5 years) T1D before and during the introduction of Rotavirus vaccination in Israel by syndromic surveillance.Methods: Data on insulin purchases reported by Israel’s four health care organizations (HMOs) was retrieved from the National Program...

Background: Genomic imprinting is the process by which preferential methylation of one parental allele results in parent of origin specific expression of particular genes. Methylation is established during gametogenesis and is maintained throughout development. Alterations in any of the processes in the establishment and maintenance of methylation can lead to aberrant imprinting, which can result in either reactivation of the original silent allele or the sile...

Shox gene deficiency which causes short stature is a known indication for treatment with growth hormone. The prevalence of shox deficiency among children with idiopathic short stature has a high variability in different studies and ranges between 1.5-17%. We aimed to determine the incidence of SHOX haploinsufficiency in our region and to assess the genotype-phenotype relation which may help with setting criteria in the decision to which patients should we offer this genetic te...

Introduction: Diabetic ketoacidosis (DKA) is the most common cause of hospitalization, cerebral edema, and death among children with type 1 diabetes (T1D). Fatty acid-binding protein 4 (FABP4 or aP2) is one of the most abundant proteins in adipocytes and has been shown to be actively secreted from adipocytes. Circulating FABP4 is regulated by fasting- and lipolysis-related signals and contributes to hyperglycemia by promoting hepatic gluconeogenesis and interf...

Background: Congenital hypothyroidism is a common condition with reported incidence between 1/2000 – 1/4000 live births. In approximately 85% of cases this is sporadic due to a structural abnormality of the thyroid gland. Approximately 15% of cases are hereditary and secondary to thyroid dyshormonogenesis. Most of these are due to mutations in one of the genes involved in iodine transport or organification, mutations in the thyroglobulin gene or d...

Background: Growth hormone (GH) is a diabetogenic hormone.Objective: To determine the long term risk for diabetes in a cohort of children treated with recombinant human (rhGH) in Israel, using data from the Israeli National Diabetes Register (INDR) for 2014 as a reference.Methods and patients: Between the years 1988 and 2009, 2,513 children under the age of 19 were approved for GH treatment. The patients were categorized to a low-r...

Background: Pseudohypoparathyroidism (PHP) encompasses a group of rare disorders defined by target organ unresponsiveness to parathyroid hormone (PTH). Patients with PHP type 1A carry heterozygous mutations of the maternal GNAS gene that encodes the α-subunit of the G protein. This protein is coupled to the PTH receptor as well as to other heptahelical receptors - TSH, GHRH and gonadotropins receptors.Objective and hypotheses: To describe a...