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...

Background: Contiguous gene syndromes are disorders caused by deletions of genes that are adjacent to one another. It is caused by partial deletion of Xp21, which includes the genes responsible for glycerol kinase deficiency, congenital adrenal hypoplasia, Duchenne muscular dystrophy (DMD) and intellectual disability. We report the case of a 14-day-old patient with this rare disease.Case report: A 14-day-old newborn was referred to our clinic for scrotal...

Autosomal dominant DICER1 mutations are among the causes of early-onset familial cancer. DICER1 mutation has been shown in pleuropulmonary blastomas as well as ovarian tumors, thyroid, parathyroid, pituitary, adrenocortical and testicular tumors. It is important to be aware of the risk for the development of other cancers in the follow-up of these cases.Cases: Case-1: Previously known to be healthy 8,5-year-old girl presented with compla...

Introduction: Skeletal dysplasia is a heterogeneous group of disease, leading to abnormal enchondral ossification and typing of the disease is quite complex. C-type natriuretic peptide (CNP), one of the members of the natriuretic peptide family, has been implicated to play a role in bone development. CNP levels were high in some types of the skeletal dysplasia.Objective: The aim of this study is to evaluate the possibility of using CNP, as a marker for s...

Type 1 Diabetes (T1DM) is a chronic metabolic disease characterized by hyperglycemia due to absolute insulin deficiency as a result of autoimmune damage of pancreatic β cells. In its treatment, insulin, medical nutrition therapy and exercise is recommended. Although it is known that exercise contributes to disease control, the mechanism of these effects has not been fully clarified. It is thought that myokines such as irisin and sestrin, can be effective by secreting with...