hrp0092p1-248 | Multisystem Endocrine Disorders | ESPE2019

A Novel AIRE Gene Mutation in Two Siblings Revealing Different Phenotypes of Autoimmune Polyendocrine Syndrome Type 1

Yildiz Melek , Aydin Banu , Gezdirici Alper , Onal Hasan

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...

hrp0086p1-p44 | Adrenal P1 | ESPE2016

An Infant with X-linked Adrenal Hypoplasia Congenita and Xp21 Contiguous Gene Deletion Syndrome

Karaguzel Gulay , Mutlu Mehmet , Cebi Alper , Sahin Sevim , Polat Recep

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...

hrp0092p1-244 | Multisystem Endocrine Disorders | ESPE2019

Two Different Endocrine Cancer, One Disease; DICER-1 Mutation

Tatli Zeynep Uzan , Direk Gül , Özcan Alper , Hatipoglu Nihal , Kendirci Mustafa , Kurtoglu Selim

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...

hrp0089p1-p034 | Bone, Growth Plate & Mineral Metabolism P1 | ESPE2018

Is Plasma C-Type Natriuretic Peptide Level Available for Typing and Diagnosis of Skeletal Dysplasia Cases?

Kizilcan Cetin Sirmen , Goksen Damla , Ozen Samim , Alper Hudaver , Isık Esra , Onay Huseyin , Darcan Sukran

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...

hrp0095p1-56 | Diabetes and Insulin | ESPE2022

Curative effect contributors of exercise in type one diabetes: Irisin and Sestrin

Ceyhun Emre , Devran Sergen , Can Demirbaş Kaan , Çıkıkçı Alper , Güven Günver Mehmet , Güneş Kaya Didem , Bayramoğlu Elvan , Bayraktar Bülent , Quinn Maryanne , Olcay Evliyaoglu Saadet

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...