ESPE Abstracts

Introduction: Although the majority of the cases with obesity have a multifactorial etiology, rare monogenic forms of obesity exist. Several genetic disorders have been described that lead to early onset monogenic obesity. Leptin (LEP), leptin receptor (LEPR), melanocortin 4 receptor (MC4R), proprotein converting protein subtilisin / kexin-type 1 (PCSK1) and proopiomelanocortin (POMC) are the genetic mutations that have been most frequently shown to cause mono...

Aim: To describe the clinical pattern and laboratory characteristics at presentation of a group of children with type 1 diabetes mellitus living in the Northwest region (Trakya) of Turkey.Methods: The clinical and laboratory data of a total of 315 children who presented with newly diagnosed type 1 diabetes mellitus during a 12 year period (2006–2018) were retrospectively analyzed based on hospital records. The data were assessed by gender and age su...

Backround: Short stature (SS) is one of the common disorders referred for investigation of an endocrine disorder. The etiologies of SS vary and are commonly grouped into pathological and nonpathological disorders. Despite standard clinical and laboratory evaluation, a pathological diagnosis is not reached in 50–90% cases.Aim: The aim of this study was to determine the etiologies and decribe the characteristic of short stature patients who were follo...

Introduction: Congenital adrenal hypoplasia, a rare cause of childhood primer adrenal insufficiency, is caused by defects in transcription factors involved in the development of adrenal gland. One of them is the NROB1 (DAX1) gene, localized in Xp21.2. DAX1 mutations have been identified that cause X-linked adrenal hypoplasia congenita. Infants affected with X-linked adrenal hypoplasia congenita may present with salt-wasting, micropenis or cry...