ESPE Abstracts

Background: Bone morphogenetic protein 15 (BMP15), is an oocyte-specific growth factor, that regulates folliculogenesis and ovulation rate. It is encoded by the BMP15 gene (chromosome Xp11.2), in which heterozygous missense variants in the precursor or mature peptide cause primary ovarian insufficiency (POI) with the dominant-negative effect. BMP15-related ovarian dysgenesis (OD) constitutes 1.5-2.0% of POI. The underlying mechanism ...

Introduction: 17 β-Hydroxysteroid Dehydrogenase Type 3 (17β-HSD3) enzyme provides the conversion of ∆4-Androstenedione (A) to testosterone (T) in testicles. 17β-HSD3 deficiency is a rare autosomal recessive cause of 46,XY disorders of sexual development (DSD) and is the most common form of testosterone biosynthesis defects. The external genitalia can vary from normal female appearance to atypical genitalia.C...

Introduction: Although thyroid nodule is seen less frequently in childhood than in adults, it is more likely to be malignant. The aim of this study was to examine the characteristics of the patients followed up for thyroid nodules and to define the patients with malignant potential by laboratory, radiological and cytological evaluations.Method: 100 patients (F/M:63/37) with thyroid nodules followed up in Pediatric Endocr...

Background and Aims: Irisin is a newly discovered adipomyokine that occurs by the cleaved from a transmembrane protein called "Fibronectintype III domain containing 5" (FNDC5).Previously, there was a change in irisin levels in different prepubertal and pubertal stages.Although the mechanisms that trigger the onset of puberty cannot be explained yet, there is a hypothesis that peripheral adipose tissue and adipokines secreted there may induce the initia...

Introduction: MODY is an autosomal dominant inherited type of diabetes that has been diagnosed before the age of 25 and caused by pancreatic β-cell dysfunction. HNF1B-MODY is more rare than other MODY causes and its frequency is between 1-5%. Mutations in HNF1B (MODY 5) are associated with pancreatic agenesis, kidney anomalies, genital system malformations and liver dysfunction.Case: The patient is 8 years 2 ...

Background: Limbic encephalitis (LE) is a neurological disorder characterized with amnesia, seizures, personality changes. LE is usually considered as paraneoplastic disorder. Infections, paraneoplastic disorders and autoimmunity should be considered in LE etiology. Association of type 1 diabetes mellitus and LE is very rare. Here in we report a patient who was diagnosed with type 1 diabetes mellitus (T1DM) six months after LE occurrence.Case: A 17-year-...

The aim of this study was to evaluate the diagnosis at the first examination and last visit, etiology, prognosis, clinical properties of girls referred to the pediatric outpatient clinic with a presumptive diagnosis of early puberty for ten years and defining the effect of treatment on final height (FHt). In this single-center study, we included 1330 patients who were diagnosed during the years 2004–2014. History, anthropometric data, bone age (BA), hormones and pelvic ul...

Background: Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by reduced sensitivity of target tissues to thyroid hormone.Objective and hypotheses: We describe the clinical, biochemical data and mutation analysis of two patients and their families with (RTH).Method: We conducted clinical studies and genetic analysis of these two patients and their families.Results: First patient refer...

Background: Endothelial dysfunction is thought to be a key event in the development of atherosclerosis. Demonstration of increased endoglin expression in atherosclerotic plaques suggested participation of endoglin in atherogenesis. Endoglin expression was also related to nitric oxide (NO) production in endothelium.Objective and hypotheses: Aim of the study was to evaluate the subclinical atherosclerosis in adolescents with type 1 diabetes mellitus (T1DM)...

Background: Wolcott-Rallison syndrome (WRS) is a rare, autosomal recessive disease and characterized by early-onset diabetes, spondyloepiphyseal dysplasia, short stature, osteopenia, acute liver failure, and neurological deficit. It results from mutation in a gene of the eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3).Objective and hypotheses: We report two WRS patients diagnosed in infantile period.Me...