ESPE Abstracts

Introduction: Aggrecan, a chondroitin sulfate proteoglycan encoded by the ACAN gene, is an important structural component of the cartilage matrix. Variants in the ACAN gene are associated with a group of skeletal dysplasias called aggrecanopathy, which shows a broad phenotypic spectrum. It has been reported that some heterozygous variants in this gene are responsible for the etiology of familial or idiopathic short stature located at the lightest end of the sp...

Entrance: HOXA gene deletions cause an appearance characterized by short stature, mild developmental delay, characteristic face, small hands and feet, short and large thumbs, and urogenital malformations. Clinical signs may vary according to the content of the deletion region.Case: The case applied to our clinic with the complaint of short stature. It was learned that the patient was born at term 2500 gr and had bilatera...

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...

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: 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: Serum sickness should be considered for the symptoms such as fever, arthralgia and urticaria existing 2–3 weeks after drug administration. Serum sickness is prototype of type 3 hypersensitivity reactions. Nephropathy and vasculitis may occur and main finding is hypocomplementemia. Several drugs such as antibiotics were reported as the reason of serum sickness disease.Objective and hypotheses: According to our knowledge, herein we report ...

Background: Stevens-Johnson Syndrome (SJS) is an acute life-threatening dermatosis characterized by conjunctivitis, oral ulcerations, fever and erythematous macules. The most important etiological factors are infections and drugs including anticonvulsants and nonsteroidal anti- inflammatories.Objective and hypotheses: Cases with both SJS and type 1 diabetes mellitus have been reported rarely in the literature. Herein, we report a diabetic case of recurre...