ESPE Abstracts

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 ...

Introduction: Continuous Glucose Monitoring System (CGMS) takes place increasingly in the daily routines of diabetic patients. It has been shown that metabolic control improves when CGMS is used consistently. We aimed to show the effect of CGMS in patients using MDI therapyMaterials - Methods: All patients using multiple-dose insulin therapy at our center and continued their regular follow-up and using CGMS for at least three months were...

Introduction: Microarray (SNP array) method offers a powerful full genome scanning opportunity in the diagnosis of disorders of sex development (DSD).Aim and Method: We aimed to determine the copy number variations (CNVs) by using the microarray method to elucidate the molecular etiology in DSD patients. The variants found were scored according to the American College of Medical Genetics and Genomics criteria.<p clas...

Introduction: Thyroid hormone resistance (THR) is a syndrome characterized by decreased response to thyroid hormones in target tissues. Thyroid hormone receptor resistance alpha (THRRα) is an autosomal dominant inherited disease that is characterized by near-normal thyroid function tests (TFT) and tissue-specific hypothyroidism, and is likely to be missed in practice.Case: 10-month-old male patient was referred to ...

Introduction: Gonadal insufficiency is a common long-term endocrinological complication of BMT and is mainly associated with the chemotherapy protocol. In the literature, gonadal insufficiency after BMT varies between 66% -80% in girls and 35-60% in boysAim: to investigate the frequency and the factors affecting gonadal insufficiency in cases with BMT due to non-malignant indications in children or adolescenc...

Aim: Arthrogryposis Multiplex Congenita type II is an autosomal dominant disease, characterized by multiple congenital contractures in the limbs without a primary neurological deficit. The most frequently observed clinical features are triangular face, palpebral fissures facing downwards, clarity in nasolabial folds, small mouth, high palate, adherent ear lobes, short stature, camptodactyly, ulnar deviations in the fingers, vertical talus and/or talipes equinovarus.<p clas...

Aim: Pseudoacondroplasia is a short extremity dwarfism characterized by lifelong arthralgia and early onset osteoarthritis. At birth there is a normal height and face appearance. At the beginning of walking, first symptom is a swaying walking nature. Typically, at second year of life, short height becomes apparent and leads to a disproportionate short-limb appearance. In childhood, joint pain in the broad joints especially in the lower extremities is common. Degenerative joint...

Introduction: In children with Type 1 diabetes, the insulin dose administered to, fasting blood sugar, the amount of food,contents and glycemic index can affect the postprandial blood sugar. Despite the intensive insulin therapy and carbohydrate (CHO) counting the expected improvements in glycemic control is not observed. Compared to other fast affecting analogues, Insulin glulisine has a faster onset of effect and a shorter duration. It has previously been reported that, in c...

Donohue Syndrome is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor gene. It presents severe insulin resistance, fasting hypoglycemia, post-prandial hyperglycemia, intrauterine and postnatal growth retardation, dysmorphic features, hypertrichosis. The diagnosis of Donohue syndrome was based on the clinical characteristics, laboratory evaluation and determination of the INSR mutation. We report a Turkish female patient with genetically ...

Introduction: The world health organization has adopted diabetes as the most important health problem because of its increasing frequency and complications. Determination of changes in patient profile over the years due to type 1 diabetes (T1DM), the most common type of diabetes in childhood, is an important point in the follow up observation and treatment of diabetes.Aim: To determine the epidemiological and clinical characteristics of children and adol...