ESPE Abstracts

Background: Kallmann syndrome (KS), the prototype of anosmic idiopathic hypogonadotropic hypogonadism (IHH), is charecterized with HH acompanied by anosmia, absence or hypoplasia of olfactory bulbus due to defective morphogenesis. Mutations in 10 genes have been reported to cause KS while can clarify the underlying molecular defect in about 30–50% of IHH/KS cases. Beside, PROK2 gene mutations are extremely rare cause of KS. Herein, we present KS due to a homozygo...

Background: Ovarianleucodystrophies are one of the rarest leucodystrophies associated with primary ovarian failure. Patients may present with variable disease manifestations such as neurologic, psychiatric or ovarian failure. Disease onset may occur in infancy, adolescence or adulthood caused by mutation in the eukaryotic initiation factor 2B (eIF2B) which has a poor prognosis.Objective and hypotheses: Seventeen-year-old girl was brought with tremor, gai...

Purpose: The purpose of this study was to assess the values of the mean platelet volume (MPV), a predictor of cardiovascular disease, in paediatric patients with attention deficit hyperactivity disorder (ADHD) and with autism spectrum disorders (ASD), in addition to healthy controls, to determine the risk of cardiovascular disease in these two disorder groups.Material and method: The study included a total of 79 patients aged 3–18 with ADHD (36 pati...

Aim: The purpose of this study was to assess whether pantoprazole could be a new treatment option in the therapy of children with obesity and insulin resistance.Methods: This study was conducted on 46 children and adolescents with exogenous obesity and insulin resistance. The patients were randomly chosen and divided into therapeutic groups of metformin, pantoprazole, and metformin plus pantoprazole.Results: There was no difference...

Backgound: Type 1 diabetes mellitus (T1DM) is one of the chronic disease frequently encountered in childhood and the non-alcoholic fatty liver disease is one of the uncommon complications in the management of these patients.Objective and hypotheses: In this study, we aimed to investigate the relationship between serum fetuin-A levels which a negative acute phase reactant and the non-alcoholic fatty liver disease in T1 diabetic patients.<p class="abst...

Background: Tacrolimus is highly potent immunosuppressant agent. Despite it is quite prophylactic effect on renal allogreft rejection, the most marked side effect of tacrolimus is lead to posttranslated diabetes mellitus. There are some predictive risk factors which are determined on development of tacrolimus related diabetes mellitus: Advanced age, familial history, genetic factors, ethnicity, impaired glucose tolerance or metabolic syndrome in pre-transplantation period, obe...

Objective: To evaluate thyroid hormones and antibodies, vitamins B12 and D levels, ferritin levels, adrenal and gonadal steroid levels in children diagnosed with ADHD and ASD.Material method: Patients between the ages of 2–18 years followed-up with the diagnosis of ADHD and ASD in the Van region were included in this study. The weights and heights of the patients were recorded and then the blood samples were obtained between 0800 and 0900 h. in the ...

Background: Glucose is the main energy source for the brain’s cells. Glucose transporter 1 (GLUT1), encoded by the SLC2A1 gene, is a membrane protein that plays an essential role in the transport of glucose across the blood-brain barrier. A mutation in GLUT1, so-called GLUT1 deficiency syndrome (GLUT1 DS; OMIM #606777), results in low levels of glucose in the cerebrospinal fluid despite normoglycaemia. GLUT1 deficiency causes a series of symptoms that ma...

A 13-year-old patient was admitted due to delayed puberty. Ovary and uterus had not seen in USG and MRI. On physical examination; body weight: 57 kg (79 P), height 157.7 cm (45P), BMI: 22.9 (83P), TA: 120/80 mmHg. The patient was externally in female appearance and there was no puberty development. Labia minora was seen. The urethral and vaginal openings were in the vestibulum and bilateral gonads could not be palpated in the inguinal canal. Mother and father was cousin. Fathe...

Background/Aim: Type 1 diabetes Mellitus (T1DM) often presents with clear clinical signs after a long-term asymptomatic autoimmune process. This long and silent period has been leading to an increase in awareness day by day in order to prevent and predict the development of the disease. Among the well-known genetic and environmental risk factors, close relatives of the index cases constitute a population that is quite suitable for predicting and preventing the...