ESPE Abstracts

Background: 46,XY DSD occurs as a result of testicular developmental disorders, defect in androgen synthesis or action. Nowadays, the diagnosis of DSD is quite costly and it takes a considerable amount of time due to lengthy hormonal and genetic analysis.Objective and hypotheses: The use of targeted next-generation sequencing of all known genes associated with 46 XY DSD for a fast molecular genetic diagnosis in patients in whom underlying defect of DSD w...

Background: Diagnosis and treatment of Cushing’s disease in children are challenging.Objective and hypotheses: Cabergolin is a long acting dopamine receptor agonist used for the treatment of patients with recurrent Cushing’s disease.Method: year-old female patient admitted to the hospital because of short stature, amenorrhea, facial and body hair growth, rapid weight gain, hair loss and excessive acne.<p class="abstex...

Background: Hereditary 1,25-dihydroxyvitamin D resistant rickets (HVDRR) caused by vitamin D defective receptor.Objective and hypotheses: We performed VDR gene analysis four patients with alopecia, skeletal dysplasia, and hypocalcaemia.Method: Genomic DNA extracted from peripheric blood. Whole gene sequence analysis was performed.Results: We found homozigot p.Q152* (c.454G>T) mutation three patients. Two ...

Background: Screen (TV, tablet, smartphones, internet, video games, PC etc.) addiction is a growing problem in child health. The effect on insulin-glucose metabolism is not well known yet.Objective and hypotheses: To investigate the insulin resistance in screen addicted children.Method: We studied 108 children and adolescents aged 13.72±1.95 years (range 11–17 years). Participants were divided into three groups according ...

Background: Survival from brain tumors is increasing in children and these patients will likely have severely GH deficiency.Objective and hypotheses: To evaluate the effect of GH treatment (GHT) in children treated for brain tumor successfully.Method: Thirteen patients who received GHT after brain tumor treatment were evaluated retrospectively. Height SDS, annual growth rate SDS, height gain, and serum IGF1 levels were collected at...

Introduction: Craniopharyngiomas can lead to pituitary insufficiency and long-term endocrine complications due to the location, invasive character and risk of recurrence, besides they known as histologically benign.Aim: In this study, we aimed to evaluate the demographic, clinical features, endocrinological problems and follow-up findings in patient with craniopharyngioma in childhood.Metho...

Objective: Initiation of continuous subcutaneous insulin therapy (CSII) requires an appropriate basal rate profile. Although different approaches exist; there is a lack of evidence-based recommendations, especially in young children. Our aim was to show how the % of basal rates change at the end of first year of therapy when basal rates are equally distributed at the start of therapy.Materials and Methods: In this survey, 129 CSII patients were analyzed....

Background: Persistent Mullerian duct syndrome is the result of either anti-Mullerian hormone (AMH) deficiency or AMH receptor resistance. While the external genital structure is that of a normal virilized male, fallopian tubes and a uterus are observed in the internal genital structure. We present a case referred to our clinic because of female internal genital structure at laparoscopy during a surgical procedure performed due to undescended testes.Obje...

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...

Introduction: Family history is observed in approximately 10% of the cases with type 1 diabetes mellitus (T1DM). The most important gene that determines susceptibility is the human leukocyte antigen complex (HLA) on chromosome 6. In HLA genes; specific combinations of alleles at DR3, DR4, DRB1, DQA1 and DQB1 locus either predispose or protective for T1DM. In this study, we aimed to investigate the molecular genetic etiology by whole exome sequence (WES) analys...