ESPE Abstracts

Background: Treg cells are characterized by expression of Foxp3 molecule that serve as keys in the maintenance of peripheral tolerance and in controlling the immune response. The exact role of Treg cells in the pathogenesis of CAT has not been recognized yet.Objective and hypotheses: It is suggested that vitamin D is one of the factors that can regulate the function of Treg cells. In this study, the relationship between Treg cells (levels and expression)...

Background: Chanarin–Dorfman syndrome is a rare autosomal recessively inherited neutral lipid disorder which is characterized by congenital ichthyosis and multiple system involvement. It is diagnosed by visualization of lipid vacuoles in neutrophiles (Jordon anomaly) in suspicious cases. This syndrome can be associated with type 2 diabetes.Aim: We wished to remind this very rare disease in differential diagnosis of ichthyosis associating with diabet...

Background: Stiff-person syndrome (SPS) is a rare disorder which is characterized by muscle rigidity, spasm and cerebellar abnormalities. The etiology is not clarified yet. 80% of cases are caused by an autoantibody against GAD that inhibits synthesis of GABA. Other autoimmune diseases such as type 1 diabetes mellitus and thyroiditis are often associated.Aim: To underline the importance of considering SPS in differential diagnosis of patients with type 1...

Background: Although phaeochromocytoma is commonly considered in the differential diagnosis paroxysmal hypertension, only a small percentage of patients are actually diagnosed with this disorder. After exclusion of phaeochromocytoma, panic attack and pseudophaeochromocytoma should be considered in the differential diagnosis in patients with these symptoms. Here we report a rare case of pseudophaeochromocytoma presented with severe symptomatic hypertension attacks.<p class=...

Background: X-linked dominant hypophosphatemic rickets (XLHR) is a rare hereditary metabolic bone disorder. Calcitriol and phosphates are used for the treatment and hyperparathyroidism rarely occurs as a complication. We report a case of XLHR who developed autonomous parathyroid hyperfunction during treatment and underwent surgery for that.Case: A male patient was presented with short stature and bone deformities at age 11 months and diagnosed with XLHR ...

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: Klinefelter syndrome, also known as 47, XXY, is a disorder characterized by tall stature, hypogonadism and mental retardation which is caused by nondisjunction events during meiosis and occurs in 500–1 000 live male birth. Here we report a patient with Klinefelter syndrome who presented with short stature, in contrast to common tall stature presentation and was diagnosed with GH deficiency.Case: A 7-year-old male presented with short sta...

Introduction: Brain-lung-thyroid syndrome (BATS) is a rare autosomal dominant inherited syndrome that develops due to mutations in the NKX2-1 gene, which is a thyroid transcription factor, and is characterized by respiratory distress in the neonatal period, congenital hypothyroidism, and choreatetosis. Approximately half of affected patients have the complete triad, with 30% affected by the neurological phenotype (motor developmental delay, gait difficulties, choreatetosis, hy...

Objective: The aim of this study was to investigate the effect of COVID-19 pandemic restrictions on the frequency of diabetic ketoacidosis (DKA) at the time of diagnosis in children with type 1 diabetes (T1D).Method: The medical records of children with T1D who were diagnosed between 16.03.2018 and 16.03.2022 in pediatric endocrinology clinics in Elazig province in Turkey were retrospectively reviewed for the presence of...

Objective: To evaluate the correlation of GNAS gene mutation in clinically diagnosed pseudohypoparathyroidism patients and to examine accompanying hormonal abnormalities and phenotypic features.Materials and Methods: Our study group consisted of 6 patients who were followed and treated with the diagnosis of pseudohypoparathyroidism in our clinic. Calcium (Ca), phosphorus (P), and parathyroid hormone (PTH) levels were eva...