ESPE Abstracts

Introduction: Monocarboxylate transporter 8 (MCT8) is necessary for the transport of T3 to neurons. The case presented here is a male infant with neuromotor retardation initially treated for central hypothyroidism who showed no benefit from treatment and a final diagnosis of MCT8 deficiency was made.Case report: A male infant at 13 months of age was brought to the clinic because he was unable to sit without support. The perinatal history revealed that he...

Introduction: Reduction in glycemic variability and HbA1c levels are achieved by the use of continuous glucose measurement systems (CGM) in the patient with Type 1 diabetes mellitus (T1DM). Intermittently viewed CGM (iCGM) using flash technology have been used increasingly by diabetics and their families because of practicality. Evaluating of ambulatory glucose profiles (AGP) is very important in the management of T1DM.Aim and Me...

Background: Mucormycosis which is an invasive fungal disease and commonly seen in immunocompromised patients is very rare in the diabetic children.Case report: We present a case with type 1 diabetes with mucormycosis. A 14-year-old male patient was referred to our department due to polyuria, polydipsia, weight loss, headache, altered consciousness, fever, and rhinorrhea. After the diabetic ketoasidosis treatment, left facial paralysis, anisocoria, and pt...

Aim: Pituitary hypoplasia, empty sella syndrome, and ectopic neurohypophysis are common causes of pituitary MRI of the patient with congenital hypopituitarism. We aimed to search clinical and radiological examination of the patient with congenital hypopituitarism.Method: We evaluated age, diagnosis, laboratory evaluation, hormone deficiencies, accompanying diseases, and MR images of the patients with multiple pituitary hormone deficiency.<p class="ab...

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: Wolcott-Rallison syndrome (WRS) is a rare, autosomal recessive disease and characterized by early-onset diabetes, spondyloepiphyseal dysplasia, short stature, osteopenia, acute liver failure, and neurological deficit. It results from mutation in a gene of the eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3).Objective and hypotheses: We report two WRS patients diagnosed in infantile period.Me...

Background: Early tooth loss could be the consequence of the local or systemic diseases. We present an odontohypophosphatasia case with otosomal dominant mutation in ALPL gene.Objective and hypotheses: We report a case with odontohypophosphatasia and his family investigation.Method: Three-years-old boy admitted to our pediatric endocrinology clinic with toothloss without any other dental or gingival disease. His serum levels calciu...

Background: No large study comparing efficiency of prednisolone, alendronate and pamidronate has been conducted so far in children with hypercalcemia due to vitamin D intoxication.Objective and hypotheses: To perform a multicentre, retrospective study assessing clinical characteristics and treatment results.Method: A standard questionnaire was uploaded to an online national database system (www.favorsci.org) to collect data of chil...

Background: Gordon Holmes syndrome (GHS) is characterized by cerebellar ataxia/atrophy and normosmic hypogonadotropic hypogonadism (nHH). The underlying pathophysiology of this combined neurodegeneration and nHH remains unknown.Patients and methods: We studied a cohort of multiplex families with GHS through autozygosity mapping and whole exome sequencing.Results: We identified patients from three independent families carrying loss-...

Background: Thyroid cancer is a very rare malignancy of childhood. Approximately they account for 1.5% of all cancers before 15 years of age. In our country, this rate is %0.4 before 20 years of age.Aims and objectives: To analyses the clinical features and treatment results of children with thyroid malignancy in Turkey.Methods: In this multicentric and retrospective study the demographic and clinical characteristics of 124 childre...