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: The retrospective/blind glucose monitoring (bCGM) system or glucose sensors commonly used for type 1 diabetes management. The approach to hyperglycemic and hypoglycemic states is an urgent and essential issue in terms of diagnosis/treatment. Many tests are performed for the diagnostic process. We aimed to evaluate the effectiveness of bCGM (iPro™2 system) in the follow-up and treatment of patients to our clinics with hypoglycemia/hyperglyce...

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...

Introduction: Congenital multiple pituitary hormone deficiency (CMPHD) is a clinical condition that manifests in the early years of life. In most cases, pituitary stalk interruption syndrome (PSIS) can be detected by MR imaging. The current study presents a case with a novel candidate pathogenic gene Semaphorin 3A (SEMA3A) in CMPHD by whole-exome sequencing (WES).Materials and Methods: Genomic DNA was extracted from the ...

Introduction: Syndromic and monogenic obesities are rare and may have different treatment challenges and options. Patients with POMC, PCSK1, and LEPR mutations can receive setmelanotide therapy. Setmelanotide acts on the melanocortin 4 receptor. Here, as a participant in the Rare Obesity Advanced Diagnosis Project, the results of our patient data are presented.Method: Patients who became obese before the age of 5 and/or ...

Background: Turner syndrome has a variety of different karyotypes, with a wide range of phenotypic features, but the specific karyotype may not always predict the phenotype. TS with Y chromosome mosaicism may have mixed gonadal dysgenesis, and the mosaicism is related to the potential for gonadoblastoma. Our case is a mosaic Turner syndrome patient with gonadoblastoma.Case Summary: A 14-year-old girl was admitted to the ...

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 ...

The monocarboxylate transporter 8 (MCT8) is essential for transporting thyroid hormones to the brain. MCT8 deficiency occurs in SLC16A2 gene variants; patients usually present with neurological symptoms and are diagnosed with cerebral palsy or central hypothyroidism. Recently, 3,3',5-triiodothyroacetic acid (Triac) is used in treatment. This study aimed to evaluate the diagnosis and follow-up processes of five MCT8 deficiency patients. Five patients with variants in the S...