ESPE Abstracts

Aim: Data on response to GH treatment in the very young children with GH deficiency is scarce. The aim of this study was to evaluate the growth response in such children in a national multicentre study and to analyse the factors affecting the growth response.Materials and methods: In this study, we retrospectively evaluated the files of GH deficiency patients who had started GH treatment between 0–3 years of age who were being followed in 14 differe...

Objective: Congenital hyperinsulinism (CHI) is the most common cause of hypoglycaemia in children. Early identification and management is crucial to prevent irreversible brain damage. CHI has a heterogeneous clinical presentation, histology and molecular biology. We aim to discuss the clinical characteristics and genotype–phenotype correlations of Turkish CHI patients from a single centre.Design and methods: A total of 15 patients with CHI were recr...

Background: Although thyroid nodules are rare in children compared to adults, the risk of malignacy is higher. Thyroid fine-needle aspiration (FNA) is a reliable diagnostic method used in the prediction of malignancy in the evaluation of thyroid nodules together with clinical and ultrasonographic findings.Objective and hypotheses: To compare clinical, ultrasonographic, cytological and histopathological findings in patients who underwent FNA.<p class=...

Context: Type 1A pseudohypoparathyroidism (PHP-1A) is characterized by target organ resistance to PTH and Albright’s hereditary osteodystrophy (AHO). Basal ganglia calcifications and subcutaneous ossifications can be seen in PHP-1A. Acetazolamide, a carbonic anhydrase inhibitor, causes metabolic acidosis by increasing bicarbonate excretion from the proximal renal tubule thereby diminish precipitation of calcium and phosphorus. Acetazolamide had been used ...

Context: Steroid 17α-hydroxylase/17,20-lyase deficiency (17OHD) is characterized by decreased sex steroids and cortisol, and excessive mineralocorticoid action. The clinical symptoms of hypocortisolemia are subtle.Aim: The clinical, biochemical, and molecular characteristics of patients with 17OHD were evaluated to determine the factors influencing the time of diagnosis and the management.Pati...

Introduction: Growth hormone (GH) treatment is used to accelerate growth in patients with Turner syndrome (TS). During treatment, evaluation of IGF-1 is strongly recommended for efficacy and safety. Some patients, despite optimum GH doses, have persistent high IGF-1 levels. In this study, we aimed to evaluate the relationship between IGF-1 levels, IGF1R and growth responses of TS patients on GH treatment.Method: 54 patie...

Introduction: SHOX deficiency is the most common cause of monogenic short stature and results in short stature with a highly variable phenotype. In this study, we aimed to detect SHOX gene pathologies in patients who applied to the pediatric endocrine outpatient clinic with short stature and who were found to have Madelung deformity on hand-wrist radiography, and to evaluate the clinical, laboratory features and responses to growth hormone (GH) treatment.<...

Background: Primary hypoparathyroidism (HP) is a rare disease characterized by hypocalcemia, hyperphosphatemia and low/inappropriately normal parathyroid hormone (PTH) levels. We aim to characterize the clinical findings and molecular aetiology of childhood HP in our cohort.Method: DiGeorge-VCFS FISH analysis was performed on all patients (n=28) as the initial step after the diagnosis. In whom, FISH analysis was...

Introduction: Medulloblastoma is the most common central nervous system tumour in children representing, approximately 20% of childhood brain tumours. Cure can be achieved with surgery, chemotherapy and radiotherapy. However, disease survivors encounter long term endocrine complications including short stature due to growth hormone (GH) deficiency and spinal radiotherapy.Patients and Methods: We aimed to investigate long...

Background: RASopathies are a group of diseases with common clinical features that occur as a result of pathogenic variants in genes encoding components of the RAS/MAPK pathway. The aim of this study was to evaluate the clinical and molecular features of RASopathy cases in our pediatric endocrinology unit.Subjects and Methods: The clinical and molecular data of 42 patients (18 girls) from 39 families were evaluated, retr...