ESPE Abstracts

Background: It is known that PDX-1 gene mutation is related to neonatal diabetes, pancreas agenesis and intrauterine growth retardation. Here the aim was to present a novel defined mutation in PDX-1 gene in case born with IUGR, diagnosed with neonatal diabetes and in which exocrine pancreas deficiency and gallbladder agenesis were detected.Case presentation: Blood glucose was measured as 185 mg/dl in the first hour after birth and insulin infusion was gi...

Copy-number variation (CNV) is a kind of malfunction of DNA polymerase to produce extra genetic material which leads to more number of repeats in genes. CNVs have been associated with different clinical phenotypes, such as learning disabilities, short stature, and intellectual disability. The chromosomal microarray analysis is an effective diagnostic method for identifying new CNVs and understanding their clinical effects. In this case report, a variation that has not been rep...

Introduction: Physiological pubertal gynecomastia is common in adolescents aged 13-14 years. Most physiological pubertal gynecomastia regresses spontaneously within 1-2 years. In studies: If it lasts more than 2 years, if prepubertal has started, endocrine evaluation is recommended. Sex differentiation disorders or genital abnormalities such as increased aromatase activity, adrenal/testicular neoplasia, partial androgen insensitivity syndrome and Klinefelter s...

Introduction: The incidence of Cushing disease (CD) is 0.7-2.4/year per million, andadolescents and children make up 10% of new cases annually. However, thesensitivity and specificity of tests used to diagnose CD in childhood may bepoor, resulting in difficulties in diagnosis and treatment. The aim was to reportpediatric CD patients attending our pituitary referral center for surgery and todescribe their diagnosis, treatment and long-term follow-up.<p clas...

Background: Thyroid cancers are rare in childhood. ATA guideline (Pediatric section) has been applied in daily practice since 2015. It is very significant to accurately predict the risk in the management of differentiated thyroid cancer(DTC). For this purpose, we shared our single center-20-year-experience about the follow-up features and management of childhood and adolescent thyroid cancer. We aimed to evaluate the dynamic risk stratification (DRS) and the o...