ESPE Abstracts

Background: Congenital hypothyroidism (CH), the most common preventable cause of mental retardation in children, may presents with non-specific signs and symptoms. Beside, majority of the infants can be asymptomatic. Underestimation and/or misdiagnosis may cause delay in diagnosis and results in severe complications.Case report: A 5 months-old female admitted to our clinic with the history of repeated surgical operations due to the diagnosis of congenita...

Background: Mitochondrial disease is an uncommon cause of diabetes mellitus and hypoparathyroidism in children. Coexistence of these two endocrinopathies in a child with mitochondrial disease is extremely rare.Case report: An 11-year-old girl was diagnosed with type 1 diabetes mellitus due to a blood glucose of 300 mg/dl. Simultaneous C-peptide and insulin were very low, however anti-GAD, anti-islet cell and anti-insulin antibodies were negative. HbA1c w...

Background: Juvenile Paget’s disease is a rare autosomal recessive osteopathy. Patients presenting in infancy develop severe bone deformities and may never walk. Bisphosphonate therapy is used to decrease bone turnover and it has generally good responses in milder forms of the disease. However there is no long-term experience of bisphosphonates in severe infantile forms.Case report: A 9 month-old boy was referred to our clinic for bone deformities. ...

Background: Thyroid cancer before 20 years of age constitutes less than 2% of thyroid malignancies. Adult guidelines have been used in evaluation and follow-up of children until 2015. Features and long-term results of more children with PTC are needed to improve the ATA guideline for children. The aim of this study is to evaluate children with PTC in the last 15 years in a single reference-center, and assess the convenience of ATA 2015 guideline in practice.</...

Background: 3β-hydroxysteroid dehydrogenase (3βHSD) deficiency is a rare form of congenital adrenal hyperplasia (CAH) and caused by loss of function mutations in the HSD3B2 gene. In classic form, affected patients have salt wasting early in infancy and may have ambiguous genitalia in both sexes. Herein we report a nonvirilized female patient with classic form of 3βHSD deficiency due to homozygous S218P mutation in the HSD3B2 gene and classic phenylketonuria....

Objective: The aim of this study was to evaluate demographic characteristics; clinical, laboratory, imaging features; and response to treatment of boys who were followed up and treated with the diagnosis of central precocious puberty (CPP) in Turkiye.Materials and Methods: The study was planned as a multicenter, retrospective study. Cases with a diagnosis of CPP, whose follow-up data were available were included. Patient...