ESPE Abstracts

Background: Fibrous cortical defects (FCDs) and non-ossifying fibromas (NOFs) are the most common benign lesions of the skeletal system, with an estimated incidence of up to 30% in children and adolescents.Objective and hypotheses: Although their aetiologies are unknown, FCDs and NOFs develop mostly in regions of intense bone growth. We hypothesized that patients with precocious puberty (PP) would have a higher prevalence of FCDs and NOFs than age-matche...

Purpose: Aetiologies of congenital hypothyroidism (CH) in newborn period are various, and TSH receptor (TSHR) mutation is known as one of them. We evaluated mutational analysis of the gene TSHR and clinical characteristics in the patients with CH or neonatal hyperthyrotropinemia.Method: Mutation analysis was done in 96 children with CH or transient hyperthyrotropinemia who has been managed at the Department of Pediatrics in Dankook University Hospital. C...

Background: Phosphate is an essential ion and plays a vital role in many physiological processes. Carpopedal spasm is known as a symptom of hypocalcaemia, or rarely, hypomagnesemia. We present an unusual case of carpal spasm seen in hypophosphataemia.Case presentation: 14 year old boy was admitted with acute onset of both carpal spasm. He had shrimp salad made 2 days ago, and two times of vomiting and large amount of diarrhea was developed before carpope...

Background: The IGF system is involved in the development of metabolic and cardiovascular disease. This study aimed to investigate the association of insulin-like growth factor-1 (IGF1), IGF-binding protein-1 (IGFBP1) and IGFBP3 with insulin resistance and type 2 diabetes in children.Methods: We included 36 children aged 10 to 16 years without known diabetes, medication, chronic disease. They were classified into three groups according to the results of ...

Thyroid cancer in children is not common but there is a tendency to increase requiring early suspicion and close monitoring of thyroid nodule. Papillary thyroid cancer (PTC) is the most common type of thyroid cancer and medullary thyroid cancer (MTC) is rare, MTC can be suspected if there is elevated calcitonin level. A 15-year-6-month-old girl was admitted for generalized tonic seizure with fever. Initial Brain MRI showed a small oval diffusion restriction lesion in the midli...

Background: Congenital combined pituitary hormone deficiency (CPHD) has various clinical presentations and can be caused by genetic defects related to pituitary development. We investigated the clinical features and genetic analysis in Korean patients with congenital CPHD.Method: Among 444 patients diagnosed with CPHD between 1994 and 2021 from Seoul National University Children’s Hospital, 43 patients with congeni...

Central precocious puberty (CPP) is one of the most common pediatric endocrine diseases with an ever increasing incidence. CPP is associated with the loss of final adult height, early menarche, psychological problems and an increased risk of developing diseases in later adulthood such as female reproductive system tumors. The gonadotropin-releasing hormone stimulation test (GnRHST) is the gold standard for the diagnosis of CPP. However, the test is costly and time consuming to...

Background: The gold standard for CPP diagnosis is gonadotropin releasing hormone stimulation test (GnRHST). However, this test is expensive, invasive and inconvenient for screening. Some recent studies have demonstrated that the FMV urinary luteinizing hormone (U-LH) has a strong correlation with LH peak value and serum basal LH, and a high consistency with Tanner staging results, but due to the lack of large-sample, multicenter clinical research data, a form...

Hypophosphatasia (HPP) is a genetic skeletal disease caused by loss-of-function mutations of ALPL encoding tissue-nonspecific alkaline phosphatase (TNSALP). The clinical presentation of HPP varies greatly, ranging from stillbirth without bone mineralization to findings in later life, such as delayed walking, short stature, skeletal deformities, bone pain, and pathologic fractures. The diagnosis is based on clinical examination, radiographic findings, biochemical parameters of ...

Purpose: Pheochromocytoma (PCC) and paraganglioma (PGL) (PPGL) are rare neuroendocrine tumors, and there is little information on how to treat them in children and adolescents. The objective of this study was to demonstrate the clinical presentation and treatment outcomes in children and adolescents with PPGL in a single Korean tertiary care hospital.Methods: Korean patients diagnosed with PCC and PGL before the age of 2...