ESPE Abstracts

Purpose: This study aimed to profile children diagnosed with hypercalcemia of different etiologies at a single center.Method: We retrospectively reviewed 13 children diagnosed with hypercalcemia of different etiologies.Results: We describe 13 pediatric cases, aged 4 months to 12 years old (median age: 8 months), diagnosed from 2018 to 2021. Six males and seven females were included...

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...

Background: Clinical use of serum gonadotropins (Gn) test for diagnosis of pubertal disorders is always limited by invasive sampling, requirement of hospital visit, high expense and the feature of pulsatile secretion of Gn. As an alternative, evaluating first morning voided (FMV) urinary Gn (U-Gn) may facilitate non-invasive pubertal assessment.Objective: In this study, we will explore whether FMV U-Gn can predict the ac...

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...

Background/purpose: Graves’ disease (GD) is an autoimmune disorder characterized by hyperthyroidism, diffuse goiter, and/or ophthalmopathy that is caused by the activation of the thyroid-stimulating hormone (TSH) receptor by thyrotropin receptor antibodies (TRAb). GD is the most common cause of thyrotoxicosis in children and adolescents, accounting for 10-15% of all thyroid illness in children and adolescents. The treatment of GD in children and adolesce...

Objective: To summarize the clinical characteristics, genetics and follow-up data of five children with thyroid hormone resistance syndrome (RTH) and review the related literatures.Methods: The clinical data of the five children diagnosed with RTH in our hospital from 2018 to 2020 were retrospectively analyzed. Next-generation sequencing of the candidate genes related to thyroid diseases was performed using the blood col...

Background: Defects of the insulin receptor gene (INSR) can cause genetic syndromes associated with a wide diverse range of congenital insulin resistance from milder insulin-resistant diabetes mellitus (Type A insulin resistance syndrome, TAIRS) to leprechaunism (Donahue syndrome). Clinical features in TAIRS vary due to the severity of damage in INSR, precise diagnosis is challenging.Materials and Methods</stron...

Hypochondroplasia (HCH) is an autosomal dominant inherited skeletal dysplasia with abnormal growth pattern and inadequate pubertal growth spurt. Achondroplasia and HCH have many similar phenotype, however, HCH show the mildest phenotype among FGFR3-associated skeletal dysplasia, and the radiologic findings are usually so subtle. We investigated to evaluate clue for the hypochondroplasia, and clinical and genetic characteristics of eleven Korean patients with HCH. We a...