ESPE Abstracts

Background/Purpose: Hyperprolactinemia is a rare endocrine disorder in childhood and there are limited etiological, clinical, and demographic data. The purpose of this study was to evaluate the clinical features and course of hyperprolactinemia in childhood and adolescents and to help diagnose and plan the management.Methods: In this single-center retrospective study included 21 patients with hyperprolactinemia from Ajou...

Background: There is a link between congenital hypothyroidism (CH) and neurodevelopmental abnormalities, but no longitudinal studies have yet identified reliable quantifiable measures.Purpose: To evaluate associations between CH and abnormalities in neurodevelopment and growth, and identify the timing of these abnormalities and the best time for intervention.Methods: Data from the ...

Background: Caregivers of patients with Bardet Biedl syndrome (BBS) face substantial burden from highly prevalent features of the disease, namely hyperphagia, or uncontrollable hunger, and obesity. However, the burden experienced by caregivers of individuals with BBS is not well characterized.Methods: A multicountry cross-sectional survey of caregivers of individuals with BBS was conducted to quantify the burden experien...

Background: Hyperphagia, or pathologic insatiable hunger, and early-onset obesity are prevalent clinical features of Bardet-Biedl syndrome (BBS), a rare genetic disorder. While hyperphagia and obesity have broad impacts on individuals with BBS and their caregivers, the extent of this burden is not well characterized.Methods: This multicountry cross-sectional survey of caregivers of individuals with BBS was conducted to q...

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...

Background/aim: Puberty is a mysterious process about which much is as yet unknown. MKRN3 is involved in regulating the initiation of puberty by inhibiting gonadotropin releasing hormone (GnRH) secretion. This study evaluated the serum level of MKRN3 and investigated its diagnostic usefulness in girls with central precocious puberty (CPP). Changes in the MKRN3 concentration during GnRH agonist (GnRHa) treatment were also analyzed.Methods: In total, 41 gi...

Backgrounds: The treatment of diazoxide-unresponsive congenital hyperinsulinism (CHI) is a big challenge in clinical practice. Octreotide is an off-lable medicine for CHI but widely used nowadays. However, the efficacy and adverse effects have been reported varied in centers.Objective: To evaluate the efficacy and safety of the subcutaneous octreotide injection for diazoxide-unresponsive CHI in China.Subjects and methods: Diazoxide...

Background: Vitamin D deficiency has been associated with chronic diseases, such as diabetes mellitus, obesity and autoimmune disease. However, There are only a few studies about the correlation between Vitamin D levels and precocious puberty in girls.Objective and hypotheses: In the previous study, vitamin D levels may be associated with precocious puberty. We also aimed to re-evaluate the relationship between serum 25-hydroxyvitamin D (25(OH)D) and pre...