Young Sil Eom

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Isolated hypoparathyroidism (IH) shows heterogeneous phenotypes and can be caused by defects in a variety of genes. The goal of our study was to determine the clinical features and to analyze gene mutations in a large cohort of Korean patients with sporadic or familial IH. We recruited 23 patients. They showed a broad range of onset age and various values(More)
OBJECTIVE Activating mutations of the calcium-sensing receptor (CASR) gene are associated with autosomal dominant hypocalcemia (ADH) characterized by benign hypocalcemia, inappropriately low (PTH) levels and mostly hypercalciuria. Herein, we report a novel activating mutation in the CASR gene in a Korean family with ADH. METHOD The CASR gene was sequenced(More)
We read with interest an article published recently in the World Journal of Surgery regarding the role of unilateral adrenalectomy in ACTH-independent macronodular adrenal hyperplasia (AIMAH) [1]. In our institution, we have experience with a few cases of AIMAH including the familial type that were all treated by bilateral adrenalectomy [2–4]. Among them,(More)
BACKGROUND It is known that diabetes and stress are directly or indirectly related, and that it is important to evaluate stress in patients with diabetes. The relationship between Korean diabetics and diabetes-related stress has never been reported. The objective of this study was to develop a stress questionnaire suitable for use with Korean diabetics and(More)
OVERVIEW Glial cells missing B (GCMB) is a transcription factor that is expressed in the parathyroid hormone (PTH)-secreting cells of the parathyroid glands. Several mutations in GCMB have been reported to cause hypoparathyroidism (HP). We identified a family with two individuals in two generations (mother and son), who are affected by autosomal-dominant(More)
BACKGROUND Multiple endocrine neoplasia type 1 (MEN1) is a rare inherited disorder characterized by the simultaneous occurrence of endocrine tumors in target tissues (mainly the pituitary, endocrine pancreas, and parathyroid glands). MEN1 is caused by mutations in the MEN1 gene, which functions as a tumor suppressor and consists of one untranslated exon and(More)
Long-term use of thiazolidinediones (TZDs) is associated with bone loss and an increased risk of fracture in patients with type 2 diabetes (T2DM). Incretin-based drugs (glucagon-like peptide-1 (GLP-1) agonists and dipeptidylpeptidase-4 (DPP-4) inhibitors) have several benefits in many systems in addition to glycemic control. In a previous study, we reported(More)
• The authors have no financial conflicts of interest. which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. To the Editor: Lingual thyroid is a rare embryological anomaly caused by failure of the gland to descend from the foramen cecum to its normal site in the(More)
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