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Hypocalcemic Tetany in a 10-year Old Boy: A Case of Pseudohypoparathyroidism Type 1b due to Paternal Uniparental Disomy  

Yoo, Byung Min (Department of Pediatrics, Hallym University College of Medicine)
Kim, Mijin (Department of Pediatrics, Hallym University College of Medicine)
Ko, Jung Min (Department of Pediatrics, Seoul National University College of Medicine)
Kang, Min Jae (Department of Pediatrics, Hallym University College of Medicine)
Publication Information
Journal of The Korean Society of Inherited Metabolic disease / v.20, no.2, 2020 , pp. 44-49 More about this Journal
Abstract
Pseudohypoparathyroidism (PHP) is a disorder characterized by hypocalcemia and hyperphosphatemia due to end organ resistance to parathyroid hormone. PHP is caused by the deficiency of the α-subunit of the stimulatory G protein encoded by the GNAS gene, and this defect arises from genetic or imprinting disturbances. Sporadic PHP 1b shows two or more methylation defects of upstream of GNAS gene and some of them lead to loss of maternal GNAS imprints, therefore, only paternally derived GNAS gene is expressed. Here, we report a 10 year 9 month old boy presented with intermittent tetany who was finally diagnosed with PHP 1b caused by paternal uniparental disomy of chromosome 20q.
Keywords
Pseudohypoparathyroidism; Pseudohypoparathyroidism Ib; GNAS; Uniparental disomy; Hypocalcemia; Tetany;
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