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KMID : 0918520200200020044
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Journal of the Korean Society of Inherited Metabolic Disease
2020 Volume.20 No. 2 p.44 ~ p.49
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Hypocalcemic Tetany in a 10-year Old Boy: A Case of Pseudohypoparathyroidism Type 1b due to Paternal Uniparental Disomy
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Yoo Byung-Min
Kim Mi-Jin
Ko Jung-Min
Kang Min-Jae
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Abstract
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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.
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KEYWORD
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Pseudohypoparathyroidism, Pseudohypoparathyroidism Ib, GNAS, Uniparental disomy, Hypocalcemia, Tetany
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