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The first reported case of pseudoparathryoidism type IB in Hong Kong: hypocalcemia in an adolescent boy with recurrent seizures
International Journal of Pediatric Endocrinologyvolume 2013, Article number: P157 (2013)
Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorders characterized by hypocalcemia, hyperphoshatemia and inappropriately elevated serum parathyroid hormone (PTH) level due to end-organ resistance of biological activity of parathyroid hormone. It is due to epigenetic change at the GNAS locus and is divided into types Ia, Ib, Ic and II. We hereby describe the first reported case of pseudohypoparathyroidism type Ib Hong Kong.