PSEUDOHYPOPARATHYROIDISM TYPE 1B WITH ASYMPTOMATIC HYPOCALCEMIA
作者： Claudia Matta-Coelho , Joana Mesquita , Selma B. Souto
关键词: Asymptomatic 、 Calcitriol 、 Internal medicine 、 Albright hereditary osteodystrophy 、 Gastroenterology 、 Rare case 、 Pseudohypoparathyroidism Type 1b 、 Medicine 、 Hyperphosphatemia 、 Parathyroid Hormone Resistance 、 Female patient
摘要: Objective: To report the rare case of an asymptomatic female patient with pseudohypoparathyroidism type 1b. Methods: The diagnosis 1b was confirmed by analysis methylation status methylation-specific multiplex ligation-dependent probe amplification. Results: A 21-year-old referred to endocrinology clinic due elevated parathyroid hormone level as incidental finding. Her personal and family histories were unremarkable there no Albright hereditary osteodystrophy stigmata. Initially only presented level, without hypocalcemia or hyperphosphatemia. exhibited signs symptoms hypocalcemia. After 6 months treatment calcium calcitriol commenced, despite her remaining asymptomatic. genetic study compatible sporadic Conclusion: An finding w...
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