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DOI 10.7759/cureus.16243

Медицинская библиотека · Cureus · 2021

Is All Hypocalcemia Due to Low Parathyroid Hormone?: An Unusual Case of Pseudohypoparathyroidism in a Young and Healthy Patient.

Shah Farhan A, Fujikawa Priscilla, Braford Michalla, Patel Kashyap, Rasul Kamran

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Аннотация

Pseudohypoparathyroidism is a rare disorder that is characterized by hypocalcemia and hyperphosphatemia that are unresponsive to the parathyroid hormone. We present a unique case of pseudohypoparathyroidism seen in a 33-year-old male who presented with abnormal laboratory findings including hypocalcemia, hypokalemia, hypomagnesemia, hyperphosphatemia, and positive Trousseau's sign. Pseudohypoparathyroidism is a rare phenomenon, with an estimated prevalence between 0.3 and 1.1 cases per 100,000. Genetic mutations have been noted to play a role in the presentation of pseudohypoparathyroidism. Clinical phenotypical manifestations can include brachydactyly, short stature, a stocky build, and a round face. Similar routine follow-up and treatment as traditional hypoparathyroidism is practiced. This case highlights a unique endocrinologic pathology that clinicians should be more aware of, as it can be confused with hypoparathyroidism.

Для цитирования: Shah Farhan A, Fujikawa Priscilla, Braford Michalla, Patel Kashyap, Rasul Kamran. Is All Hypocalcemia Due to Low Parathyroid Hormone?: An Unusual Case of Pseudohypoparathyroidism in a Young and Healthy Patient.. Cureus. 2021. DOI: 10.7759/cureus.16243.
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