Is All Hypocalcemia Due to Low Parathyroid Hormone?: An Unusual Case of Pseudohypoparathyroidism in a Young and Healthy Patient.
| Autor: | Shah FA; Internal Medicine, Lewis Gale Medical Center, Salem, USA., Fujikawa P; Internal Medicine, Lewis Gale Medical Center, Salem, USA., Braford M; Internal Medicine, Edward Via College of Osteopathic Medicine, Salem, USA., Patel K; Internal Medicine, Lewis Gale Medical Center, Salem, USA., Rasul K; Endocrinology and Diabetes, Lewis Gale Medical Center, Salem, USA. |
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| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2021 Jul 07; Vol. 13 (7), pp. e16243. Date of Electronic Publication: 2021 Jul 07 (Print Publication: 2021). |
| DOI: | 10.7759/cureus.16243 |
| Abstrakt: | 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. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2021, Shah et al.) |
| Databáze: | MEDLINE |
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