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

Abstract

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.