Hypocalcemia, characterized by low blood calcium levels, can range from asymptomatic to life-threatening. Common causes include hypoparathyroidism and vitamin D deficiency (VDD). Pseudohypoparathyroidism is a rare metabolic disorder marked by resistance to parathyroid hormone (PTH). This report details a young female presenting with severe hypocalcemia, hyperphosphatemia, and elevated PTH levels. She also had an associated VDD, which complicated the clinical picture. Despite receiving intravenous calcium and oral supplementation, she required extended treatment and readmission. Genetic testing revealed a variant in the CACNA1S gene. Her condition eventually stabilized with a strict, adjusted treatment regimen. This case underscores the importance of a systematic diagnostic approach, prolonged intravenous calcium therapy, and close monitoring. Pseudohypoparathyroidism represents a rare cause of severe hypocalcemia, emphasizing the need for close monitoring and regular follow-up to achieve improved outcomes.
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Alam et al. (2024) studied this question.
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