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Late-Onset Pseudohypoparathyroidism: A Case Report
Rasha Ebrahim1, Noorbina Peedika Parambil2, Harris Poolakundan3
1Department of Medical Education, Hamad Medical Corporation, Doha, QAT.
Abstract:
Pseudohypoparathyroidism (PHP) is a rare endocrine disorder due to end-organ resistance to parathyroid hormone (PTH), resulting in hypocalcemia and hyperphosphatemia despite elevated PTH levels. It usually presents in children with distinctive features known as Albright Hereditary Osteodystrophy (AHO). We report a 33-year-old man who presented with wrist pain, muscle spasms, and tingling in his hands. Laboratory investigations revealed hypocalcemia, hyperphosphatemia, and elevated serum PTH, with normal serum magnesium, renal function, and vitamin D levels, suggestive of PTH resistance. The patient was managed with calcium and vitamin D supplementation. This case highlights the diagnostic challenges of adult-onset PHP in the absence of classical features of AHO and emphasizes the importance of recognizing biochemical patterns of PTH resistance. Timely diagnosis and management can lead to symptom resolution and prevent long-term complications, such as skeletal abnormalities, neurological symptoms, cataracts, and dental abnormalities.
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