ArticleAnnals of medicine and surgery (2012)2025
Pseudohypoparathyroidism with normocalcemia: a rare case report from Nepal.
Article in Annals of medicine and surgery (2012), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Normocalcemic pseudohypoparathyroidism type 1B complicated by hypokalemia: A case report.SAGE open medical case reports · 2026Article
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9 authors.
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Abstract
Introduction: Pseudohypoparathyroidism (PHP), a rare genetic disorder is characterized by features of hypoparathyroidism due to tissue resistance to effect of parathyroid hormone (PTH). Case presentation: A 1-year-old girl, the first child of healthy non-consanguineous parents with no family history of similar conditions or skeletal deformities, presented with small bumps on her leg, wrist, and periumbilical region for 6 months. Lab results revealed high serum phosphate, low vitamin D, normal calcium, and elevated PTH levels. Genetic testing identified a missense mutation in the Discussion: PTH regulates calcium and phosphate levels by increasing blood calcium, reducing phosphate, and promoting the production of 1,25-dihydroxy-vitamin D (calcitriol). In pseudo-hypoparathyroidism (PHP), resistance to PTH in bones and kidneys leads to low calcium, high phosphate, and compensatory hyperparathyroidism. PHP often presents with hypocalcemia and hyperphosphatemia, but normocalcemia can occur due to effective compensatory mechanisms. A hallmark of Albright hereditary osteodystrophy, subcutaneous ossifications, can signal PHP. PHP type IA, linked to Conclusion: This case highlights the importance of diagnosing PHP, even in normocalcemic patients, when clinical signs like subcutaneous ossifications are present.
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