AI Article Synopsis
- Pseudohypoparathyroidism (PHP) is a rare genetic disorder that leads to low calcium levels, high phosphate levels, and increased parathyroid hormone in the blood.
- The case presented focuses on a patient with PHP type IB and subclinical hypothyroidism, along with an analysis of his family's clinical and genetic data.
- The study reviews existing literature, categorizes PHP subtypes, discusses their causes and symptoms, and offers treatment strategies to better equip healthcare professionals in managing the condition.
Article Abstract
Pseudohypoparathyroidism (PHP) is a rare genetic disease characterized by hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone (PTH) in serum. Here, we report a case of a patient with pseudohypoparathyroidism type IB (PHPIB) and subclinical hypothyroidism, analyze the clinical and genetic data of his family members, review the relevant literature, and classify and discuss the pathogenesis and clinical characteristics of each subtype. Finally, we discuss the treatment approach to improve clinicians' understanding of the disease.
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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11100510 | PMC |
| http://dx.doi.org/10.2147/DMSO.S458405 | DOI Listing |
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