ArticleThe Journal of international medical research2026
Pseudohypoparathyroidism in a Chinese girl: A case report.
Article in The Journal of international medical research, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Pseudohypoparathyroidism is a rare genetic disorder characterized by hypocalcemia, hyperphosphatemia, and elevated serum intact parathyroid hormone levels. The taxonomy of pseudohypoparathyroidism is intricate, with heterogeneous clinical presentations and lack of specificity. A school-age Chinese girl was admitted with a 2-day history of fever and a single episode of seizure, with no clinical features of Albright hereditary osteodystrophy. Physical examination revealed positive Chvostek's and Trousseau's signs, with no other significant abnormalities. Laboratory tests revealed hypocalcemia, elevated intact parathyroid hormone levels, and transient hypokalemia (2.8 mmol/L). Whole-exome sequencing showed a 2.1-Kb deletion of exons 4-6 in syntaxin 16 (
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