Endocrine Journal | |
A Pseudohypoparathyroidism Type Ia Patient with Normocalcemia | |
Toshihiro TAJIMA1  Hiroko SUZUKI2  Seiji KANDA2  Yasuko TAMADA2  Toshimasa NISHIYAMA2  | |
[1] Department of Pediatrics, Hokkaido University School of Medicine;Department of Public Health, Kansai Medical University | |
关键词: PHP-Ia; Albright's hereditary osteodystrophy; Missense mutation; Normocalcemia; | |
DOI : 10.1507/endocrj.K07E-019 | |
学科分类:内分泌与代谢学 | |
来源: Japan Endocrine Society | |
【 摘 要 】
References(17)Cited-By(3)Pseudohypoparathyroidism type Ia (PHP-Ia), one of 4 types of PHP, is a genetic disease characterized by clinical hypoparathyroidism caused by parathyroid hormone (PTH) resistance. In addition, patients with PHP-Ia show resistance to other hormones as well as Albright's hereditary osteodystrophy (AHO), a constellation of features including short stature, obesity, brachydactyly, ectopic ossifications, and/or mental retardation. Hypocalcemia is one of the hallmarks of PHP-Ia, but several PHP-Ia patients have been described to have normocalcemia. We encountered a 10-year-old girl with typical Albright's hereditary osteodystrophy with round face, short stature, brachydactyly, and obesity. Biochemical examination showed normocalcemia and increased PTH levels. Ellsworth-Howard test did not show any responses of urinary cAMP and phosphate. Based on these findings, she was diagnosed as having PHP-Ia with normocalcemia. Sequencing analysis of the GNAS gene identified a heterozygous missense mutation in exon 13 (R385H), which was previously reported in a PHP-Ia patient. The exact reason for her normocalcemia is not determined, but we must recognize heterogeneous biochemical findings even in PHP-Ia.
【 授权许可】
Unknown
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