A Pseudohypoparathyroidism Type Ia Patient with Normocalcemia

• TAMADA Yasuko

  Department of Public Health, Kansai Medical University Department of Pediatrics, Matsubara Municipal Hospital

• KANDA Seiji

  Department of Public Health, Kansai Medical University Regeneration Research Center for Intractable Diseases, Kansai Medical University

• SUZUKI Hiroko

  Department of Public Health, Kansai Medical University Regeneration Research Center for Intractable Diseases, Kansai Medical University

• TAJIMA Toshihiro

  Department of Pediatrics, Hokkaido University School of Medicine

• NISHIYAMA Toshimasa

  Department of Public Health, Kansai Medical University Regeneration Research Center for Intractable Diseases, Kansai Medical University

Abstract

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.<br>

Journal

• Endocrine Journal

  Endocrine Journal 55 (1), 169-173, 2008

  The Japan Endocrine Society

Keywords

• PHP-Ia
• Albright's hereditary osteodystrophy
• Missense mutation
• Normocalcemia

Details

• CRID: 1390282681275701888
• NII Article ID: 10021264932
• NII Article ID: 130004443364
• NII Book ID: AA10901436
• DOI: 10.1507/endocrj.k07e-019
• ISSN: 13484540
• ISSN: 09188959
• Web Site: http://www.jstage.jst.go.jp/article/endocrj/55/1/55_K07E-019/_pdf
• Web Site: https://search.jamas.or.jp/link/ui/2008175211
• Text Lang: en
• Data Source:
  • JaLC
  • Crossref
  • CiNii Articles
• Abstract License Flag: Disallowed