Clinical pedigree analysis of pseudohypoparathyroidism with the first symptom being congenital hypothyroidism

  • LYU Juan ,
  • LU Weibing ,
  • ZHANG Liqin ,
  • DU Wei ,
  • XING Quansheng
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  • Qingdao Women and Children's Hospital Affiliated to Qingdao University, Qingdao 266034, Shandong, China

Received date: 2018-12-15

  Online published: 2018-12-15

Abstract

 Objective To explore the pathogenesis, clinical characteristics and treatment of pseudohypoparathyroidism (PHP) Ia. Method The clinical and genetic data of PHP Ia in a child and her family members were retrospectively analyzed. Results The child had congenital hypothyroidism as first symptom, and then gradually had Albright hereditary osteodystrophy (AHO), low calcium, high phosphorus and resistance to parathyroid hormone. After treatment with calcitriol and calcium, blood calcium and phosphorus were close to normal, but there was no significant change in AHO malformation. Conclusion PHP combined with congenital hypothyroidism is rare.

Cite this article

LYU Juan , LU Weibing , ZHANG Liqin , DU Wei , XING Quansheng . Clinical pedigree analysis of pseudohypoparathyroidism with the first symptom being congenital hypothyroidism[J]. Journal of Clinical Pediatrics, 2018 , 36(12) : 894 . DOI: 10.3969/j.issn.1000-3606.2018.12.002

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