Skip Navigation
Skip to contents

Endocrinol Metab : Endocrinology and Metabolism


Author index

Page Path
Jimin Kim  (Kim J) 1 Article
Bone Metabolism
A Novel PHEX Gene Mutation in a Patient with Sporadic Hypophosphatemic Rickets
Yea Eun Kang, Jun Hwa Hong, Jimin Kim, Kyong Hye Joung, Hyun Jin Kim, Bon Jeong Ku, Koon Soon Kim
Endocrinol Metab. 2014;29(2):195-201.   Published online June 26, 2014
  • 3,366 View
  • 34 Download
  • 4 Citations
AbstractAbstract PDFPubReader   

Phosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) is a common cause of X-linked hypophosphatemic (XLH) rickets. Diverse PHEX gene mutations have been reported; however, gene mutations in sporadic rickets are less common than in XLH rickets. Herein, we describe a 50-year-old female patient with sporadic hypophosphatemic rickets harboring a novel splicing-site mutation in the PHEX gene (c.663+1G>A) at the exon 5-intron 5 boundary. The patient had recently suffered from right thigh pain and an aggravated waddling gait. She also presented with very short stature, generalized bone pain, and muscle weakness. Despite low serum phosphate levels, her phosphate reabsorption rate was lower than normal. Additionally, her 1,25-dihydroxyvitamin D3 concentration was lower than normal, although FGF23 level was normal. After treatment with alfacalcidol and elemental phosphate, her rachitic symptoms subsided, and callus formation was observed in the fracture site on the right femur.


Citations to this article as recorded by  
  • A pathogenic PHEX variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets
    In Hwa Jeong, Jae-Ho Yoo, Namhee Kim
    Annals of Pediatric Endocrinology & Metabolism.2021; 26(2): 130.     CrossRef
  • A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets
    Misun Yang, Jinsup Kim, Aram Yang, Jahyun Jang, Tae Yeon Jeon, Sung Yoon Cho, Dong-Kyu Jin
    Annals of Pediatric Endocrinology & Metabolism.2018; 23(4): 229.     CrossRef
  • Rodzinna krzywica hipofosfatemiczna – opis przypadku i przegląd literatury
    Agnieszka Jędzura, Omar Bjanid, Piotr Adamczyk, Krzysztof Plesiński, Karolina Klimaszewska-Adamus, Maria Szczepańska
    Pediatria Polska.2015; 90(5): 437.     CrossRef
  • Articles in 'Endocrinology and Metabolism' in 2014
    Won-Young Lee
    Endocrinology and Metabolism.2015; 30(1): 47.     CrossRef
Close layer

Endocrinol Metab : Endocrinology and Metabolism