X-linked hypophosphatemic osteomalacia with PHEX mutation presenting late in Pakistan

Nawazish Zehra, Lena Jafri, Salman Kirmani, Aysha Habib Khan

Research output: Contribution to journalArticlepeer-review


Abstract.introduction.and.importance: Autosomal dominant hypophosphatemic rickets is the most common form of rare rickets, commonly manifests in children but sometimes the condition remains undiagnosed due to lack of knowledge &/or awareness of treating physicians or surgeons. Case presentation: We describe a case of 43 years old female with multiple fragility fractures since childhood, corrected surgically but never investigated. She had stunted growth, bowing deformities and loss of teeth. Clinical discussion: A detailed history and examination along with metabolic and genetic work up mounted the diagnosis of X linked hypophosphatemic osteomalacia. The pathophysiology involves the mutation or the loss of the phosphate regulating gene on PHEX, that causes reduced mineralization of bones and teeth. Conclusion: Diagnostic delay in this patient resulted in increased disabilities affecting her mobility and lif estyle.

Original languageEnglish
Pages (from-to)244-248
Number of pages5
JournalAnnals of Medicine and Surgery
Publication statusPublished - Feb 2021


  • Autosomal dominant
  • Case report
  • Osteomalacia/rickets
  • PHEX mutation


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