Improving the diagnosis of X-linked hypophosphatemia: recommendations to optimize diagnostic flow and clinician/geneticist cooperation in the Italian clinical practice


  • Emanuele Agolini Medical Genetics Laboratory, IRCCS Ospedale Pediatrico Bambino Gesù, Rome - Italy
  • Roberto Chimenz Pediatric Nephrology Unit, Azienda Ospedaliera Universitaria G. Martino, Messina - Italy
  • Danilo Fintini Endocrinology Unit, University Pediatric Hospital Department, IRCCS Ospedale Pediatrico Bambino Gesù, Rome - Italy
  • Vito Guarnieri Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza di San Giovanni Rotondo, Foggia - Italy
  • Laura Guazzarotti Clinical Pediatric Unit, Azienda Ospedaliera Universitaria di Padova, Padua - Italy
  • Stefano Mora Pediatric Endocrinology Unit, IRCCS Ospedale San Raffaele, Milan - Italy
  • Leonardo Salviati Clinical Genetics Unit, Department of Women and Children’s Health, University of Padova, Padua - Italy
  • Giovanna Weber Vita-Salute San Raffaele University, Department of Pediatrics, IRCCS Ospedale San Raffaele, Milan - Italy



Genetic testing, Hypophosphatemic rickets, Patient care, PHEX, X-linked hypophosphatemia, XLH diagnosis


Objective: To provide Italian expert opinion-based practical recommendations to improve the cooperation between clinicians and geneticists in order to optimize diagnostic flow and care of X-linked hypophosphatemia (XLH).

Methods: A panel of four geneticists and four clinicians from Italian reference centers for the diagnosis and management of XLH met virtually, first to highlight the critical issues in patient care and then to identify and share proposals to improve the diagnostic and care path of XLH.

Results: Critical issues emerged regarding the transfer of adequate clinical information from clinicians to geneticists, standardization and clarity of genetic reporting, and adequate interactions between clinicians and geneticists during patients’ follow-up. The necessary requirements for an appropriate request for evaluation of genetic variants and the need for a clear and clinically useful genetic report were agreed upon. Specifically designed template forms to be adopted with appropriate adjustments were defined and are here proposed for both the clinician’s request and the geneticist’s report.

Conclusions: The expert group strongly believes that collaboration between clinicians and geneticists should be encouraged in XLH, not only in the diagnostic phase but also during a patient’s follow-up, in order to manage patients more comprehensively and effectively.


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How to Cite

Agolini, E., Chimenz, R., Fintini, D., Guarnieri, V., Guazzarotti, L., Mora, S., Salviati, L., & Weber, G. (2021). Improving the diagnosis of X-linked hypophosphatemia: recommendations to optimize diagnostic flow and clinician/geneticist cooperation in the Italian clinical practice. AboutOpen, 8(1), 29–33.



Original research articles


Received 2021-01-22
Accepted 2021-03-24
Published 2021-04-19