Phenotype Presentation of Hypophosphatemic Rickets in Adults Signe S. Beck-Nielsen • Klaus Brusgaard • Lars M. Rasmussen • Kim Brixen • Bendt Brock-Jacobsen • Mette R. Poulsen • Peter Vestergaard • Stuart H. Ralston • Omar M. E. Albagha • Sven Poulsen • Dorte Haubek • Hans Gjørup • Hanne Hintze • Mette G. Andersen • Lene Heickendorff • Jacob Hjelmborg • Jeppe Gram Received: 8 December 2009 / Accepted: 25 April 2010 Ó Springer Science+Business Media, LLC 2010 Abstract Hypophosphatemic rickets (HR) is a group of rare disorders caused by excessive renal phosphate wast- ing. The purpose of this cross-sectional study of 38 HR patients was to characterize the phenotype of adult HR patients. Moreover, skeletal and endodontic severity scores were defined to assess possible gender differences in dis- ease severity in patients with genetically verified X-linked HR. Compared to normal reference data, i.e., z = 0, HR patients had significantly lower final height, with a mean difference in z-score of -1.9 (95% CI -2.4 to -1.4, P \ 0.001). Compared to paired z-scores of final height, z-scores of leg length were significantly lower and those of sitting height were significantly higher (P \ 0.001), result- ing in disproportion as indicated by the significantly elevated sitting height ratio, mean difference in z-score of 2.6 (95% CI 2.1–3.1, P \ 0.001). Z-scores of head circumference The authors have stated that they have no conflict of interest. S. S. Beck-Nielsen (&)  B. Brock-Jacobsen Department of Pediatrics, H. C. Andersen Children’s Hospital, Odense University Hospital, Sdr. Boulevard 29, 5000 Odense, Denmark e-mail: sbeck-nielsen@dadlnet.dk S. S. Beck-Nielsen  L. M. Rasmussen  K. Brixen  B. Brock-Jacobsen  M. R. Poulsen Institute of Clinical Research, University of Southern Denmark, 5000 Odense, Denmark K. Brusgaard  L. M. Rasmussen Department of Biochemistry, Pharmacology and Genetics, Odense University Hospital, 5000 Odense, Denmark K. Brixen Department of Endocrinology, Odense University Hospital, 5000 Odense, Denmark M. R. Poulsen Department of Radiology, Odense University Hospital, 5000 Odense, Denmark P. Vestergaard Department of Endocrinology, Aarhus University Hospital, 8000 Aarhus, Denmark S. H. Ralston  O. M. E. Albagha Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, United Kingdom S. Poulsen  D. Haubek  H. Gjørup  M. G. Andersen Department of Pediatric Dentistry, School of Dentistry, University of Aarhus, 8000 Aarhus, Denmark H. Gjørup Center of Oral Health in Rare Conditions, Aarhus University Hospital, 8000 Aarhus, Denmark H. Hintze Department of Oral Radiology, School of Dentistry, University of Aarhus, 8000 Aarhus, Denmark L. Heickendorff Department of Clinical Biochemistry, Aarhus University Hospital, 8000 Aarhus, Denmark J. Hjelmborg Department of Biostatistics, University of Southern Denmark, 5000 Odense, Denmark J. Gram Department of Endocrinology, Hospital of Southwest Denmark, 6700 Esbjerg, Denmark 123 Calcif Tissue Int DOI 10.1007/s00223-010-9373-0