Anthropometric characteristics at birth and growth outcome in patients with X-linked hypophosphatemia treated with oral phosphate and active vitamin D

BACKGROUND: X-linked hypophosphatemia (XLH) is the most common form of inherited rickets, resulting in short stature despite treatment with oral phosphate and active vitamin D. Detailed data of anthropometric parameters at birth, during infancy, and on the influence of an affected parent on outcome are lacking. METHODS: In this prospective multicenter observational study, conducted from 1998 to 2023 in Germany, Austria, and Switzerland, body length, body weight, and head circumference were investigated in 198 children with XLH from birth until the age of 18 years, all being only on supplementation therapy. RESULTS: XLH newborns presented with disproportionate body shape characterized by decreased birth length relative to weight and head circumference with a 2.4-fold increased risk to be born small for gestational age (SGA). A positive family history for XLH was associated with lower anthropometric characteristics at birth. Body disproportion increased during 0-2 years old, resulting in significantly increased head circumference (+ 0.82 SD) and reduced body length (-2.00 SD) compared to healthy 2-year-old patients. Supplementation therapy failed to prevent progressive growth failure and reduced final height, regardless of whether treatment was started early due to an affected family member, which was associated with overall poor control of metabolic bone disease indicated by persistent hypophosphatemia and rising alkaline phosphatase z-score. CONCLUSIONS: XLH is associated with an increased risk for SGA and progressive disproportional body growth during infancy. Routine medical check-ups may soon use this unique growth pattern to identify children with XLH. Supplemental therapy fails to prevent progressive growth failure.

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Publication Details

Journal
Pediatric Nephrology
Published
2026-04-10
DOI
https://doi.org/10.1007/s00467-026-07271-0
Primary Topic
Parathyroid Disorders and Treatments
Type
article
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0.00

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article

Anthropometric characteristics at birth and growth outcome in patients with X-linked hypophosphatemia treated with oral phosphate and active vitamin D

Dorothée Schmidt, Sabine Heger, Norbert Jorch, Katrina Evers et al.
Pediatric Nephrology
Parathyroid Disorders and Treatments
article

Anthropometric characteristics at birth and growth outcome in patients with X-linked hypophosphatemia treated with oral phosphate and active vitamin D

Dorothée Schmidt, Sabine Heger, Norbert Jorch, Katrina Evers, Olaf Hiort, Norbert Albers, Ulrike John-Kroegel, Oliver Metzing, Marcus Weitz, Frauke Wilkening, Gunter Ŝimić-Schleicher, Ute Derichs, Mirko Rehberg, Martin Holder, Christof Land, Elmar Schmid, Clemens Freiberg, Kristina Moeller, Elke Wühl, Miroslav Živičnjak, Susann Empting, Mislav Stjepan Žebec, Inka Baus, Angela Huebner, Giuseppina Spartà, Martin Konrad, Hagen Staude, C. J. Partsch, Alina Verena Bohlen, Ludwig Patzer, Désirée Dunstheimer, Laura Celine Brieger, Stephan Przygodda, Anke Heitmeyer-Pyper, Markus Josef Kemper, Verena Wagner, Karina Grohmann-Held, Anne Juliane Ostendorf, Carmen Schroeder, Lena Lecher, On behalf of the German Society for Pediatric Nephrology (GPN), the German Society for Pediatric, Adolescent Endocrinology, Diabetology (DGPAED), Dominik Müller, Michaela Marx, Dirk Schnabel, Dieter Haffner, Karl Peter Schlingmann
article en

Abstract

BACKGROUND: X-linked hypophosphatemia (XLH) is the most common form of inherited rickets, resulting in short stature despite treatment with oral phosphate and active vitamin D. Detailed data of anthropometric parameters at birth, during infancy, and on the influence of an affected parent on outcome are lacking. METHODS: In this prospective multicenter observational study, conducted from 1998 to 2023 in Germany, Austria, and Switzerland, body length, body weight, and head circumference were investigated in 198 children with XLH from birth until the age of 18 years, all being only on supplementation therapy. RESULTS: XLH newborns presented with disproportionate body shape characterized by decreased birth length relative to weight and head circumference with a 2.4-fold increased risk to be born small for gestational age (SGA). A positive family history for XLH was associated with lower anthropometric characteristics at birth. Body disproportion increased during 0-2 years old, resulting in significantly increased head circumference (+ 0.82 SD) and reduced body length (-2.00 SD) compared to healthy 2-year-old patients. Supplementation therapy failed to prevent progressive growth failure and reduced final height, regardless of whether treatment was started early due to an affected family member, which was associated with overall poor control of metabolic bone disease indicated by persistent hypophosphatemia and rising alkaline phosphatase z-score. CONCLUSIONS: XLH is associated with an increased risk for SGA and progressive disproportional body growth during infancy. Routine medical check-ups may soon use this unique growth pattern to identify children with XLH. Supplemental therapy fails to prevent progressive growth failure.

Pediatric Nephrology
University of Cologne (DE), American Academy of Child and Adolescent Psychiatry (US), Johannes Gutenberg University Mainz (DE), Heidelberg University (DE), Universitätsmedizin Greifswald (DE), University Hospital Augsburg (DE), University Hospital Heidelberg (DE), Medizinische Hochschule Hannover (DE), Kinderkrankenhaus auf der Bult (DE), Institute for Anthropological Research (HR), Universitätsklinikum Erlangen (DE), Advanced Materials Enterprises (China) (CN), University Medical Center of the Johannes Gutenberg University Mainz (DE), Klinik Hirslanden (CH), Helios Hospital Schwerin (DE), University Hospital Münster (DE), Krankenhaus St. Elisabeth und St. Barbara (DE), Evangelisches Krankenhaus Bielefeld (DE), University Hospital Schleswig-Holstein (DE), Olgahospital (DE), Universitätsmedizin Göttingen (DE), University Children's Hospital Tübingen (DE), University Children's Hospital Zurich (CH), Jena University Hospital (DE), University Hospital Magdeburg (DE), Klinikum Bremen-Mitte (DE), Marienhospital Osnabrück (DE), University Hospital Cologne (DE), Endokrinologikum (DE), Asklepios (DE), Klinikum Stuttgart (DE), University Hospital Carl Gustav Carus (DE), University of Rostock (DE), Technische Universität Dresden (DE), Charité - Universitätsmedizin Berlin (DE), Heidelberg University (US), University of Lübeck (DE)
Pfizer, Kyowa Hakko Kirin
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Parathyroid Disorders and Treatments
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