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Adult height improved over decades in patients with X-linked hypophosphatemia: a cohort study
Emese Boros1, Diana-Alexandra Ertl2,3, Jugurtha Berkenou2,3
1Pediatric Endocrinology Unit, Hôpital Universitaire de Bruxelles (HUB), Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Université Libre de Bruxelles, Brussels 1020, Belgium.
European Journal of Endocrinology
|October 13, 2023
Summary
Final height in X-linked hypophosphatemia (XLH) patients has significantly increased across generations in France. Despite improvements, men with XLH remain shorter than women, indicating a more severe disease phenotype.
Area of Science:
- Endocrinology
- Genetics
- Pediatrics
Background:
- X-linked hypophosphatemia (XLH) is a rare genetic disorder characterized by impaired renal phosphate reabsorption, leading to rickets and hypophosphatemia.
- Limited data exist on the natural history of final height (FH) in XLH patients, particularly regarding trends over time.
Purpose of the Study:
- To analyze final height (FH) and its evolution in French X-linked hypophosphatemia (XLH) patients over recent decades.
- To establish baseline data on FH in XLH for future treatment efficacy assessments.
Main Methods:
- A retrospective observational study was conducted on a large cohort of French XLH patients with recorded FH measurements.
- Patients were stratified into three birth year groups (1950-1974, 1975-2000, 2001-2006) to analyze longitudinal changes in FH.
Main Results:
- A total of 398 XLH patients were analyzed, with mean FH standard deviation scores (SDS) showing a significant increase across the three generations (P < .001).
- Mean FH SDS improved from -2.31 in the earliest group to -1.34 in the most recent group.
- While both sexes showed height improvement, men with XLH consistently had lower FH SDS (-2.08) compared to women (-1.70) (P = .002).
Conclusions:
- Final height in French XLH patients has significantly increased over the past decades.
- Despite improvements, men with XLH continue to exhibit shorter stature, suggesting a more severe disease phenotype.
- While current trends are encouraging, further interventions are needed as most XLH patients remain shorter than average.
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