Pediatric Endocrinology Unit, Hôpital Universitaire de Bruxelles (HUB), Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Université Libre de Bruxelles, Brussels 1020, Belgium.
AP-HP, Department of Endocrinology and Diabetes for Children, Department of Adolescent Medicine, Bicetre Paris-Saclay University Hospital, 78 Rue du General Leclerc, Le Kremlin-Bicêtre 94270, France.
Eur J Endocrinol. 2023 Oct 17;189(4):469-475. doi: 10.1093/ejendo/lvad144.
The aim of this study is to analyze height after cessation of growth (final height [FH]) and its evolution over the last decades in X-linked hypophosphatemia (XLH) patients in France, as the data on natural history of FH in XLH are lacking.
We performed a retrospective observational study in a large cohort of French XLH patients with available data on FH measurements.
We divided patients into 3 groups according to their birth year: group 1 born between 1950 and 1974, group 2 born between 1975 and 2000, and group 3 born between 2001 and 2006, respectively, and compared their FHs.
A total of 398 patients were included. Mean FHs were the following: for group 1, -2.31 ± 1.11 standard deviation score (SDS) (n = 127), 156.3 ± 9.7 cm in men and 148.6 ± 6.5 cm in women; for group 2, -1.63 ± 1.13 SDS (n = 193), 161.6 ± 8.5 cm in men and 153.1 ± 7.2 cm in women; and for group 3, -1.34 ± 0.87 SDS (n = 78), 165.1 ± 5.5 cm in men and 154.7 ± 6 cm in women. We report a significant increase in mean FH SDS over 3 generations of patients, for both men and women (P < .001). Final height SDS in male (-2.08 ± 1.18) was lower than in female (-1.70 ± 1.12) (P = .002).
The FH of XLH patients in France increased significantly over the last decades. Even though men's FHs improved more than women's, men with XLH remain shorter reflecting a more severe disease phenotype. While the results are promising, most patients with XLH remain short leaving room for improvement.
本研究旨在分析法国 X 连锁低磷血症（XLH）患者生长停止后的身高（最终身高[FH]）及其在过去几十年中的变化，因为目前缺乏 XLH 患者 FH 的自然史数据。
我们对一组有 FH 测量数据的法国 XLH 患者进行了回顾性观察性研究。
我们根据出生年份将患者分为 3 组：第 1 组出生于 1950 年至 1974 年，第 2 组出生于 1975 年至 2000 年，第 3 组出生于 2001 年至 2006 年，比较他们的 FH。
共纳入 398 例患者。各组的平均 FH 如下：第 1 组，-2.31±1.11 标准差（SDS）（n=127），男性 161.6±8.5cm，女性 148.6±6.5cm；第 2 组，-1.63±1.13 SDS（n=193），男性 165.1±5.5cm，女性 154.7±6cm；第 3 组，-1.34±0.87 SDS（n=78），男性 165.1±5.5cm，女性 154.7±6cm。我们报告说，三代患者的平均 FH SDS 均显著增加，男性和女性均如此（P<.001）。男性（-2.08±1.18）的 FH SDS 低于女性（-1.70±1.12）（P=.002）。
法国 XLH 患者的 FH 在过去几十年中显著增加。尽管男性的 FH 改善程度高于女性，但 XLH 男性仍较矮，反映出疾病表型更严重。尽管结果令人鼓舞，但大多数 XLH 患者仍身材矮小，仍有改善空间。
