Short stature in pre-pubertal children with X-linked hypophosphatemia
Short stature is a characteristic of X-linked hypophosphatemia (XLH). We aim to explore the factors that influence the height of pre-pubertal children with XLH. Based on a randomized clinical trial of high/low doses of active vitamin D with neutral phosphate treatment for XLH children, we recruited...
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| Published in | Endocrine Connections Vol. 14; no. 6 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
England
Bioscientifica Ltd
01.06.2025
Bioscientifica |
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| Online Access | Get full text |
| ISSN | 2049-3614 2049-3614 |
| DOI | 10.1530/EC-24-0605 |
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| Abstract | Short stature is a characteristic of X-linked hypophosphatemia (XLH). We aim to explore the factors that influence the height of pre-pubertal children with XLH.
Based on a randomized clinical trial of high/low doses of active vitamin D with neutral phosphate treatment for XLH children, we recruited 124 pre-pubertal children with XLH, and 46 participants completed the 24-month follow-up. Participants were separated into the short stature (height Z score < -2) and non-short stature groups (height Z score ≥ -2). Height, medication history, biochemical parameters, the Thacher Rickets Severity Score (RSS), and bone age were evaluated.
At baseline, 50.8% of participants were short stature. The height Z score of males (-2.35 ± 1.18) was significantly lower than that of females (-1.86 ± 1.03), P = 0.014. The height Z score had negative correlations with age when enrolled, initial age of medication, and RSS (β: -0.327∼-0.251, P < 0.01), but had a positive correlation with calcium-phosphorus product (β: 0.213, P = 0.015). Compared to the non-short stature group, the proportion of delayed bone age was higher in the short stature group (10.0 vs 42.9%, P < 0.001). At the 24-month follow-up, the median height Z score increased from -1.91 to -1.74 (P = 0.002), whose improvement had no significant differences between groups of male/female, high/low doses of calcitriol, and non-truncating/truncating variants.
In pre-pubertal children with XLH, a higher height Z score has associations with females, early initiation of treatment, better bone mineralization, and milder rachitic lesions. Conventional therapy improves their heights, but the efficacy does not depend on sex, active vitamin D dosage, or variant type. |
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| AbstractList | Short stature is a characteristic of X-linked hypophosphatemia (XLH). We aim to explore the factors that influence the height of pre-pubertal children with XLH.OBJECTIVEShort stature is a characteristic of X-linked hypophosphatemia (XLH). We aim to explore the factors that influence the height of pre-pubertal children with XLH.Based on a randomized clinical trial of high/low doses of active vitamin D with neutral phosphate treatment for XLH children, we recruited 124 pre-pubertal children with XLH, and 46 participants completed the 24-month follow-up. Participants were separated into the short stature (height Z score<-2) and non-short stature groups (height Z score≥-2). Height, medication history, biochemical parameters, the Thacher rickets severity score (RSS), and bone age were evaluated.METHODSBased on a randomized clinical trial of high/low doses of active vitamin D with neutral phosphate treatment for XLH children, we recruited 124 pre-pubertal children with XLH, and 46 participants completed the 24-month follow-up. Participants were separated into the short stature (height Z score<-2) and non-short stature groups (height Z score≥-2). Height, medication history, biochemical parameters, the Thacher rickets severity score (RSS), and bone age were evaluated.At baseline, 50.8% of participants were short stature. The height Z score of males (-2.35±1.18) was significantly inferior to that of females (-1.86±1.03), p=0.014. The height Z score had negative correlations with age when enrolled, initial age of medication, and RSS (β:-0.327~-0.251, p<0.01), but had a positive correlation with calcium-phosphorus product (β:0.213, p=0.015). Compared to the non-short stature group, the proportion of delayed bone age was higher in the short stature group (10.0% vs. 42.9%, p<0.001). At 24-month follow-up, the median height Z score increased from -1.91 to -1.74 (p=0.002), whose improvement had no significant differences between groups of male/female, high/low doses of calcitriol, and non-truncating/truncating variants.RESULTSAt baseline, 50.8% of participants were short stature. The height Z score of males (-2.35±1.18) was significantly inferior to that of females (-1.86±1.03), p=0.014. The height Z score had negative correlations with age when enrolled, initial age of medication, and RSS (β:-0.327~-0.251, p<0.01), but had a positive correlation with calcium-phosphorus product (β:0.213, p=0.015). Compared to the non-short stature group, the proportion of delayed bone age was higher in the short stature group (10.0% vs. 42.9%, p<0.001). At 24-month follow-up, the median height Z score increased from -1.91 to -1.74 (p=0.002), whose improvement had no significant differences between groups of male/female, high/low doses of calcitriol, and non-truncating/truncating variants.In pre-pubertal children with XLH, a higher height Z score has associations with females, early initiation of treatment, better bone mineralization, and milder rachitic lesions. Conventional therapy improves their heights, but the efficacy does not depend on sex, active vitamin D dosage, or variant type.CONCLUSIONIn pre-pubertal children with XLH, a higher height Z score has associations with females, early initiation of treatment, better bone mineralization, and milder rachitic lesions. Conventional therapy improves their heights, but the efficacy does not depend on sex, active vitamin D dosage, or variant type. Objective: Short stature is a characteristic of X-linked hypophosphatemia (XLH). We aim to explore the factors that influence the height of pre-pubertal children with XLH. Methods: Based on a randomized clinical trial of high/low doses of active vitamin D with neutral phosphate treatment for XLH children, we recruited 124 pre-pubertal children with XLH, and 46 participants completed the 24-month follow-up. Participants were separated into the short stature (height Z score < −2) and non-short stature groups (height Z score ≥ −2). Height, medication history, biochemical parameters, the Thacher Rickets Severity Score (RSS), and bone age were evaluated. Results: At baseline, 50.8% of participants were short stature. The height Z score of males (−2.35 ± 1.18) was significantly lower than that of females (−1.86 ± 1.03), P = 0.014. The height Z score had negative correlations with age when enrolled, initial age of medication, and RSS (β: −0.327∼−0.251, P < 0.01), but had a positive correlation with calcium-phosphorus product (β: 0.213, P = 0.015). Compared to the non-short stature group, the proportion of delayed bone age was higher in the short stature group (10.0 vs 42.9%, P < 0.001). At the 24-month follow-up, the median height Z score increased from −1.91 to −1.74 (P = 0.002), whose improvement had no significant differences between groups of male/female, high/low doses of calcitriol, and non-truncating/truncating variants. Conclusion: In pre-pubertal children with XLH, a higher height Z score has associations with females, early initiation of treatment, better bone mineralization, and milder rachitic lesions. Conventional therapy improves their heights, but the efficacy does not depend on sex, active vitamin D dosage, or variant type. Short stature is a characteristic of X-linked hypophosphatemia (XLH). We aim to explore the factors that influence the height of pre-pubertal children with XLH. Based on a randomized clinical trial of high/low doses of active vitamin D with neutral phosphate treatment for XLH children, we recruited 124 pre-pubertal children with XLH, and 46 participants completed the 24-month follow-up. Participants were separated into the short stature (height Z score < -2) and non-short stature groups (height Z score ≥ -2). Height, medication history, biochemical parameters, the Thacher Rickets Severity Score (RSS), and bone age were evaluated. At baseline, 50.8% of participants were short stature. The height Z score of males (-2.35 ± 1.18) was significantly lower than that of females (-1.86 ± 1.03), P = 0.014. The height Z score had negative correlations with age when enrolled, initial age of medication, and RSS (β: -0.327∼-0.251, P < 0.01), but had a positive correlation with calcium-phosphorus product (β: 0.213, P = 0.015). Compared to the non-short stature group, the proportion of delayed bone age was higher in the short stature group (10.0 vs 42.9%, P < 0.001). At the 24-month follow-up, the median height Z score increased from -1.91 to -1.74 (P = 0.002), whose improvement had no significant differences between groups of male/female, high/low doses of calcitriol, and non-truncating/truncating variants. In pre-pubertal children with XLH, a higher height Z score has associations with females, early initiation of treatment, better bone mineralization, and milder rachitic lesions. Conventional therapy improves their heights, but the efficacy does not depend on sex, active vitamin D dosage, or variant type. |
| Author | Wu, Yushuo Qi, Wenting Li, Mei Xing, Xiaoping Zhao, Jiajun Zhang, Cong Liu, Wei Wang, Ou Xia, Weibo Chi, Yue Ma, Xiaosen Jiajue, Ruizhi Liang, Hanting Jin, Chenxi Pang, Qianqian Jiang, Yan |
| AuthorAffiliation | 3 Department of Endocrinology and Metabolism, Beijing Tsinghua Changgung Hospital, Tsinghua University , Beijing , China 4 Department of Endocrinology, China-Japan Friendship Hospital , Beijing , China 1 Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College , Beijing , China 2 Department of Endocrinology, The Second Affiliated Hospital, Zhejiang University School of Medicine , Hangzhou , Zhejiang , China 5 Department of Endocrinology, Shandong Provincial Hospital Affiliated to Shandong First Medical University; Shandong Provincial Key Laboratory of Endocrinology and Lipid Metabolism; Shandong Institute of Endocrine & Metabolic Disease , Jinan , Shandong , China |
| AuthorAffiliation_xml | – name: 2 Department of Endocrinology, The Second Affiliated Hospital, Zhejiang University School of Medicine , Hangzhou , Zhejiang , China – name: 4 Department of Endocrinology, China-Japan Friendship Hospital , Beijing , China – name: 5 Department of Endocrinology, Shandong Provincial Hospital Affiliated to Shandong First Medical University; Shandong Provincial Key Laboratory of Endocrinology and Lipid Metabolism; Shandong Institute of Endocrine & Metabolic Disease , Jinan , Shandong , China – name: 1 Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College , Beijing , China – name: 3 Department of Endocrinology and Metabolism, Beijing Tsinghua Changgung Hospital, Tsinghua University , Beijing , China |
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Jiang, Yan organization: Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China – sequence: 12 givenname: Ou surname: Wang fullname: Wang, Ou organization: Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China – sequence: 13 givenname: Mei surname: Li fullname: Li, Mei organization: Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China – sequence: 14 givenname: Xiaoping surname: Xing fullname: Xing, Xiaoping organization: Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China – sequence: 15 givenname: Jiajun surname: Zhao fullname: Zhao, Jiajun organization: Department of Endocrinology, Shandong Provincial Hospital Affiliated to Shandong First Medical University; Shandong Provincial Key Laboratory of Endocrinology and Lipid Metabolism; Shandong Institute of Endocrine & Metabolic Disease, Jinan, Shandong, China – sequence: 16 givenname: Weibo surname: Xia fullname: Xia, Weibo organization: Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China |
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| Keywords | short stature rickets severity score X-linked hypophosphatemia PHEX height |
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| Snippet | Short stature is a characteristic of X-linked hypophosphatemia (XLH). We aim to explore the factors that influence the height of pre-pubertal children with... Objective: Short stature is a characteristic of X-linked hypophosphatemia (XLH). We aim to explore the factors that influence the height of pre-pubertal... |
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| SubjectTerms | height phex rickets severity score short stature x-linked hypophosphatemia |
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| Title | Short stature in pre-pubertal children with X-linked hypophosphatemia |
| URI | https://www.ncbi.nlm.nih.gov/pubmed/40331725 https://www.proquest.com/docview/3201118904 https://pubmed.ncbi.nlm.nih.gov/PMC12131737 https://doaj.org/article/9194d28509654ef5a2973c747c70de42 |
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