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Growth in height and body proportion from birth to adulthood in hereditary hypophosphatemic rickets: a retrospective cohort study

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Abstract

Purpose

Patients with hereditary hypophosphatemic rickets are short and disproportionate and very little information is available on segmental growth, but the body disproportion at adulthood leads us to think that the growth velocity of legs is slower.

Methods

A total of 96 children were included and molecular testing was carried out in 42. Children who reached adult height were classified into two groups according to their compliance to conventional treatment (phosphate supplement and calcitriol). Individual growth records of height and sitting height/height were plotted using Argentine reference data in 96 children and growth curves were estimated by fitting Preece-Baines Model 1 in 19 of the children.

Results

Molecular testing revealed sequence deleterious alterations or large deletions in 36/42 patients. During childhood, 76% of children grew below − 1.88 standard deviation score (SDS) and 97% had body disproportion. During adolescence, the mean peak height velocity for the good and poor compliance to treatment groups was 7.8 (0.6) and 5.4 (0.4) cm/year in boys and 7.0 (0.7) and 5.2 (0.8) cm/year in girls, respectively. At adulthood, the median sitting height/height ratio was 2.32 and 6.21 SDS for the good and poor compliance to treatment groups, respectively. The mean pubertal growth spurt of the trunk was –0.8 (1.4) SDS, with a short pubertal growth spurt of − 1.8 (0.4) SDS for limbs in the good compliance group. Median adult height in 13/29 males and 30/67 females was –4.56 and –3.16 SDS, respectively.

Conclusion

For all patients the growth spurt was slower, secondary to a short growth spurt of limbs, reaching a short adult height with body disproportion that was more prominent in the poor compliance group.

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Data availability statement

The datasets generated and analyzed during the current study are available from the corresponding author on reasonable request.

Code availability

KaleidaGraph 4.5.3 for Microsoft Windows. Copyright by Sinergy software. Serial no. 9009089.

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Acknowledgements

We thank Ronald Hauspie (deceased), who taught and trained us in mathematical models to analyze longitudinal growth data, and also thank the patients and their families.

Funding

The authors did not receive support from any organization for the submitted work.

Author information

Authors and Affiliations

  1. Growth and Development, Hospital Garrahan, Combate de los Pozos 1881 (1245), Buenos Aires, Argentina

    M. del Pino, M. A. Arenas & V. Fano

  2. Endocrinology, Hospital Garrahan, Buenos Aires, Argentina

    G. L. Viterbo & A. Belgorosky

  3. Endocrinology Molecular Laboratory, Hospital Garrahan, Buenos Aires, Argentina

    N. Perez Garrido, P. Ramirez & R. Marino

  4. CONICET, Hospital Garrahan, Buenos Aires, Argentina

    A. Belgorosky

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  1. M. del Pino
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Contributions

All authors made substantial contributions to the study conception and design. Material preparation, data collection and analysis was performed by MdP, GLV and MAA. The first draft of the manuscript was written by MdP and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

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Correspondence to M. del Pino.

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On behalf of all authors, the corresponding author states that there is no conflict of interest.

Research involving human participants and/or animals

This was a retrospective cohort study conducted in conformity with the World Medical Association and the Declaration of Helsinki for medical research involving human subjects. The study protocol was approved by the Research Review Committee and Ethics Review Committee from Garrahan Pediatric Hospital.

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del Pino, M., Viterbo, G.L., Arenas, M.A. et al. Growth in height and body proportion from birth to adulthood in hereditary hypophosphatemic rickets: a retrospective cohort study. J Endocrinol Invest 45, 1349–1358 (2022). https://doi.org/10.1007/s40618-022-01768-9

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