Response to growth hormone treatment in Prader–Willi syndrome: Auxological criteria versus genetic diagnosis

Authors

  • Elly Scheermeyer,

    Corresponding author
    1. School of Medicine, The University of Queensland, Brisbane, Australia
    2. Faculty of Health Sciences and Medicine, Bond University, Gold Coast, Australia
    • Correspondence: Dr Elly Scheermeyer, School of Medicine, Queensland Children's Medical Research Institute, The University of Queensland, Herston Road, Herston, Brisbane, QLD 4006, Australia. Fax: +61 3346 4684; email: e.scheermeyer@uq.edu.au

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  • Ian Hughes,

    1. Mater Medical Research Institute, Brisbane, Australia
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  • Mark Harris,

    1. Department of Diabetes and Endocrinology, Mater Children's Hospital, Brisbane, Queensland, Australia
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  • Geoff Ambler,

    1. Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead, Sydney, Australia
    2. Discipline of Paediatrics and Child Health, The University of Sydney, Sydney, Australia
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  • Patricia Crock,

    1. Paediatric Endocrinology and Diabetes, John Hunter Children's Hospital, Newcastle, New South Wales, Australia
    2. School of Medicine and Public Health, University of Newcastle, Newcastle, New South Wales, Australia
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  • Charles F Verge,

    1. Department of Endocrinology, Sydney Children's Hospital (Randwick), Sydney, Australia
    2. School of Women's and Children's Health, University of New South Wales, Sydney, Australia
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  • Maria E Craig,

    1. Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead, Sydney, Australia
    2. Discipline of Paediatrics and Child Health, The University of Sydney, Sydney, Australia
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  • Phil Bergman,

    1. Department of Paediatric Diabetes and Endocrinology, Monash Medical Centre, Melbourne, Victoria, Australia
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  • George Werther,

    1. Department of Endocrinology and Diabetes and Centre for Hormone Research, Royal Children's Hospital, Melbourne, Victoria, Australia
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  • Mieke van Driel,

    1. School of Medicine, The University of Queensland, Brisbane, Australia
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  • Peter SW Davies,

    1. School of Medicine, The University of Queensland, Brisbane, Australia
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  • Catherine SY Choong

    1. Department of Endocrinology and Diabetes, Princess Margaret Hospital, Perth, Western Australia, Australia
    2. School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia
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  • Conflict of interest: None declared.

Abstract

Aim

The Australian Prader-Willi Syndrome (PWS) database was established to monitor the efficacy and safety of growth hormone (GH) treatment in PWS. This study aims to compare response to GH based on eligibility criteria.

Methods

Comparative study: 72 children received GH on the basis of short stature or evidence of GH deficiency (pre-2009: PWS-SS) and 94 on a genetic diagnosis (post-2009: PWS-Dx). We report on mandatory patient data for GH prescription: median and standard deviation score (SDS) for height and body mass index (BMI), waist/height ratio, bone age/chronological age ratio and adverse events. Comparisons were made using non-parametric tests.

Results

At baseline, the PWS-SS cohort was shorter (height SDS: –2.6 vs. –1.1, P < 0.001), had a lower BMI (0.6 vs. 1.5 SDS, P < 0.05) and greater bone age delay (bone age/chronological age: 0.7 vs. 0.9, P < 0.05) than the PWS-Dx cohort. PWS-SS parents were shorter (mid-parental height SDS: −0.13 vs. 0.28, P < 0.005). Mean change in height over 2 years was 0.9 SDS and in BMI using PWS reference standards –0.3 SDSPWS (n = 106) (year 2, height SDS: PWS-SS = –1.7, PWS-Dx = 0.1; BMI SDSPWS: PWS-SS = –1.0, PWS-Dx = –0.6). The waist/height ratio reduced (PWS-Dx: 0.60 vs. 0.56, P < 0.05) and bone age delay was unchanged over this period. No serious adverse events were reported.

Conclusions

The PWS-SS cohort represents a subgroup of the wider PWS-Dx population; however both cohorts improved height SDS with normalisation of height in the PWS-Dx cohort and lowering of BMI relative to PWS standards supporting the efficacy of treatment under the current Australian GH programme.

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