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Stimulated GH levels during the transition phase in Prader–Willi syndrome

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Abstract

Purpose

Early institution of GH therapy in children with Prader–Willi syndrome (PWS) yields beneficial effects on their phenotype and is associated with a persistent improvement of body composition, both in the transition age and in adulthood. Reports from GH stimulation testing in PWS adults, however, suggest that GH deficiency (GHD) is not a universal feature of the syndrome, and the current Consensus Guidelines suggest to perform a reassessment of persistent GHD so as to continue GH therapy after reaching adult height. Few data about GH responsiveness to stimulation testing throughout the transitional period in PWS are available to date. Thus, we investigated the prevalence of GHD in a large cohort of patients with PWS during the transition phase.

Patients and methods

One hundred forty-one PWS patients, 72 females and 69 males, aged 15.4–24.9 years, were evaluated by dynamic testing with growth hormone‐releasing hormone (GHRH) plus arginine (GHRH + ARG). To define GHD, both BMI-dependent and BMI-independent diagnostic cut-off limits were considered.

Results

According to BMI‐dependent criteria, 10.7% of normal weight (NW), 18.5% of overweight and 22.1% of obese PWS maintained a status of GHD. Similar results were obtained by adopting a cut-off limit specific for the adult age (26.2%), as well as criteria for the transition phase in NW subjects (25%).

Conclusion

Our study shows that about 20% of patients with PWS fulfilled the criteria for GHD during the transitional age, suggesting the need of an integrated analysis of GH/IGF-I axis, in the context of the general clinical picture and other endocrine abnormalities, in all subjects after attainment of final stature.

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Data availability

The datasets generated during and/or analyzed during the current study are not publicly available but are available from the corresponding author on reasonable request.

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Acknowledgements

We are grateful to the patients with PWS and their families for their willingness to participate in this research. Our special thanks to the Italian Prader–Willi Syndrome Association for its collaboration.

Funding

This work was partially supported by Progetti di Ricerca Corrente, Istituto Auxologico Italiano, IRCCS, Milan, Italy (ref. no 01C629; acronym: PWStransGH).

Author information

Authors and Affiliations

  1. Division of Auxology, Istituto Auxologico Italiano, S. Giuseppe Hospital, Research Institute, Strada Cadorna 90, 28824, Piancavallo, Verbania, Italy

    G. Grugni & A. Sartorio

  2. Division of General Medicine, Istituto Auxologico Italiano, S. Giuseppe Hospital, Research Institute, Piancavallo, Verbania, Italy

    P. Marzullo

  3. Department of Translational Medicine, Università del Piemonte Orientale UPO, Novara, Italy

    P. Marzullo

  4. Metabolic Diseases, Clinical Genetics and Diabetology Unit, Giovanni XXIII Children’s Hospital, Bari, Italy

    M. Delvecchio

  5. Pediatric Unit, Department of Medical and Surgical Sciences of Mothers, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy

    L. Iughetti

  6. Department of Neurosciences, Santobono-Pausilipon Children’s Hospital, Naples, Italy

    M. R. Licenziati

  7. Department of Pediatrics, San Raffaele Hospital, Research Institute, Milan, Italy

    S. Osimani

  8. Department of Pediatric Endocrinology, Oasi Maria SS, Research Institute, Troina, Enna, Italy

    L. Ragusa

  9. Department of Pediatrics, University of Insubria, Varese, Italy

    A. Salvatoni

  10. Division of Metabolic Diseases, Istituto Auxologico Italiano, S. Giuseppe Hospital, Research Institute, Piancavallo, Verbania, Italy

    A. Sartorio

  11. Division of Pediatric Endocrinology, Meyer University Children’s Hospital, Florence, Italy

    S. Stagi

  12. Reference Center for Prader-Willi Syndrome, Bambino Gesù Children’s Hospital, Research Institute, Palidoro, Rome, Italy

    A. Crinò

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  1. G. Grugni
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Consortia

the Genetic Obesity Study Group of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED)

Contributions

GG designed the study. GG, MD, LI, SO, LR, AS, SS and AC recruited the patients. GG and PM analyzed the data and wrote the original draft of the manuscript. MD, LI, MRL, SO, LR, AS, AS, SS and AC discussed the results and contributed to additional versions of the manuscript. AS and PM performed writing—review and editing.

Corresponding author

Correspondence to G. Grugni.

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Conflict of interest

All authors have nothing to disclose.

Ethical approval

The protocol was run in accordance with the Declaration of Helsinki as revised in 2008. The study was approved by the Ethical Committee of the Istituto Auxologico Italiano (ref. no 01C629; acronym: PWStransGH).

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Written informed consent was obtained for all procedures from the parents or legal representatives, and from the patients when applicable.

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All authors have read and agreed to publish the manuscript.

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Grugni, G., Marzullo, P., Delvecchio, M. et al. Stimulated GH levels during the transition phase in Prader–Willi syndrome. J Endocrinol Invest 44, 1465–1474 (2021). https://doi.org/10.1007/s40618-020-01450-y

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