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Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study

  • Original Article
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Journal of Inherited Metabolic Disease

Abstract

Background

Life expectancy of patients with glycogen storage disease (GSD) type I has improved considerably, opening new problems correlated with adult age. In females polycystic ovaries (PCOs) has been described as frequently associated with the disease, however successful pregnancies have been reported. Whether or not GSD I is associated with impaired reproductive function is still unclear.

Patients and methods

Data about female patients with GSD Ia and Ib, who were 16 years or older, were obtained from clinical records and interviews.

Results

A total of 32 women with GSD I (25 GSD Ia, 7 GSD Ib), median age 26 years (range 16–55), were included. 9/32 patients had delayed menarche, 17/32 had irregular cycles, 8/22 had documented polycystic ovaries. Five successful spontaneous pregnancies in four patients with GSD Ia and two in a woman with GSD Ib were reported. The latter had development and enlargement of hepatic adenomas during pregnancies.

Conclusion

Despite the high prevalence of irregular menstruation cycles and polycystic ovaries, fertility seems not to be impaired in women with GSD I. During pregnancy monitoring for adenoma development is mandatory.

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Acknowledgments

The authors would like to thank Mrs Alison Cousins for helping in the manuscript preparation.

Author information

Authors and Affiliations

  1. Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy

    Annalisa Sechi & Laura Deroma

  2. Department of Medical and Surgical Sciences, University of Padua, Padua, Italy

    Annunziata Lapolla

  3. Department of Paediatrics, San Paolo Hospital, Milan, Italy

    Sabrina Paci

  4. Department of Paediatrics, Federico II University, Naples, Italy

    Daniela Melis

  5. Division of Inherited Metabolic Diseases, Department of Paediatrics, University Hospital, Padua, Italy

    Alberto Burlina

  6. Department of Medicine, Endocrinology, Metabolism and Geriatrics, University of Modena and Reggio Emilia, Modena, Italy

    Francesca Carubbi

  7. Metabolic Unit, San Gerardo Hospital, Monza, Italy

    Miriam Rigoldi

  8. II Division of Pediatrics, Giannina Gaslini Children’s Hospital, Genoa, Italy

    Maja Di Rocco

Authors
  1. Annalisa Sechi
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  2. Laura Deroma
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  3. Annunziata Lapolla
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  4. Sabrina Paci
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  5. Daniela Melis
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  6. Alberto Burlina
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  7. Francesca Carubbi
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  8. Miriam Rigoldi
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  9. Maja Di Rocco
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Corresponding author

Correspondence to Annalisa Sechi.

Additional information

Communicated by: John H. Walter

Competing interests: None declared.

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Sechi, A., Deroma, L., Lapolla, A. et al. Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study. J Inherit Metab Dis 36, 83–89 (2013). https://doi.org/10.1007/s10545-012-9490-1

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  • DOI: https://doi.org/10.1007/s10545-012-9490-1

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