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01.01.2013 | Original Article

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

verfasst von: Annalisa Sechi, Laura Deroma, Annunziata Lapolla, Sabrina Paci, Daniela Melis, Alberto Burlina, Francesca Carubbi, Miriam Rigoldi, Maja Di Rocco

Erschienen in: Journal of Inherited Metabolic Disease | Ausgabe 1/2013

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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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Titel: Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study
verfasst von: Annalisa Sechi
Laura Deroma
Annunziata Lapolla
Sabrina Paci
Daniela Melis
Alberto Burlina
Francesca Carubbi
Miriam Rigoldi
Maja Di Rocco
Publikationsdatum: 01.01.2013
Verlag: Springer Netherlands
Erschienen in: Journal of Inherited Metabolic Disease / Ausgabe 1/2013
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-012-9490-1

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Abstract

Background

Patients and methods

Results

Conclusion

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