Literature DB >> 22562700

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

Annalisa Sechi1, Laura Deroma, Annunziata Lapolla, Sabrina Paci, Daniela Melis, Alberto Burlina, Francesca Carubbi, Miriam Rigoldi, Maja Di Rocco.   

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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Year:  2012        PMID: 22562700     DOI: 10.1007/s10545-012-9490-1

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


  22 in total

1.  Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I).

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2.  Management of hepatocellular adenoma during pregnancy.

Authors:  Johanna E Noels; Susanna M van Aalten; Dirk J van der Windt; Niels F M Kok; Rob A de Man; Turkan Terkivatan; Jan N M Ijzermans
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3.  Pregnancy in glycogen storage disease type Ib: gestational care and report of first successful deliveries.

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Review 4.  Contraception and pregnancy in women affected by glycogen storage diseases.

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Journal:  Eur J Pediatr       Date:  2002-09-04       Impact factor: 3.183

5.  Type I glycogen storage disease: favourable outcome on a strict management regimen avoiding increased lactate production during childhood and adolescence.

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Review 5.  Impact of pregnancy on inborn errors of metabolism.

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Review 6.  Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.

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8.  Two successful pregnancies and first use of empagliflozin during pregnancy in glycogen storage disease type Ib.

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Review 9.  Tophaceous gout in a female premenopausal patient with an unexpected diagnosis of glycogen storage disease type Ia: a case report and literature review.

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  9 in total

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