Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy.
J Inherit Metab Dis. 2013 Jan;36(1):83-9. doi: 10.1007/s10545-012-9490-1. Epub 2012 May 5.
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.
Data about female patients with GSD Ia and Ib, who were 16 years or older, were obtained from clinical records and interviews.
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.
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.
糖原贮积病（GSD）I 型患者的预期寿命有了显著提高，这带来了与成年相关的新问题。在女性中，多囊卵巢（PCO）常与该疾病相关，但也有成功妊娠的报道。GSD I 是否与生殖功能受损有关仍不清楚。
从临床记录和访谈中获取了年龄在 16 岁及以上的 GSD Ia 和 GSD Ib 女性患者的数据。
共纳入 32 名 GSD I 女性患者（25 名 GSD Ia，7 名 GSD Ib），中位年龄 26 岁（范围 16-55）。9/32 名患者初潮延迟，17/32 名患者月经周期不规律，8/22 名患者经影像学证实存在多囊卵巢。4 名 GSD Ia 患者和 1 名 GSD Ib 患者共报告了 5 例成功的自发性妊娠。后者在妊娠期间出现了肝腺瘤的生长和增大。
尽管月经周期不规律和多囊卵巢的患病率较高，但 GSD I 女性的生育能力似乎并未受损。在妊娠期间必须监测腺瘤的生长情况。
