Maria Evangelia Koloutsou, Maria P Yavropoulou, Konstantinos Makrilakis
{"title":"依帕列净治疗1b型糖原蓄积性疾病患者卵巢功能不全和受孕的自然恢复","authors":"Maria Evangelia Koloutsou, Maria P Yavropoulou, Konstantinos Makrilakis","doi":"10.1007/s42000-025-00672-0","DOIUrl":null,"url":null,"abstract":"<p><p>Glycogen storage disease type 1b (GSD-1b) is a rare genetic disorder characterized by deficiencies in glucose metabolism, leading to severe hypoglycemia, neutropenia, inflammatory bowel disease, and other metabolic abnormalities. We report the case of a 32-year-old woman with genetically confirmed GSD-1b who experienced premature ovarian failure and spontaneous restoration of menstrual cycle with subsequent conception and pregnancy after 3 years of treatment with the sodium-glucose-co-transporter-2-inhibitor (SGLT2i) empagliflozin. Recent studies have highlighted the efficacy of empagliflozin in managing neutropenia and reducing infections in GSD-1b, but it has also been linked to pleiotropic effects in the ovaries. Although our case cannot establish causal relationship, empagliflozin, beyond managing neutropenia, may have a positive effect on ovarian function and fertility in women with GSD-1b. Further research is required to investigate the molecular mechanisms by which empagliflozin may affect gonadal function and to evaluate its safety during pregnancy.</p>","PeriodicalId":520640,"journal":{"name":"Hormones (Athens, Greece)","volume":" ","pages":""},"PeriodicalIF":2.5000,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Spontaneous restoration of premature ovarian insufficiency and conception in a patient with glycogen storage disease type 1b managed with empagliflozin.\",\"authors\":\"Maria Evangelia Koloutsou, Maria P Yavropoulou, Konstantinos Makrilakis\",\"doi\":\"10.1007/s42000-025-00672-0\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Glycogen storage disease type 1b (GSD-1b) is a rare genetic disorder characterized by deficiencies in glucose metabolism, leading to severe hypoglycemia, neutropenia, inflammatory bowel disease, and other metabolic abnormalities. We report the case of a 32-year-old woman with genetically confirmed GSD-1b who experienced premature ovarian failure and spontaneous restoration of menstrual cycle with subsequent conception and pregnancy after 3 years of treatment with the sodium-glucose-co-transporter-2-inhibitor (SGLT2i) empagliflozin. Recent studies have highlighted the efficacy of empagliflozin in managing neutropenia and reducing infections in GSD-1b, but it has also been linked to pleiotropic effects in the ovaries. Although our case cannot establish causal relationship, empagliflozin, beyond managing neutropenia, may have a positive effect on ovarian function and fertility in women with GSD-1b. Further research is required to investigate the molecular mechanisms by which empagliflozin may affect gonadal function and to evaluate its safety during pregnancy.</p>\",\"PeriodicalId\":520640,\"journal\":{\"name\":\"Hormones (Athens, Greece)\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":2.5000,\"publicationDate\":\"2025-05-22\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Hormones (Athens, Greece)\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1007/s42000-025-00672-0\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Hormones (Athens, Greece)","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s42000-025-00672-0","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Spontaneous restoration of premature ovarian insufficiency and conception in a patient with glycogen storage disease type 1b managed with empagliflozin.
Glycogen storage disease type 1b (GSD-1b) is a rare genetic disorder characterized by deficiencies in glucose metabolism, leading to severe hypoglycemia, neutropenia, inflammatory bowel disease, and other metabolic abnormalities. We report the case of a 32-year-old woman with genetically confirmed GSD-1b who experienced premature ovarian failure and spontaneous restoration of menstrual cycle with subsequent conception and pregnancy after 3 years of treatment with the sodium-glucose-co-transporter-2-inhibitor (SGLT2i) empagliflozin. Recent studies have highlighted the efficacy of empagliflozin in managing neutropenia and reducing infections in GSD-1b, but it has also been linked to pleiotropic effects in the ovaries. Although our case cannot establish causal relationship, empagliflozin, beyond managing neutropenia, may have a positive effect on ovarian function and fertility in women with GSD-1b. Further research is required to investigate the molecular mechanisms by which empagliflozin may affect gonadal function and to evaluate its safety during pregnancy.