Candela Egidio, Montanari Giulia, Di Blasi Elisabetta, Baronio Federico, Cassio Alessandra, Ortolano Rita
Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, 40138, Italy.
Department of Medical and Surgical Sciences, Alma Mater Studiorum, University of Bologna, Bologna, 40126, Italy.
J Endocrinol Invest. 2025 Jan 16. doi: 10.1007/s40618-024-02527-8.
Galactosemia is a rare inborn error of galactose metabolism. There are several forms, the most severe being classic galactosemia (CG), which begins in the first few days of life. Nowadays, it is possible to screen CG at birth, averting acute decompensation or death through diet. Although early dietary interventions help manage acute symptoms, long-term complications still occur, particularly primary ovarian insufficiency (POI) in female patients. This systematic review aims to synthesize existing literature on the relationship between galactosemia and POI, exploring the underlying mechanisms of pathophysiology, hormonal balance, metabolic control, fertility, and management.
We performed a systematic review according to the Preferred Reporting Items for Systematic Reviews and Meta-analyses and PROSPERO. We queried the SCOPUS and PubMed databases using individual keywords and MeSH terms.
Despite various proposed mechanisms, such as FSH dysfunction and the accumulation of galactose-1-phosphate, the exact cause of POI remains unclear, with studies showing variable correlations between genotype, galactose levels, and ovarian function. Monitoring AMH in prepubertal galactosemia patients may predict POI. Early estrogen replacement therapy, calcium supplementation, and strategies to improve galactosylation should be considered to enhance bone mineralization, given the impact of hypogonadism and low calcium intake on bone density in these patients. The course of POI in women with CG is unpredictable, with recent studies showing that nearly 30% of those attempting to conceive succeeded within a year, a rate that increases to almost 50% after two years.
Despite advancements in understanding and managing CG, POI remains a significant clinical challenge, necessitating ongoing research and a multidisciplinary approach to enhance the long-term health of affected individuals.
半乳糖血症是一种罕见的先天性半乳糖代谢紊乱疾病。它有几种类型，最严重的是经典型半乳糖血症（CG），在出生后的头几天就会发病。如今，出生时就可以筛查CG，通过饮食避免急性失代偿或死亡。虽然早期饮食干预有助于控制急性症状，但长期并发症仍然会发生，尤其是女性患者中的原发性卵巢功能不全（POI）。本系统评价旨在综合现有关于半乳糖血症与POI之间关系的文献，探讨病理生理学、激素平衡、代谢控制、生育能力及管理的潜在机制。
我们根据系统评价和Meta分析的首选报告项目以及国际前瞻性系统评价注册库进行了系统评价。我们使用单个关键词和医学主题词检索了Scopus和PubMed数据库。
尽管提出了各种机制，如促卵泡激素（FSH）功能障碍和1-磷酸半乳糖的积累，但POI的确切病因仍不清楚，研究表明基因型、半乳糖水平和卵巢功能之间的相关性各不相同。在青春期前的半乳糖血症患者中监测抗苗勒管激素（AMH）可能预测POI。鉴于性腺功能减退和低钙摄入对这些患者骨密度的影响，应考虑早期雌激素替代疗法、补钙以及改善半乳糖基化的策略，以增强骨矿化。CG女性患者的POI病程不可预测，最近的研究表明，近30%试图怀孕的患者在一年内成功受孕，两年后这一比例增至近50%。
尽管在理解和管理CG方面取得了进展，但POI仍然是一项重大的临床挑战，需要持续研究和多学科方法来提高受影响个体的长期健康水平。
