Ovarian function in girls and women with GALT-deficiency galactosemia

Judith L. Fridovich-Keil*, Cynthia S. Gubbels, Jessica B. Spencer, Rebecca D. Sanders, Jolande A. Land, Estela Rubio-Gozalbo

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Primary or premature ovarian insufficiency (POI) is the most common long-term complication experienced by girls and women with classic galactosemia; more than 80% and perhaps more than 90% are affected despite neonatal diagnosis and careful lifelong dietary restriction of galactose. In this review we explore the complexities of timing and detection of galactosemia-associated POI and discuss potential underlying mechanisms. Finally, we offer recommendations for follow-up care with current options for intervention.
Original languageEnglish
Pages (from-to)357-366
JournalJournal of Inherited Metabolic Disease
Issue number2
Publication statusPublished - Apr 2011

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