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Review
. 2011 Apr;34(2):357-66.
doi: 10.1007/s10545-010-9221-4. Epub 2010 Oct 27.

Ovarian function in girls and women with GALT-deficiency galactosemia

Judith L Fridovich-Keil  1 , Cynthia S Gubbels, Jessica B Spencer, Rebecca D Sanders, Jolande A Land, Estela Rubio-Gozalbo
Affiliations
Review

Ovarian function in girls and women with GALT-deficiency galactosemia

Judith L Fridovich-Keil et al. J Inherit Metab Dis. 2011 Apr.

Abstract

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.

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