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Ovarian function in girls and women with GALT-deficiency galactosemia.

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.

SUBMITTER: Fridovich-Keil JL

PROVIDER: S-EPMC3063539 | biostudies-literature | 2011 Apr

REPOSITORIES: biostudies-literature

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Ovarian function in girls and women with GALT-deficiency galactosemia.

Fridovich-Keil Judith L JL Gubbels Cynthia S CS Spencer Jessica B JB Sanders Rebecca D RD Land Jolande A JA Rubio-Gozalbo Estela E

Journal of inherited metabolic disease 20101027 2

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 ...[more]

PMID: 20978943

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