Ovarian function in girls and women with GALT-deficiency galactosemia
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 w...
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Published in | Journal of inherited metabolic disease Vol. 34; no. 2; pp. 357 - 366 |
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Main Authors | , , , , , |
Format | Journal Article |
Language | English |
Published |
Dordrecht
Springer Netherlands
01.04.2011
Blackwell Publishing Ltd |
Subjects | |
Online Access | Get full text |
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Summary: | 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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Bibliography: | Communicated by: Gerard T. Berry Competing interest: None declared. ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-3 content type line 23 ObjectType-Review-1 |
ISSN: | 0141-8955 1573-2665 |
DOI: | 10.1007/s10545-010-9221-4 |