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 inJournal of inherited metabolic disease Vol. 34; no. 2; pp. 357 - 366
Main Authors Fridovich-Keil, Judith L., Gubbels, Cynthia S., Spencer, Jessica B., Sanders, Rebecca D., Land, Jolande A., Rubio-Gozalbo, Estela
Format Journal Article
LanguageEnglish
Published Dordrecht Springer Netherlands 01.04.2011
Blackwell Publishing Ltd
Subjects
Adolescent
Adult
Animals
Biochemistry
Child
Epigenesis, Genetic
Escherichia coli - metabolism
Female
Follicle Stimulating Hormone - metabolism
Galactose - metabolism
Galactosemia
Galactosemias - diagnosis
Galactosemias - genetics
Human Genetics
Humans
Internal Medicine
Medicine
Medicine & Public Health
Metabolic Diseases
Ovary - pathology
Pediatrics
Primary Ovarian Insufficiency - genetics
Puberty
Sepsis - genetics
Galactitol
Ovarian Reserve
Antral Follicle Count
Primordial Follicle
Galactosemia
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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.
Bibliography:Communicated by: Gerard T. Berry
Competing interest: None declared.
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ObjectType-Review-1
ISSN:0141-8955
1573-2665
DOI:10.1007/s10545-010-9221-4