TY - JOUR
T1 - Ovarian function in girls and women with GALT-deficiency galactosemia
AU - Fridovich-Keil, Judith L.
AU - Gubbels, Cynthia S.
AU - Spencer, Jessica B.
AU - Sanders, Rebecca D.
AU - Land, Jolande A.
AU - Rubio-Gozalbo, Estela
PY - 2011/4
Y1 - 2011/4
N2 - 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.
AB - 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.
U2 - 10.1007/s10545-010-9221-4
DO - 10.1007/s10545-010-9221-4
M3 - Article
C2 - 20978943
SN - 0141-8955
VL - 34
SP - 357
EP - 366
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
IS - 2
ER -