OBJECTIVE: To determine if girls with Duarte variant galactosemia (DG) have an increased risk of developing premature ovarian insufficiency based on prepubertal anti-Müllerian hormone (AMH) levels. DESIGN: Cross-sectional study. SETTING: University research laboratory. PATIENT(S): Study volunteers included 57 girls with DG, 89 girls with classic galactosemia (GG), and 64 control girls between the ages of <1 month and 10.5 years. INTERVENTION(S): Blood sampling. MAIN OUTCOME MEASURE(S): We determined AMH and FSH levels in study volunteers with and without Duarte variant or GG. RESULT(S): FSH levels were significantly higher and AMH levels significantly lower in girls with GG than in age-stratified control girls, but there was no significant difference between FSH and AMH levels in girls with DG and control girls. CONCLUSION(S): Although >80% of girls with GG in this study demonstrated low to undetectable AMH levels consistent with diminished ovarian reserve, 100% of girls with DG in our study demonstrated no apparent decrease in AMH levels or increase in FSH levels, suggesting that these girls are not at increased risk for premature ovarian insufficiency.
OBJECTIVE: To determine if girls with Duarte variant galactosemia (DG) have an increased risk of developing premature ovarian insufficiency based on prepubertal anti-Müllerian hormone (AMH) levels. DESIGN: Cross-sectional study. SETTING: University research laboratory. PATIENT(S): Study volunteers included 57 girls with DG, 89 girls with classic galactosemia (GG), and 64 control girls between the ages of <1 month and 10.5 years. INTERVENTION(S): Blood sampling. MAIN OUTCOME MEASURE(S): We determined AMH and FSH levels in study volunteers with and without Duarte variant or GG. RESULT(S): FSH levels were significantly higher and AMH levels significantly lower in girls with GG than in age-stratified control girls, but there was no significant difference between FSH and AMH levels in girls with DG and control girls. CONCLUSION(S): Although >80% of girls with GG in this study demonstrated low to undetectable AMH levels consistent with diminished ovarian reserve, 100% of girls with DG in our study demonstrated no apparent decrease in AMH levels or increase in FSH levels, suggesting that these girls are not at increased risk for premature ovarian insufficiency.
Authors: Rebecca D Sanders; Jessica B Spencer; Michael P Epstein; Susan V Pollak; Pratibhasri A Vardhana; Joyce W Lustbader; Judith L Fridovich-Keil Journal: Fertil Steril Date: 2008-08-05 Impact factor: 7.329
Authors: Can Ficicioglu; Nina Thomas; Claire Yager; Paul R Gallagher; Christie Hussa; Andrea Mattie; Debra L Day-Salvatore; Brian J Forbes Journal: Mol Genet Metab Date: 2008-10-30 Impact factor: 4.797
Authors: Erik A H Knauff; Renate Richardus; Marinus J Eijkemans; Frank J Broekmans; Frank J de Jong; Bart C J M Fauser; Annet M Bosch Journal: Reprod Sci Date: 2007-12 Impact factor: 3.060
Authors: Kimberly K Powell; Kim Van Naarden Braun; Rani H Singh; Stuart K Shapira; Richard S Olney; Marshalyn Yeargin-Allsopp Journal: Genet Med Date: 2009-12 Impact factor: 8.822
Authors: Jessica B Spencer; Jennifer R Badik; Emily L Ryan; Tyler J Gleason; K Alaine Broadaway; Michael P Epstein; Judith L Fridovich-Keil Journal: J Clin Endocrinol Metab Date: 2013-05-20 Impact factor: 5.958