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. 2011 Aug;96(2):469-473.e1.
doi: 10.1016/j.fertnstert.2011.05.088. Epub 2011 Jun 29.

Ovarian function in Duarte galactosemia

Jennifer R Badik  1 , Uriel Castañeda, Tyler J Gleason, Jessica B Spencer, Michael P Epstein, Can Ficicioglu, Kristi Fitzgerald, Judith L Fridovich-Keil
Affiliations

Ovarian function in Duarte galactosemia

Jennifer R Badik et al. Fertil Steril. 2011 Aug.

Abstract

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.

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Conflict of interest statement

J.R.B. has nothing to disclose. U.C. has nothing to disclose. T.J.G. has nothing to disclose. J.B.S. has nothing to disclose. M.P.E. has nothing to disclose. C.F. has nothing to disclose. K.F. has nothing to disclose. J.L.F-K. has nothing to disclose.

Figures

FIGURE 1
FIGURE 1
Box and whisker plots of AMH values by age group and diagnostic category (A) girls ages 0 to 3 months, (B) girls ages > 3 to 18 months, and (C) girls ages > 18 months to 10.5 years. The bottom and top of each box represent the 25th and 75th percentiles of the data set, respectively, and the horizontal line within each box represents the 50th percentile for that data set. The lower and upper whiskers represent the 10th and 90th percentiles for the data set, respectively, and any data points falling outside of the box are plotted.
FIGURE 2
FIGURE 2
Box and whisker plots of FSH values by age group and diagnostic category (A) girls ages 0 to 3 months, (B) girls ages > 3 to 18 months, and (C) girls ages > 18 months to 10.5 years. The bottom and top of each box represent the 25th and 75th percentiles of the data set, respectively, and the horizontal line within each box represents the 50th percentile for that data set. The lower and upper whiskers represent the 10th and 90th percentiles for the data set, respectively, and any data points falling outside of the box are plotted.
See this image and copyright information in PMC

References

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    1. Ficicioglu C, Thomas N, Yager C, Gallagher PR, Hussa C, Mattie A, et al. Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening. Mol Genet Metab. 2008;95:206–12. - PubMed
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