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Author Notes:

Correspondence: Judith L. Fridovich-Keil, Ph.D., Department of Human Genetics Emory University School of Medicine, Room 325.2 White-head Bldg., 615 Michael Street, Atlanta, GA 30322; Email: jfridov@emory.edu

Authors' Contributions: J.R.B. and U.C. contributed equally to this work.

Acknowledgments: The authors are especially grateful to the many wonderful study volunteers and their families, without whose participation this project would have been impossible.

They also thank the staff of the Emory Genetics Laboratory for their assistance with obtaining clinical laboratory discards and other members of the Fridovich-Keil laboratory, especially Emily Ryan, for their many contributions and support.

Finally, the authors thank the staff members of the Reproductive Endocrine Reference Laboratory at Massachusetts General Hospital and the Yerkes Biomarker Core Laboratory at Emory (especially Joi Murphy) for assistance with the AMH and FSH analyses.

Disclosures: All authors have nothing to disclose.


Research Funding:

Supported by National Institutes of Health grant RO1 DK059904 (J.L.F-K.) and National Research Service Award 2 T32 DK007298-31 (J.R.B.).


  • POI
  • galactosemia
  • Duarte
  • DG
  • ovarian function
  • AMH
  • MIS
  • FSH

Ovarian function in Duarte galactosemia


Journal Title:

Fertility and Sterility


Volume 96, Number 2


, Pages 469-473.e1

Type of Work:

Article | Post-print: After Peer Review


Objective To determine if girls with Duarte variant galactosemia (DG) have an increased risk of developing premature ovarian insufficiency based on prepubertal anti-Mullerian 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.

Copyright information:

©2011 American Society for Reproductive Medicine, Published by Elsevier Inc.

This is an Open Access work distributed under the terms of the Creative Commons Attribution-NonCommerical-NoDerivs 3.0 Unported License (http://creativecommons.org/licenses/by-nc-nd/3.0/).

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