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Author Notes:

Judith L. Fridovich-Keil, Department of Human Genetics, Emory University School of Medicine, Rm. 325.2 Whitehead Bldg., 615 Michael St, Atlanta, GA 30322 TEL 404-727-3924, FAX 404-727-3949, jfridov@emory.edu.

Allison Frederick and Grace Carlock assembled much of the data for this project, generated most of the figures, and contributed to editing of the manuscript.

Alison Zinsli and Karen Conneely performed all of the statistical analyses for this project and contributed to writing and editing of the manuscript.

Judy Fridovich-Keil designed the project, contributed to data collection, coordinated the activities of the other authors, and wrote most of the manuscript.

We are especially grateful to the many families and individuals who participated in this study; and to the Galactosemia Foundation (www.galactosemia.org) through which most volunteers found us.Without them, none of this work would have been possible.

Authors declare that they have no conflicts of interest.


Research Funding:

This work was funded in part by grant DK107900 from the National Institutes of Health (to JLFK).


  • Science & Technology
  • Life Sciences & Biomedicine
  • Endocrinology & Metabolism
  • Genetics & Heredity
  • Medicine, Research & Experimental
  • Research & Experimental Medicine

Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia


Journal Title:

Journal of Inherited Metabolic Disease


Volume 41, Number 5


, Pages 785-790

Type of Work:

Article | Post-print: After Peer Review


Classic galactosemia (CG) is an inherited metabolic disorder that affects about 1 in 50,000 live births in the United States and many other countries. With the benefit of early detection by newborn screening and rapid dietary restriction of galactose, generally achieved by removing dairy from the diet, most affected infants are spared the acute and potentially lethal symptoms of disease. Despite early detection and life-long dietary intervention, however, most patients grow to experience a constellation of long-term complications that include premature ovarian insufficiency in the vast majority of girls and young women. Our goal in the study reported here was to define the presentation, progression, and predictors of ovarian insufficiency in a cohort of 102 post-pubertal girls and women with CG. To our knowledge, this is the largest cohort studied to date. We found that 68% of the girls and women in our study achieved spontaneous menarche, while 32% achieved menarche only after starting hormone replacement therapy (HRT). Of those who achieved spontaneous menarche, fewer than 50% were still cycling regularly after 3 years, and fewer than 15% were still cycling regularly after 10 years. Of factors tested for possible association with spontaneous menarche, only detectable (≥ 0.04 ng/mL) plasma anti-Müllerian hormone (AMH) level was significant. These results extend substantially from prior studies and confirm that detectable plasma AMH is a useful predictor of ovarian function in girls and women with CG.

Copyright information:

© 2018, SSIEM.

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