Fertility in adult women with classic galactosemia and primary ovarian insufficiency

The fertility of women with classic galactosemia and primary ovarian insufficiency is not as impaired as pre- viously thought, warranting a more encouraging nature to fertility counseling.

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Volume 108, Issue 1, Pages 168–174


Britt van Erven, M.D., Ph.D., Gerard T. Berry, M.D., David Cassiman, M.D., Ph.D., Geraldine Connolly, M.D., Maria Forga, M.D., Matthias Gautschi, M.D., Ph.D., Cynthia S. Gubbels, M.D., Ph.D., Carla E.M. Hollak, M.D., Ph.D., Mirian C. Janssen, M.D., Ph.D., Ina Knerr, M.D., Ph.D., Philippe Labrune, M.D., Ph.D., Janneke G. Langendonk, M.D., Ph.D., Katrin Õunap, M.D., Ph.D., Abel Thijs, M.D., Ph.D., Rein Vos, Ph.D., Saskia B. Wortmann, M.D., Ph.D., M. Estela Rubio-Gozalbo, M.D., Ph.D.



To study pregnancy chance in adult women with classic galactosemia and primary ovarian insufficiency. Despite dietary treatment, >90% of women with classic galactosemia develop primary ovarian insufficiency, resulting in impaired fertility. For many years, chance of spontaneous conception has not been considered, leading to counseling for infertility. But an increasing number of reports on pregnancies in this group questions whether current counseling approaches are correct.


Multicenter retrospective observational study.


Metabolic centers.


Adult women (aged >18 y) with confirmed classic galactosemia and primary ovarian insufficiency were included.


Participants and medical records were consulted to obtain study data in a standardized manner with the use of a questionnaire.

Main Outcome Measure(s)

Conception opportunities, time to pregnancy, pregnancy outcome, hormone replacement therapy use, fertility counseling, and the participants' vision of fertility were evaluated. Potential predictive factors for increased pregnancy chance were explored.


Eighty-five women with classic galactosemia and primary ovarian insufficiency participated. Twenty-one women actively attempted to conceive or did not take adequate contraceptive precautions. Of these 21 women, nine became pregnant spontaneously (42.9%). This was higher than reported in primary ovarian insufficiency due to other causes (5%–10%). After a period of 12 months, a cumulative proportion of 27.8% of couples had conceived, which increased to 48.4% after 24 months and 61.3% after 27 months. Predictive factors could not be identified. A considerable miscarriage rate of 30% was observed (6 of 20 pregnancies). Although a substantial proportion of women expressed a child-wish (n = 28/53; 52.8%), the vast majority of participants (n = 43/57; 75.4%) considered conceiving to be highly unlikely, owing to negative counseling in the past.


The pregnancy rate in women with classic galactosemia and primary ovarian insufficiency was higher than for women with primary ovarian insufficiency of any cause. This shifting paradigm carries significant implications for fertility counseling and potential application of fertility preservation techniques.

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Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders.