Fertility in adult women with classic galactosemia and primary ovarian insufficiency.

van Erven, Britt; Berry, Gerard T; Cassiman, David; Connolly, Geraldine; Forga, Maria; Gautschi, Matthias; Gubbels, Cynthia S; Hollak, Carla E M; Janssen, Mirian C; Knerr, Ina; Labrune, Philippe; Langendonk, Janneke G; Õunap, Katrin; Thijs, Abel; Vos, Rein; Wortmann, Saskia B; Rubio-Gozalbo, M Estela (2017). Fertility in adult women with classic galactosemia and primary ovarian insufficiency. Fertility and sterility, 108(1), pp. 168-174. Elsevier 10.1016/j.fertnstert.2017.05.013

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OBJECTIVE 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. DESIGN Multicenter retrospective observational study. SETTING Metabolic centers. PATIENT(S) Adult women (aged >18 y) with confirmed classic galactosemia and primary ovarian insufficiency were included. INTERVENTION(S) 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. RESULT(S) 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. CONCLUSION(S) 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.

Item Type:

Journal Article (Original Article)


04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Institute of Clinical Chemistry
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine

UniBE Contributor:

Gautschi, Matthias


600 Technology > 610 Medicine & health








Marie-Christine Müller

Date Deposited:

26 Mar 2018 16:49

Last Modified:

30 Oct 2019 19:09

Publisher DOI:


PubMed ID:


Uncontrolled Keywords:

Classic galactosemia GALT deficiency fertility pregnancy primary ovarian insufficiency





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