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Reproductive potential in classical galactosemia: A case series based perspective.

Bianca Panis1, Ron Jt van Golde2,3, Martijn Cgj Brouwers4,5

  • 1Department of Pediatrics, Genetic Metabolic Diseases, Mosakids hospital, Maastricht University Medical Centre, Maastricht, the Netherlands.

European Journal of Obstetrics & Gynecology and Reproductive Biology: X
|July 1, 2026
PubMed
Summary
This summary is machine-generated.

Women with classical galactosemia (CG), a GALT enzyme deficiency, can achieve spontaneous pregnancies despite premature ovarian insufficiency. This highlights a shift in reproductive counseling, emphasizing fertility preservation and the possibility of natural conception.

Keywords:
Case reportClassical galactosemiaFertility counsellingPremature ovarian insufficiencySpontaneous pregnancy

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Area of Science:

  • Endocrinology
  • Genetics
  • Reproductive Medicine

Background:

  • Classical galactosemia (CG), resulting from galactose-1-phosphate uridylyltransferase (GALT) deficiency, is linked to premature ovarian insufficiency (POI) and subfertility.
  • Recent shifts in counseling advocate for emphasizing subfertility over infertility due to potential for spontaneous pregnancy.

Purpose of the Study:

  • To report on spontaneous conception in women with genetically confirmed CG and POI.
  • To support the updated counseling paradigm for CG patients regarding fertility.

Main Methods:

  • Case report of two women (26 and 30 years old) with genetically confirmed CG and POI.
  • Monitoring of adherence to a galactose-restricted diet and regular endocrine assessments.
  • Documentation of pregnancy outcomes.

Main Results:

  • Both women with CG and POI conceived spontaneously.
  • Pregnancies were uncomplicated, with full-term delivery of healthy infants.
  • Anti-Müllerian hormone (AMH) was not a reliable predictor of reproductive potential in these cases.

Conclusions:

  • Spontaneous conception is possible in women with classical galactosemia.
  • Reproductive counseling for CG should include fertility preservation and discuss the potential for spontaneous pregnancy.
  • A two-year window to attempt conception is advisable; AMH is not a reliable prognostic marker for fertility in CG.