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Updated: Jun 10, 2026
Fertility Preservation in Patients with Severe Ovarian Dysfunction
Published on: March 25, 2021
Ovarian tissue cryopreservation and subsequent spontaneous pregnancies in a patient with classic galactosemia
Thierry Forges1, Patricia Monnier, Bruno Leheup
1INSERM U954, Nutrition, Genetics, and Environmental Risk Exposure, Nancy University Medical School, and Department of Pediatrics and Clinical Genetics, University Hospital of Nancy, Vandoeuvre lès Nancy, France. t.forges@maternite.chu-nancy.fr
Objective:
To report two consecutive spontaneous pregnancies in a compound heterozygous patient with classic galactosemia and a heterozygous partner, 6 years after ovarian tissue cryopreservation.
Design:
Case report.
Setting:
Tertiary health care center.
Patient(S):
A patient with classic galactosemia and strict adherance to a galactose-free diet.
Intervention(S):
Right ovariectomy by laparoscopy and cryopreservation of cortical slices; metabolic follow-up.
Main Outcome Measure(S):
Genotyping, galactose-1-phosphate uridyltransferase (GALT) activity and erythrocyte galactose-1-phosphate determination, histology of ovarian cortex, pregnancy achievement.
Result(S):
Undetectable GALT activity; compound heterozygosity: association of c.563A>G (p.Gln188Arg) and a novel mutation c.982C>T (p.Arg328Cys); rare growing follicles and abnormally low primordial follicles; two uneventful spontaneous pregnancies without need for autografting of the cryopreserved tissue.
Conclusion(S):
The risk for ovarian failure is a frequent concern, but spontaneous pregnancies may occur, even repeatedly, in young patients with galactosemia. Thus, there is a need for more accurate predictive factors to guide the indication for ovarian tissue cryopreservation, the benefits and risks of which have to be balanced through a multidisciplinary approach.
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