Ovarian tissue cryopreservation and subsequent spontaneous pregnancies in a patient with classic galactosemia

Abstract

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.