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


METHODS
Case report.


METHODS
Tertiary health care center.


METHODS
A patient with classic galactosemia and strict adherance to a galactose-free diet.


METHODS
Right ovariectomy by laparoscopy and cryopreservation of cortical slices; metabolic follow-up.


METHODS
Genotyping, galactose-1-phosphate uridyltransferase (GALT) activity and erythrocyte galactose-1-phosphate determination, histology of ovarian cortex, pregnancy achievement.


RESULTS
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.


CONCLUSIONS
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.
Forges
Thierry
T
INSERM 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
Monnier
Patricia
P
Leheup
Bruno
B
Cheillan
David
D
Brivet
Michèle
M
Barbarino
Aurelio
A
Guéant
Jean-Louis
JL
Feillet
François
F
D000293:Adolescent; D015925:Cryopreservation; D005260:Female; D005298:Fertility; D005693:Galactosemias / Q000150:complications*; D006801:Humans; D010052:Ovariectomy; D010053:Ovary / Q000166:cytology* / Q000601:surgery; D011247:Pregnancy; D011256:Pregnancy Outcome