Fiche publication
Date publication
janvier 2011
Auteurs
Membres identifiés du Cancéropôle Est :
Pr GUEANT Jean-Louis
Tous les auteurs :
Forges T, Monnier P, Leheup B, Cheillan D, Brivet M, Barbarino A, Gueant JL, Feillet F
Lien Pubmed
Résumé
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.
Référence
Fertil Steril. 2011 Jan;95(1):290.e1-3.
