title: 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.
  
  
  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.
authors.affiliation: 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
authors.forename: Thierry
authors.initials: T
authors.lastname: Forges
authors.forename: Patricia
authors.initials: P
authors.lastname: Monnier
authors.forename: Bruno
authors.initials: B
authors.lastname: Leheup
authors.forename: David
authors.initials: D
authors.lastname: Cheillan
authors.forename: Michèle
authors.initials: M
authors.lastname: Brivet
authors.forename: Aurelio
authors.initials: A
authors.lastname: Barbarino
authors.forename: Jean-Louis
authors.initials: JL
authors.lastname: Guéant
authors.forename: François
authors.initials: F
authors.lastname: Feillet
mesh_terms: 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