title: Pregnancy and delivery after stimulation with rFSH of a galatosemia patient suffering hypergonadotropic hypogonadism: case report.
abstract: OBJECTIVE
  To determine if hypergonadotropic hypogonadism related to galactosemia could be linked to anomaly of the circulating FSH. A 26-year-old woman, suffering GALT (Galactoso-1-phosphate uridyltransferase) had a premature ovarian failure with amenorrhea since the age of 19. The circulating level for FSH was 83 and 34 mU/mL for LH.
  
  
  METHODS
  After treatment with a hormonal substitution cycle including estradiol and progesterone, the patient underwent stimulations with recombinant FSH. The first cycle, one 16-mm diameter follicle and the second cycle one follicle of 17.5 mm of diameter were obtained at the time of ovulation induction.
  
  
  RESULTS
  The patient conceived and delivered a female baby weighting 3.38 kg after the second stimulation protocol.
  
  
  CONCLUSIONS
  The impact of galactosemia on the ovary seems rather related to the absence of recognition of circulating FSH by its receptor and not to a toxic alteration of the ovary by itself as it is currently reported. The rFSH treatment following hormonal substitution cycles allows to overcome infertility problems.
authors.affiliation: IRH/Laboratoire Marcel Merieux, Bron, France. ymenezo@lab-merieux.net
authors.forename: Yves J R
authors.initials: YJ
authors.lastname: Menezo
authors.forename: Maryse
authors.initials: M
authors.lastname: Lescaille
authors.forename: Bernard
authors.initials: B
authors.lastname: Nicollet
authors.forename: Edouard J
authors.initials: EJ
authors.lastname: Servy
mesh_terms: D000328:Adult; D036861:Delivery, Obstetric; D004958:Estradiol / Q000627:therapeutic use; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood / Q000627:therapeutic use*; D005693:Galactosemias / Q000150:complications* / Q000201:enzymology; D006801:Humans; D007006:Hypogonadism / Q000150:complications*; D007247:Infertility, Female / Q000188:drug therapy* / Q000209:etiology; D010062:Ovulation Induction; D011247:Pregnancy; D011256:Pregnancy Outcome; D011374:Progesterone / Q000627:therapeutic use; D011994:Recombinant Proteins / Q000627:therapeutic use; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency
chemical_list: D011994:Recombinant Proteins; D011374:Progesterone; D004958:Estradiol; D005640:Follicle Stimulating Hormone; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase