title: Gonadal function and ovarian galactose metabolism in classic galactosemia.
abstract: Evaluation of ovarian steroid secretion, histologic examination of ovarian tissue, and incubation studies with radiolabelled galactose in ovarian tissue slices were performed in a 21-year-old woman with galactosemia and incipient ovarian failure. After exogenous gonadotropin administration in an attempt to achieve fertility, there was no evidence of ovulation by ultrasound; estrogen and androgen production were deficient indicating ovarian unresponsiveness. Histologic examination of the ovary revealed that the ovarian stroma had an increase in fibrous tissue and that a few hyalinized atretic follicles were present with no intermediate or evolving Graafian follicles. After incubation with galactose-1-14C, there was absence of labelled CO2 production and only labelled galactose-1-phosphate was identified as compared to controls in which several labelled intermediates could be seen. The incorporation of galactose into the TCA-insoluble fraction was drastically reduced in the patient compared to controls, suggesting that there may be a deficiency of ovarian galactose-containing glycolipids, glycoproteins and mucopolysaccharides in the galactosemic ovary. Deficiency in the production of galactose containing compounds, or galactose-1-phosphate accumulation or both, may lead to the development of hypergonadotropic hypogonadism seen in women with galactosemia.
authors.affiliation: Department of Pediatrics, University of Southern California School of Medicine, Children's Hospital of Los Angeles.
authors.forename: F R
authors.initials: FR
authors.lastname: Kaufman
authors.forename: Y K
authors.initials: YK
authors.lastname: Xu
authors.forename: W G
authors.initials: WG
authors.lastname: Ng
authors.forename: P D
authors.initials: PD
authors.lastname: Silva
authors.forename: R A
authors.initials: RA
authors.lastname: Lobo
authors.forename: G N
authors.initials: GN
authors.lastname: Donnell
mesh_terms: D000293:Adolescent; D000328:Adult; D002245:Carbon Dioxide / Q000378:metabolism; D004958:Estradiol / Q000378:metabolism; D005260:Female; D005640:Follicle Stimulating Hormone / Q000378:metabolism; D005690:Galactose / Q000378:metabolism*; D005693:Galactosemias / Q000378:metabolism* / Q000473:pathology; D006801:Humans; D007986:Luteinizing Hormone / Q000378:metabolism; D008596:Menotropins / Q000008:administration & dosage; D010053:Ovary / Q000201:enzymology* / Q000473:pathology; D010060:Ovulation / Q000187:drug effects
chemical_list: D002245:Carbon Dioxide; D004958:Estradiol; D008596:Menotropins; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D005690:Galactose