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Gonadal function and ovarian galactose metabolism in classic galactosemia

, : Gonadal function and ovarian galactose metabolism in classic galactosemia. Acta Endocrinologica 120(2): 129-133

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 Graffian 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.


PMID: 2492704

DOI: 10.1530/acta.0.1200129

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