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Gonadal function in patients with galactosaemia.

F R Kaufman, G N Donnell, T F Roe

    Journal of Inherited Metabolic Disease
    |January 1, 1986
    PubMed
    Summary
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    Galactosemia causes ovarian failure in females, leading to amenorrhea and hypogonadism. Male gonadal function remains unaffected, suggesting the ovary is uniquely vulnerable to galactose toxicity.

    Area of Science:

    • Endocrinology
    • Metabolic Disorders
    • Reproductive Biology

    Background:

    • Galactosemia, a genetic disorder caused by galactose-1-phosphate (Gal-1-P) uridyl transferase deficiency, affects galactose metabolism.
    • Accumulation of galactose or Gal-1-P is implicated in various health complications.

    Purpose of the Study:

    • To investigate the long-term effects of galactosemia on gonadal function in affected individuals.
    • To determine if galactosemia leads to acquired ovarian failure and assess testicular function.

    Main Methods:

    • Longitudinal study tracking gonadal function in 26 females and 12 males with galactosemia over 4 years.
    • Hormonal assessments including gonadotropin-releasing hormone (LRH) stimulation tests were performed.

    Main Results:

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    • All but two females exhibited evidence of acquired ovarian failure, including primary/secondary amenorrhea and hypergonadotropic hypogonadism.
    • Female patients showed abnormal responses to LRH tests, indicative of gonadal insufficiency.
    • Male patients maintained normal gonadal function throughout the study period.

    Conclusions:

    • Galactosemia appears to cause acquired ovarian failure in females, with the ovary being particularly susceptible to galactose or Gal-1-P toxicity.
    • The exact mechanism of ovarian damage is unknown but may involve prenatal and postnatal accumulation of galactose metabolites.
    • The testis demonstrates relative resistance to the adverse effects of abnormal galactose metabolism.