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  • Galactosemia and its effect on FSH hormone in female infants
  • Zahra Ramezani,1,* Issa Layali,2 Saghar moosavi,3 Negin Koohi,4 Fatemeh Karimi,5
    1. Tehran Medical Sciences Branch
    2. Tehran Medical Sciences Branch
    3. Tehran Medical Sciences Branch
    4. Tehran Medical Sciences Branch
    5. Tehran Medical Sciences Branch


  • Introduction: This article discusses a disease called galactosemia, which is a genetic disorder that can cause serious symptoms and long-term complications in infants and children. The disease affects the way the body breaks down glucose, leading to the accumulation of toxic substances. The text details the discovery and progression of our understanding of galactosemia over the past century, from our initial understanding of the disease's clinical appearance to the discovery of multiple types of the disorder and the underlying genetic and biochemical causes. It describes the discovery of potential treatments, including drugs to reduce toxic intermediates, antioxidants to reduce oxidative stress, and the use of "drug chaperones" to stabilize damaged proteins. The text emphasizes the importance of early diagnosis and treatment to prevent long-term complications, particularly in infants and girls with classic galactosemia who may experience premature ovarian failure.
  • Methods: Classical galactosemia is a genetic disorder characterized by the absence or inactivity of the enzyme galactose-1-phosphate uridyltransferase. It mainly affects infants and causes life-threatening symptoms such as vomiting, jaundice, hepatosplenomegaly and Escherichia coli sepsis in untreated form. One of the possible underlying mechanisms of ovarian failure is FSH inactivity due to secondary hypoglycosylation, which has been proposed as a potential mechanism for primary ovarian failure. To investigate the role of FSH and gain insight into the timing of injury, ovarian stimulation experiments were performed and ovarian imaging data were collected. 15 patients with primary ovarian failure underwent ovarian stimulation with gonadotropin. People with classic galactosemia are usually treated with exogenous estrogens to treat the hypoestrogenism complications of this disease, and the mechanism of primary ovarian failure in this disease is not fully understood. While various mechanisms have been hypothesized, including direct toxicity of metabolites and altered gene expression due to glycosylation abnormalities, it is likely that not one but several mechanisms are responsible for this clinical picture. Alteration of FSH function due to hypoglycosylation in this disease can lead to early ovarian failure, and if FSH inactivity is a key mechanism, we can expect an increase in estradiol when exogenous and active FSH is administered. However, the results of studies on the glycosylation pattern of FSH in women with classic galactosemia and POI are different, and it is believed that not one, but several mechanisms acting in concert are responsible for this clinical picture.
  • Results: classical galactosemia is an inherited metabolic disorder caused by GALT deficiency and causes glycosylation abnormalities, and while most affected infants are spared acute and potentially fatal symptoms due to early diagnosis and lifelong nutritional interventions, Many patients have long-term complications includingPremature ovarian failure is in the vast majority of girls and young women.
  • Conclusion: This condition is caused by mutations in genes involved in galactose metabolism. There are different forms of galactosemia and the severity of symptoms can vary, which we have mentioned in this review article.
  • Keywords: Hereditary metabolic disorder Ovarian failure Exogenous estrogens Hypoglycosylation Hypoestrogenism