Single-gene mutations resulting in reproductive dysfunction in women

Article Abstract:

Several single-gene mutations that affect the female reproductive system are discussed. Kallman's syndrome affects both men and women and is caused by a defect in the cells that produce gonadotropin-releasing hormone. Some patients have resistance to gonadotropin-releasing hormone, probably because of a defect in its cell receptor. A deficiency of follicle-stimulating hormone can often be traced to a gene mutation. A mutation in this hormone's receptor can cause hypergonadotropic hypogonadism. Cases of women who are resistant to luteinizing hormone have also been linked to a gene mutation. Other disorders include congenital lipoid adrenal hyperplasia, galactosemia, aromatase deficiency, and McCune-Albright syndrome.

Infertility, Female, Female infertility, Genital diseases, Female, Female genital diseases

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Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene

Article Abstract:

Congenital hyperinsulinism may be caused by a gene mutation that causes increased activity of the enzyme glutamate dehydrogenase. This enzyme regulates the secretion of insulin. Researchers used DNA analysis to identify mutations in the gene for this enzyme in 8 children with hyperinsulinism-hyperammonemia syndrome, which is characterized by high blood levels of insulin and ammonia. These children had increased enzyme activity and also a mutation in the gene for the enzyme. Five different mutations were identified.

Physiological aspects, Dehydrogenases, Oxidoreductases, Insulin, Hypoglycemia

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