Hypogonadism caused by a single amino acid substitution in the beta subunit of luteinizing hormone
Article Abstract:
A man with a history of delayed puberty and infertility was found to have a defective form of luteinizing hormone. The man's parents and maternal grandparents were first cousins, and three maternal uncles underwent puberty at the usual age but subsequently became infertile. Analysis of the man's luteinizing hormone showed a substitution of the amino acid arginine for glutamine in the beta subunit. A test to measure the binding of his hormone to its receptor found no bound hormone even though the level of luteinizing hormone in his blood was twice normal. His mother's hormone binding was only 50% of normal, indicating that she probably had equal amounts of normal and defective hormone in her blood.
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 1992
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A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor
Article Abstract:
The cases of a brother and sister with hypogonadotropic hypogonadism illustrate that this condition can be caused by a gene mutation in the receptor for gonadotropin-releasing hormone (GnRH). The 22-year-old man was first seen by a doctor because of small sex organs and impaired sex drive. His 37-year-old sister had a history of infertility, infrequent menstrual periods and small ovaries. Both were found to have two different gene mutations in the GnRH receptor. Their father and another sister had one of the mutations and the mother the other, but they were not affected.
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 1997
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Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone beta-subunit gene
Article Abstract:
A mutation in the gene for one of the subunits of follicle stimulating hormone (FSH) should be considered in girls with delayed puberty and FSH deficiency. This was found to be the case in a 16-year-old girl with delayed puberty. Genetic analysis revealed that she had inherited two different mutations affecting the FSH beta subunit, one from her mother and one from her father. The mutations would prevent the two subunits from combining, rendering the hormone inactive. The girl had a profound deficiency of estrogen as well.
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 1997
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