Male hypogonadism due to a mutation in the gene for the beta-subunit of follicle-stimulating hormone

Article Abstract:

Researchers report a teenage boy with delayed puberty who had a mutation in the gene for follicle-stimulating hormone. This hormone occurs in both men and women and in men is responsible for the growth of seminiferous tubules in the testes as well as the production of sperm. The boy was 18 years old but had not developed the physical changes that normally occur in puberty. Analysis of his semen revealed the complete absence of sperm. Analysis of DNA from blood cells showed that he had two copies of a mutation in the gene for the beta chain of follicle-stimulating hormone. His parents and a brother had one copy of the mutation.

Hypogonadism

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Microdeletions in the Y chromosome of infertile men

Article Abstract:

Some men who are infertile have a small deletion in the Y chromosome but it is not clear if the deletion causes the infertility. Researchers used genetic analysis to study the Y chromosomes of 200 infertile men and 200 fertile men. Seven percent of the infertile men had a small deletion in the Y chromosome compared to 2% of the fertile men. Most of the men with the deletion had low sperm counts but one man had normal sperm counts. Two men's fathers also had the deletion, indicating that a man with the deletion can still father children. Twenty-three percent of men with extremely low sperm counts had the deletion.

Abnormalities, Infertility, Male, Male infertility, Y chromosome

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Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency

Article Abstract:

The CD3delta subunit of the T cell receptor complex is necessary for the maturation of T cells, according to a study of three members of a Mennonite family. They all had severe combined immunodeficiency (SCID) and a detailed analysis showed that they all had almost no mature, functioning T cells. They all had a defect in the gene for the CD3delta subunit.

Severe combined immunodeficiency

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