Genetics of Male Infertility - Other Conditions

Genetics of Male Infertility - Other conditions

Myotonic dystrophy:

Myotonic dystrophy is an autosomal dominant trait transmitted with variable penetrance. There is an expansion (more than 35 repeat motifs) of the CTG sequence on the long arm of chromosome 19 (region q13.3). The gene involved encodes for a member of the serine/threonine protein kinase family. 50 to thousands of CTG repeats have been found in mutant alleles. In 30% of individuals with muscular dystrophy, male infertility is observed. Some degree of testicular atrophy occurs in at least 80% of males suffering from this disorder.

Kartagenar syndrome:

Kartagener syndrome (KS) is inherited in an autosomal recessive pattern. Symptoms result from defective cilia motility. Middle ear infections, sinusitis, bronchiectasies, situs inversus and sperm immotility are characteristics of this syndrome.

The gene responsible has been cloned on the short arm of chromosome 1 (region p35.1).