Klinefelter's syndrome is a genetic disease that only affects men. As a result of chromosome aberrations, most of them are practically unable to produce sperm, therefore 95-99% of patients are sterile. What are the causes and symptoms of Klinefelter syndrome? Is it possible to treat the disease and restore fertility?

Klinefelter's syndromeaka 47, XXY syndrome or hypergonadotrophic hypogonadism is a genetic disease in which at least one extra X chromosome is present in men. Classic Klinefelter's syndrome is caused by an abnormal genotype 47, XXY. There are also patients with even more chromosomes: 48 XXYY and 49 XXXXY. Klinefelter's syndrome is diagnosed in 1 in 1,000 boys born.

Klinefelter syndrome: causes

The cause of Klinefelter syndrome is a chromosomal aberration caused by the presence of an extra X chromosome, which determines the female sex. The cause of this genetic abnormality is a disturbance of the meiotic division in male and female reproductive cells.

Klinefelter syndrome: symptoms

Symptoms of Klinefelter's syndrome are not recognized until puberty, when properly the production of testosterone increases rapidly. Patients with Klinefelter's syndrome have an abnormal course of sexual maturation because the production of this hormone is insufficient. Then in patients with cardiotype 47, XXY the following is observed:

  • above average growth
  • female body silhouette (characteristic structure of the pelvis and chest)
  • small testicles
  • underdeveloped muscles
  • long arms and legs
  • no facial hair and little body hair
  • gynecomastia, i.e. male breasts

In patients with more X chromosomes, symptoms are much more severe than in classic Klinefelter syndrome. In patients with 48, XXYY and 48, XXXY karyotypes, apart from the above-mentioned symptoms, mental disorders are also observed. In addition, ocular hypertelorism, i.e. too widely spaced eyes, flat nose and clinodactyly of the fifth finger of the hand, i.e. lateral or medial curvature of the finger is characteristic.

Important

Fraccaro Team

The Fraccaro team is a team characterKlinefelter, however, was separated due to significant differences.

Contrary to patients with 48, XXYY and 48, XXXY karyotype, patients with 49, XXXXY are short, have severe facial dysmorphic features, such as hypertelorism or flat nose. Some boys are born with a cleft palate.

Congenital heart defects, radial-ulnar synostosis, hollow foot (pes cavus), valgus knees (genu valgum), hypotonia and laxity in the joints are also not uncommon. There are also mental disorders.

Patients with more than one extra X chromosome have moderate to severe intellectual disability. According to research, each additional X chromosome is associated with a decrease in IQ by an average of 15-16 points.

Klinefelter syndrome: diagnosis

The diagnosis is made on the basis of the cytogenetic test (chromosome analysis) that confirms or excludes the presence of an additional X chromosome.

Klinefelter syndrome: treatment

Under the supervision of a pediatrician, endocrinologist and geneticist, testosterone hormone therapy is used from the moment the patient turns 12 until the end of his life.

There is no causal treatment for the disease. It is also impossible to restore fertility.

Category:

Genetic diseases