Klinefelter Syndrome is a common genetic disorder that affects males. It is characterised by reduced muscle mass, decreased facial and body hair and enlargement of breasts. Individuals with this condition have small testicles which may lead to lowered production of the male hormone testosterone. Most often the condition is not discovered until adulthood.
Humans have 2 sex chromosomes designated as X and Y. Males have one X and one Y chromosome (XY) and females have two X chromosomes (XX). In case of Klinefelter’s syndrome, the male has an extra copy of the X chromosome (XXY).
Klinefelter Syndrome is not an inherited disorder. The additional X chromosome occurs as a random error either during formation of the sperm or egg or after conception.
Boys with this condition often have speech and learning difficulties leading to disruptive behaviour. Klinefelter’s syndrome may sometimes be associated with autism. Individuals may develop body image problems and poor self-esteem as a result of developing breasts. It may be associated with chronic diseases such as osteoporosis, diabetes, lupus, infertility, and depression. All these conditions have a negative impact on the individual’s life.
In many cases, individuals with Klinefelter’s syndrome have very few symptoms and the condition may go undiagnosed until reaching adulthood. Signs and symptoms may include:
Decreased body hair including facial hair
Failure to reach developmental milestones
Incompletely descended testicles
Delayed or absent puberty
Enlargement of breasts
Decreased sex drive
Diagnostic tests for Klinefelter’s syndrome include:
Physical examination: To examine the genital/chest area and to assess reflexes/ development.
Blood and urine test: To check for low testosterone levels and increased levels of follicle stimulating hormone and luteinizing hormone.
Karyotyping: To confirm the genetic makeup (XXY) of the individual.
Left untreated Klinefelter Syndrome can cause noticeable physical abnormalities such as decreased muscle mass, lack of body hair, gross enlargement of breasts, osteoporosis, autoimmune disease, sexual dysfunction, and infertility.
The treatment options include:
Testosterone replacement: This can produce increased muscle mass and bone density, deepening of voice, growth of facial and body hair and increased penis size.
Breast tissue removal: This procedure is performed by a plastic surgeon to remove unwanted breast tissue and change the appearance of teh chest.
Speech and physical therapy.
Educative support: It can help individuals manage and overcome learning disability that may result from the syndrome.
Intracytoplasmic sperm injection (ICSI): This procedure can be employed to increase the chances of conception in males with very low sperm count.
Psychological counselling: This will be of great benefit during the emotional and physical changes that occur during the transformation of childhood to adulthood.
With proper management and treatment, individuals with Klinefelter’s syndrome can lead normal lives with barely noticeable difficulties as a result of their condition. Educational and social support play an important role in ensuring a good prognosis.
There has been an extensive research in the treatment of Klinefelter’s syndrome. Some studies include:
F, Lanfranco; A, Kamischke; M, Zitzmann; E, Nieschlag. Klinefelter's syndrome. Lancet. 2004 Jul 17-23;364(9430):273-83.
SA, Dávila Garza; P, Patrizio. Reproductive outcomes in patients with male infertility because of Klinefelter's syndrome, Kartagener's syndrome, round-head sperm, dysplasia fibrous sheath, and 'stump' tail sperm: an updated literature review. Curr Opin Obstet Gynecol. 2013 Jun;25(3):229-46.