Klinefelter Syndrome
Back to: Endocrine Disorders
Description
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.
Anatomy
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).
Causes
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.
Impact
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.
Our Team
Rosemary Tomkinson
Reception
Symptoms
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:
Muscle weakness
Bone weakness
Decreased body hair including facial hair
Failure to reach developmental milestones
Docile disposition
Incompletely descended testicles
Tall stature
Long legs
Broad hips
Delayed or absent puberty
Small testicles
Small penis
Enlargement of breasts
Lethargic behaviour
Social awkwardness
Decreased sex drive
Infertility
Diagnosis
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.
Untreated
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.
Treatment Options
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.
Prognosis
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.
Research
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.
Have questions?
Check our FAQ section, and if you still have questions or concerns we suggest you take your child to visit their GP, who can refer to us if needed.