Klinefelter Syndrome - Symptoms, Risk Factors, Diagnosis & Treatment
Created by Dr. Surbhi Saini Updated on Nov 29, 2018
Chromosomes are the holders of life’s very blueprints. Every process in the body begins at the level of genes that are held by these chromosomes.
Klinefelter Syndrome (KS) is a chromosomal abnormality in which a person has abnormal number of sex chromosomes, specifically, a male XY individual who has addition X chromosome, giving them genotype of 47 XXY.
The extra X chromosome in these individuals interferes with the normal development of male sexual characteristics, by causing reduced testosterone levels and impairing the normal functioning of testes.
Symptoms Of Klinefelter Syndrome
These are the sings of Klinefelter Syndrome.
KS affects the physical as well as the cognitive development and manifests as reduction in size of the testes and decreased testosterone.
Since testosterone regulates sexual development, a reduction in its levels leads to delay in onset of puberty, breast enlargement, reduced fertility and reduced body hair.
These patients are infertile and azoospermia is frequently seen.
In babies, KS manifests as muscle weakness and weaker bones.
During puberty, these children are taller than most of their peers and reduced testosterone levels make them appear less muscular, having sparse facial and body hair and broader hips
Adults with KS may begin suffering from health complications such as reduced intellectual abilities and may have distinctive facial features and speech impairment.
They may have altered body composition such as having increased body fat and decreased lean mass.they have lower muscle strength and low energy levels.
Risk Factors And Complications Of Klinefelter Syndrome
Increased age particularly maternal age is a risk factor for the development of KS. There is a higher risk of breast cancer in patients with KS. Disorders of endocrine system like diabetes mellitus and thyroid disorders are also associated with KS.
These patients are at risk of suffering from wide range of disorders like, ranging from, anxiety to heart and blood vessel diseases ,as well as pulmonary diseases. Moreover, autoimmune conditions like SLE, Sjogren’s syndrome and rheumatoid arthritis. Bone density disorders appear due to increased bone tissue resorption and decreased bone formation.
Diagnosis Of Klinefelter Syndrome
KS diagnosis begins with a physical examination where the characteristic signs are examined. The main tests that are done include blood tests for assessing hormone levels and chromosome analysis. Other non-invasive tests like analysis of cell free circulating DNA in the maternal blood are also available to be done prenatally.
Treatment Of Klinefelter Syndrome
Early diagnosis is very essential as it increases the scope of treating the major manifestations of KS like hypogonadism, gynaecomastia, and psychological problems.
Androgen replacement therapy is a major part of the treatment.
Testosterone can be started at puberty and doses decreased overtime.
Addressing cognitive and speech impairment is done with therapies.
Since most men who suffer from KS are infertile, use of Assisted Reproductive Technology(ART) and microsurgical techniques can help these father children. Genetic counseling is also considered worthwhile and plays an important part of treatment of KS.
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