Parenting Health Special Needs

Klinefelter Syndrome - Symptoms, Risk Factors, Diagnosis & Treatment

Dr Surbhi Saini
0 to 1 years

Created by Dr. Surbhi Saini
Updated on Nov 29, 2018

Klinefelter Syndrome Symptoms Risk Factors Diagnosis Treatment

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.

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

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.

Hope this blog was helpful to you. Drop a line in the comments secton in case you have a query on this.

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