Klinefelters syndrome how is it diagnosed

Bearelly P, et al. Recent advances in managing and understanding Klinefelter syndrome. Ferri FF. In: Ferri's Clinical Advisor Elsevier; Hererra Lizarazo A, et al. Endocrine aspects of Klinefelter syndrome. Current Opinion in Endocrinology, Diabetes and Obesity. Wick MJ expert opinion. Mayo Clinic. Deng C, et al. Clinical application of noninvasive prenatal screening for sex chromosome aneuploidies in 50, pregnancies: Initial experience in a Chinese hospital.

Scientific Reports. Mayo Clinic Laboratories. Males with this condition have smaller-than-normal testicles that produce less testosterone. Testosterone is the male hormone that stimulates sexual traits like body hair and muscle growth.

A lack of testosterone causes symptoms like breast growth, a small penis, and less facial and body hair than normal.

Klinefelter syndrome can also delay speech and language development in male children. Testosterone levels by age ». In young children, the first sign is often a delay in speaking or learning. For example, a baby with Klinefelter syndrome might speak later than his peers. Men who only have an extra X chromosome in some of their cells will have milder symptoms. A smaller number of males have more than one extra X chromosome in their cells. The more X chromosomes they have, the more severe their symptoms will be.

Read more: 9 Signs of low testosterone in men ». Klinefelter syndrome is one of the most common chromosome conditions in newborns. It affects between 1 in and 1 in 1, newborn males. Variants of the disease with three, four, or more extra X chromosomes are less common. These variants affect 1 in 50, or fewer newborns.

Sometimes symptoms are so mild that they go unnoticed. Or symptoms can be misdiagnosed being caused by other similar conditions. Everyone is born with 23 pairs of chromosomes, or 46 chromosomes in total, inside each of their cells. It can be taken in the form of gels or tablets in teenagers, or given as gel or injections in adult men.

TRT may be considered once puberty begins and may help with the development of a deep voice, facial and body hair, an increase in muscle mass, reduction in body fat, and improvement in energy. There is also evidence that it can help with learning and behavioural problems. Long-term treatment during adulthood may also help with several other problems associated with Klinefelter syndrome — including osteoporosis, low mood, reduced sex drive, low self-esteem and low energy levels — although it cannot reverse infertility.

If you or your son has been diagnosed with Klinefelter syndrome, you might find it useful to find out more about it and get in touch with others affected by it. Page last reviewed: 20 May Next review due: 20 May Klinefelter syndrome. Klinefelter syndrome affects around 1 in every males. Symptoms of Klinefelter syndrome Klinefelter syndrome does not usually cause any obvious symptoms early in childhood, and even the later symptoms may be difficult to spot.

Many boys and men do not realise they have it. You can message your clinic, view lab results, schedule an appointment, and pay your bill. Klinefelter syndrome usually is not diagnosed until the time of puberty. At this point, the boy's testicles fail to grow, and you may start to notice other symptoms. To find out if your son has Klinefelter syndrome, your doctor will ask questions about his past health, do a physical exam, and order tests, such as a hormone test and chromosome analysis.

Sometimes Klinefelter syndrome is found before a baby is born prenatally. Genetic tests on cells collected from amniocentesis or chorionic villus sampling CVS can show when a baby boy has Klinefelter syndrome. So the condition may be found when a pregnant woman has genetic tests for another reason.

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