Common symptoms of Klinefelter syndrome

Klinefelter syndrome is the most common sex chromosome disorder in males. . Typical clinical features of Klinefelter syndrome are various degrees of hypogonadal symptoms, atrophic testes and gynaecomastia.

Klinefelter syndrome, 47,XXY (KS), occurs in about 150 per 100,000 males and is the most frequent chromosomal aberration in males.

Boys with Klinefelter syndrome are often taller than average. Some may have some learning difficulties, particularly in the area of communication and language. The help of a professional psychologist may be needed to assess the degree of learning difficulty and to advise on strategies for dealing with this.

As the boys reach teenage years, they tend to have relatively long legs in relation to the trunk, rather slender muscles and relatively wide hips, although a completely normal appearance is also common. The testes are small from birth and grow relatively little during puberty, even if other development is normal.

Many physical symptoms of Klinefelter syndrome result from low testosterone levels in the body. Individuals with Klinefelter syndrome tend to have anxiety, depression, impaired social skills, behavioral problems such as emotional immaturity and impulsivity, attention-deficit/hyperactivity disorder (ADHD), and limited problem-solving skills (executive functioning). About 10 percent of boys and men with Klinefelter syndrome have autism spectrum disorder.

The clinical manifestations of the Klinefelter syndrome may be due to hypogonadism caused by the disease, or directly due to chromosomal abnormalities. Symptoms vary depending on the period of the age of the patients.

Nearly half of all men with Klinefelter syndrome develop metabolic syndrome, which is a group of conditions that include type 2 diabetes, high blood pressure (hypertension), increased belly fat, high levels of fats (lipids) such as cholesterol and triglycerides in the blood.

The so-called Klinefelter clinical syndrome was first defined in 1942 by Harry Klinefelter and his colleagues by showing the elevated excretion of urine FSH on 9 male patients who had small testes, gynecomastia and no ability of spermatogenesis.
Common symptoms of Klinefelter syndrome