The usual pattern of chromosome in human males and females is XY and XX respectively. But some human males are born with an extra X chromosome in their cells, an aberration to the usual pattern. This chromosomal disorder which affects only males is called Klinefelter’s Syndrome. This condition was first identified in 1942. It was described by Harry Fitch Klinefelter, Jr., an American physician after whom this disorder has been named. Klinefelter’s syndrome is the most common sex chromosome disorder found to exist in 1 out of every 500 males, approximately. Women, who have
late pregnancies i.e., after 35 years of age, are more at risk of having a boy with this than younger women.
Symptoms of this disorder are varied and it is not that every affected person will have all. Persons affected by Klinefelter’s Syndrome appear normal at birth with normal genitalia present. As babies they may crawl or walk later than other babies owing to weak muscles and reduced strength but in childhood, they are taller and have longer limbs than in the normal situation. There may also be some degree of language learning impairment present in the affected person.
Many are reported to have a mild tremor, an uncontrolled shaking while they may also have poor upper body strength, thus, rendering them clumsy. In adults the symptoms can be anything from a lanky, youthful appearance to a rounded body shape with increased breast tissue (gynecomastia) though the most common symptom is infertility. Other symptoms may include small, firm testicles, small penis or less than the normal amount of hair in the pubic region, armpit and on the face.
Though patients may tend to be quiet, undemanding and shy in their childhood, they can live normal lives like other men without the condition. It is very important to start treatment as early as possible to help them have normal sex lives, social relationships and successful careers. Though the genetic variation is irreversible there are treatments available which include the following:
Medical treatments like Testosterone treatment, Mastectomy for gynecomastia.
Speech and physical therapy
Psychiatric consultation during adolescence