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What is Klinefelter syndrome?

Klinefelter’s syndrome is a genetic pathology of men, which is based on endocrine disorders caused by additional female chromosomes in the set of sex chromosomes. This is a fairly common genetic disease. According to statistics, 0.2% of men are susceptible to it, and among endocrine disorders, Klinefelter syndrome occupies the third line (diabetes comes first, thyrotoxicosis comes second). But according to the same statistics, only 50% of cases are diagnosed.

A bit of genetics
Chromosomes are structures contained in the nucleus of a cell that carry hereditary information. A person has 46 chromosomes, of which 44, or 22 pairs, are the so-called somatic chromosomes, and one pair is sexual, which determines the sex of the individual. It is the composition of sex chromosomes that distinguishes a man from a woman. In the normal chromosome set of a woman, there are two X chromosomes – XX, in a man this set contains one X and one Y chromosome – XY.

Causes of Klinefelter Syndrome
The basis of this genetic disease is the presence of extra female sex chromosomes in the male chromosome set. It can be one (ХХY) – the classic version, two (ХХХY) and even three additional X-chromosomes (ХХХХY). But despite the extra female chromosomes suffering from this syndrome, they remain men, since they always have a male chromosome.

The result of excess X chromosomes is the lack of testicular function, that is, insufficient formation of male sex hormones in them.

Klinefelter’s syndrome is not inherited, if only because its carriers, as a rule, are completely infertile. An anomaly appears in the early stages of sperm and egg formation, and the causes of this phenomenon have been little studied.
Manifestations of Klinefelter’s syndrome
Most genetic diseases are already apparent in infancy, and sometimes during fetal development. In the case of Klinefelter’s syndrome, pregnancy in a woman proceeds normally; no signs of pathology are observed in young children.

The very first evidence of the syndrome can be found in a boy aged 6–8 years. Such children have high stature, long limbs, and a high waist. In addition, they may have some mental retardation. They hardly perceive information by ear, it is difficult for them to express their thoughts.

More obvious signs of the disease are found in adolescence.

It:

gynecomastia – breast enlargement;
underdevelopment of the testicles, they are small and hard;
weak hair growth on the face and chest;
pubic hairline is horizontal (female type), and not diamond-shaped (male type).
All male sex hormones suffering from Klinefelter’s syndrome are not produced enough, but to a different degree: some young men suffer from low potency, decreased sex drive, some have no sex at all, others get married and have no problems in sex life.

But all men with Klinefelter’s syndrome suffer from infertility, as there is no sperm in their seminal fluid.

Associated pathologies
The lack of male sex hormones affects not only reproductive function. It leads to metabolic disorders, which is manifested by obesity and non-insulin-dependent diabetes mellitus. Due to the lack of androgens, patients are characterized by weak muscles, brittle bones (osteoporosis).

In men suffering from this pathology, autoimmune diseases are more common.

Psyche and intellect
As a rule, patients with Klinefelter’s syndrome are timid, sensitive people with reduced self-esteem. They often become alcoholics and drug addicts, among them people with non-traditional sexual orientation are more common. True, it is not clear whether these features and tendencies are associated with an extra chromosome or are they an answer to sexual problems.
As for intellectual abilities, among patients there are people with a fairly low intelligence, and with an IQ that exceeds average values. But all suffering from this chromosomal pathology experience problems with auditory perception of information and speech.

Diagnosis and treatment of Klinefelter syndrome
The pathology is diagnosed by a blood test for male sex hormones and chromosome analysis.

If the disease is mild, its only sign is infertility and no special treatment is required.

If the signs of the disease are significantly pronounced and the man cannot lead a sexual life, he will be prescribed lifelong hormone replacement therapy with testosterone. Sometimes, if the mammary glands are greatly enlarged and cause psychological trauma, they are removed surgically.

Sometimes in severe cases, patients have to resort to the help of a psychologist or psychotherapist.

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