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The geneticist explained the connection of high growth and male infertility

Geneticist Zakharzhevskaya: high height may be a sign of Klinefelter syndrome
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Photo: Global Look Press/Sina Schuldt
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Tall stature, long limbs and delayed speech development in some cases may be signs of Klinefelter syndrome, one of the most common chromosomal disorders in men, leading to infertility. Natalia Zakharzhevskaya, a leading geneticist at the Hemotest laboratory, told about this on July 4.

"Klinefelter syndrome occurs in about one boy per 500-600 newborns. However, less than half of the cases are recognized on time. Many men learn about their diagnosis only in adulthood, when they come to be examined for infertility," Zakharzhevskaya said.

The expert noted that the syndrome is formed accidentally due to an error in the division of germ cells and is not related to heredity or the lifestyle of the parents. In childhood, the signs are often poorly expressed and may include delayed motor and speech development, difficulty concentrating and learning, with preserved intelligence in most patients.

The most pronounced symptoms appear in adolescence and include tall stature with disproportionately long limbs, poorly developed muscle mass, narrow shoulders and possible enlargement of the mammary glands.

"In Klinefelter syndrome, there is an accidental malfunction in this mechanism. During the formation of an egg or sperm, the sex chromosomes diverge incorrectly, and as a result, the unborn child receives an extra X chromosome," Zakharzhevskaya explained.

She added that in adulthood, infertility becomes a key manifestation, as well as symptoms of testosterone deficiency, including decreased libido, fatigue, and metabolic changes. According to the specialist, the diagnosis is carried out using karyotyping, and the detection of the syndrome is also possible at the stage of pregnancy using a non-invasive prenatal test.

The geneticist stressed that it is impossible to completely eliminate the genetic cause of the disease, but hormone replacement therapy can compensate for the consequences and significantly improve the quality of life of patients.

In the recommendations of the Ministry of Health of the Russian Federation on reproductive medical examination on March 26, it was reported that the chance of having a live child at the age of the future father over 35 is two times lower than in younger men, even when using in vitro fertilization (IVF). The most important aspects of maintaining a man's reproductive health are the timely detection of diseases and a comprehensive assessment of the condition.

Переведено сервисом «Яндекс Переводчик»

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