Short Note on Klinefelter’s Syndrome

Chromosomal disorders are disorders of the chromosome. They are mainly of two types: structural disorders and numerical problems. Numerical disorders are of two types: trisomy and monosomy. Klinefelter’s syndrome is one such Trisomy of the extrachromosomal path. It is a chromosomal disease in which both parents are responsible for causing it. 

By looking at the patient’s external genitalia, the gender is male is designated as the patient has testis. Thus, it is predominantly a male patient. But because it's Kleinfelter’s syndrome, this Male Patient has an Extra X Chromosome.

Therefore, The total number of chromosomes is 47 XXY, if there is only one X chromosome extra.

In Klinefelter's syndrome, mental retardation is directly dependent on the number of X chromosomes that is more the number of X chromosomes, more the mental retardation.

The disease could be either from maternal or paternal origin. But most commonly, it is of maternal origin.

The affected offspring will have clinical features like mental retardation, a decrease in secondary sexual characteristics, and Hypogonadism (testes are not normally developed). These individuals will be tall in stature.

There are some important complications of this disease, starting off with cancer. The most common cancer in Klinefelter’s syndrome is Male Breast Cancer. There could be a Germ cell tumor-like Teratoma and Seminoma present extra Gonadally(other than the testis) in the individuals. Germ cell tumors and well as extragonadal germ cell tumors are both seen as complications of this syndrome.

A very famous Indian cricketer was diagnosed with a seminoma of the mediastinum. It becomes important to mention that this extragonadal germ cell tumor can occur independently of Klinefelter's syndrome.

Mitral Valve Prolapse (MVP) can also be seen as a complication.

Klinefelter’s syndrome is associated with Autoimmune Disorder like Systemic lupus erythematosus (SLE).

The severity of SLE is directly related to the number of X chromosomes present in the numerical chromosomal disorder.

Endocrinologically speaking, the hormones in this disorder will be deranged. Testosterone Levels are decreased compared to a normal male. Female hormone like Luteinizing Hormone is Decreased, and Follicular Stimulating Hormone is increased.

As we are reading about chromosomal disorders, it is important to discuss the concept of Barr bodies.

Barr Bodies are condensed and inactivated X chromosomes. Number of Barr body = Number Of X chromosome-1. Klinefelter's (47XXY) has 1 Barr body. For Klinefelter with genotype 48XXXY) there are 2 Barr bodies.

Also Read: Metastatic Cancer: Symptoms, Causes and Treatment

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