Klinefelter’s Syndrome

Chromosomes and Cell Development

The body is made up of cells and in each cell there are 46 chromosomes. Each individual chromosome consists of DNA, RNS and protein. DNA or deoxyribonucleic acid is a molecule that has a set of rules and instructions for the functioning and development of every living thing. RNA or ribonucleic is many biological molecules that are responsible for creating vital roles within genes and proteins are vital for performing functions and support to the DNA structure within a living entity.

The human body consists of between 50 trillion to a 100 trillion cells which give the foundation to human life and inside each cell genes are formed to instruct the cell on which aspect and function of the body it will be part of. Chromosomes are arranged in pairs of 23, each human being is given a chromosome from their mother and one from their father with one of the chromosomes determining the sex. In short a female will have 23 pairs of chromosomes all consisting of XX while a male will have 23 pairs of chromosomes consisting of XY. It is the male’s chromosome that will determine the actual sex whether male or female, the female chromosome that is inherited will be X and the chromosome that is inherited through the father will be X or Y, X for a female and Y for a male.

Klinefelter’s Syndrome (KS)

When the organisation of a chromosome is not XX or XY then there may be a syndrome present. A syndrome can be referred to as a medical condition when a group of characteristics are formed that equal a specific medical disorder. Klinefelter’s syndrome is when a male is given an extra X chromosome so instead of having 46 XY as a male, males who suffer with Klinefelter’s syndrome may have 47XXY chromosomes. The present of the extra X chromosome interferes with how the male develops. In some affected males only some of the chromosomes are affected, there is an extra copy of the X chromosome in some cells while in other cells just XY are present, this is known as mosaic KS. Males who have mosaic KS may only be slightly affected by the condition depending on how many cells are affected. While others who have KS may have multiply copies of both X and Y chromosomes in each cell, they may have 48 XXYY or 48 XXXY. These formations are rare but in those affected the symptoms are far worse.

The condition affects the male’s physical, sexual and cognitive development. Affected males who have the condition usually have small testes and do not produce the usual amount of testosterone as other males who have XY chromosomes. Testosterone is responsible for the sexual development of a male before birth and during puberty. If the right amount of testosterone is not present the male will not develop as other males, they may have a reduction in bodily hair, they may form enlarged breasts and it could cause infertility. There may be differences in the genital area including testes that are small than other males or ones that have not descended, there may be an opening underneath the penis and the penis may be considered small.