Contributors: Mariah Rossi and Dr. Emran

Dr. Emran talks about 3 chromosomal disorders. All of these disorders have to do with the X and Y chromosomes which determine sex. Females are born with XX chromosomes and males are born with XY chromosomes. All eggs from the mother have X chromosomes and the sperm from the father provides either the X or Y chromosome.

The three disorders are Swyer Syndrome, Turner Syndrome, and Klinefelter syndrome.

Swyer Syndrome occurs when a person has XY chromosomes (which should be a genetic boy), but the external genitals are actually of a girl. In this case, the Y chromosome failed to turn the child into a boy. All embryos are assumed by the mother’s body to be female until the Y chromosome becomes active. The “SRY” part of the Y chromosome needs to become active in order for that embryo to become a boy. Swyer Syndrome affects 1 out of 80,000 people. This syndrome often causes fertility issues since they do not have ovaries and cannot produce eggs even though the person has a uterus. She may also have other maturation issues like the inability to develop breasts. While there is no cure for Swyer Syndrome, some issues can be managed by taking hormones. Furthermore, she can become pregnant if she has an egg donor and a doctor performs an egg transplant.

In Turner Syndrome, there is only 1 X chromosome with no corresponding X or Y. This is an XO combination and causes very noticeable features like a webbed neck, swelling of the legs, and short stature. It also causes a variety of health problems like heart defects, kidney problems, and chronic issues. Women who suffer from Turner Syndrome cannot become pregnant. Turner Syndrome is not genetic, but actually a random genetic mutation.

Klinefelter syndrome is a result of an extra chromosome where they have 47 Chromosomes instead of 46. This combination is XXY, and the child is born a boy. Physically they are very tall and a little clumsy. Emotionally they have many issues and suffer from social anxiety which causes poor performance in school or work. Many people end up in prison or other mental health institutions. Some of this comes from being a target of bullying which builds up aggression and may be a factor in the high incarceration rate. There is no cure, but many begin treatment to help with emotional problems and then address the secondary issues like heart problems.

All of these issues are chromosomal in nature. Dr. Emran urges those with friends or family who suffer from these problems to consult a genetic counselor. While there is no cure, there are a variety of methods to improve health and emotional concerns.

 

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