Genetic diseases (Klienfelter;s syndrome, Turner's syndrome and Cystic fibrosis)

Is it a gene or chromosome mutation?

Klinefelter's syndrome is a chromosomal abnormality in which a male has one or more extra X chromosomes in his cells. This results in a chromosome compliment of XXY or in even more rare cases XXXY or XXXXY etc. Sufferers will develop small testes and will experience fertility problems as well as behavioral and physical differences.

What are the symptoms?

Symptoms vary in severity. The condition often goes unnoticed until puberty, males may develop gnaecomastia and the testes remain small.

Affected males usually are infertile due to azoospermia. Sufferers are generally tall and thin and their body type usually resembles the body of a female. Mental retardation is common amongst people with Klienfelter's syndrome.

What is the prognosis?

Most men with the condition are able to lead normal lives with the exception that they will be sterile and that they will be more susceptible to certain diseases such as arthritis, epilepsy, and osteoparosis. Recent research has revealed that men with Klinefelter's have a slightly shortened life span to men without the syndrome.

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Have any famous people had the disease?

N/A

How many people get it (incidence rate)?

Klinefelter's syndrome affects about one in every five hundred male infants born. The chances of having the condition increase with maternal age. There seems to be no relationship between rates of occurrence to specific ethnic groups and the condition affects males from all ethnic groups equally.

Does it affect males or females or both?

Kleinfelter's syndrome affects males only.

It is a chromosomal mutation that results in an extra X chromosome being present

Possible cures?

There is no current cure for Klinefelter's syndrome. A Mastectomy may be performed to reduce breast tissue if gnaecomastia causes social and physiological issues for sufferers. Hormonal treatments may be utilized to encourage the development of secondary sex characteristics. Parents who have an affected child should receive some form of genetic counseling.

Turners syndrome

Is it a gene or chromosomal mutilation?

Turner's syndrome is a chromosomal mutation that affects only females. The chromosome mutilation may occur in three ways. Most affected females have 45 chromosomes, the missing chromosome being one of the X chromosomes. However, in some cases both X chromosomes are present but the one is faulty. In rarer cases the condition is a type of mosiacism which means that while some cells are missing an X chromosome other cells have extra chromosomes and others have the normal amount of 46 chromosomes.

What are the symptoms?

Sufferers tend to be short in stature, have webbed skin on the neck and a complete absence or retarded development of secondary sex characteristics. Amenorrhea as well as coarctation of the aorta is also common along with abnormalities of the eyes and bones and varying degrees of mental retardation.

What is the prognosis?

The prognosis for sufferers can be good as long as the patient's health is constantly monitored in order to diagnose and treat problems and complications that may arise due to the nature of the condition i.e. (heart problems, kidney defects, hearing loss etc). Women can expect to lead full and active lives with the exception that they are infertile, life expectancy is not affected.

Have any famous people had the disease?

Linda Hunt, most known for her roles in films like The year of living dangerously and Kindergarten cop. She is still the only actress ever to have won an Oscar for playing a character of the opposite sex.

How many people get it (incidence rate)?

The incidence rate of Turner's syndrome is approximately one in every two thousand five hundred births. The risk factors for the development of Turner's syndrome are still unknown. There is a chance that there is a genetic predisposition that causes the mutations but this theory has been scrutinized by medical professionals. There is no known cause for Turner's syndrome.

Does it affect males or females or both?

Turner's syndrome affects females.

Possible cures?

There is no current cure for Turner's syndrome, however; there are treatments that can be beneficial to people who suffer from the condition. Treatments include growth hormone which aims at improving growth and increases adult final height, Estrogen replacement therapy - stimulates development of secondary sex characteristics, cardiac surgery to treat any heart defects as well as newly developed reproductive technologies which assist women in becoming pregnant.

Cystic fibrosis

Is it a gene or chromosomal mutation?

Cystic fibrosis is an inherited disease that is present from birth and it is associated with susceptibility to lung infections and the inability to absorb fat from food. The defective gene (recessive) results in the body producing a thick, sticky mucus which blocks the lungs and as well as the pancreas which leads to life threatening problems such as chronic lung infections and the inability of the body to break down essential nutrients and fats.

What are the symptoms?

Symptoms vary considerably amongst different individuals; in some cases the disease is obvious straight after birth, whereas, other sufferers live on for months or years without exerting obvious symptoms. Symptoms include; stunted growth, frequent chest infections, breathlessness, constant coughing, pneumonia, bronchitis, very salty tasting skin and even infertility problems occur amongst male sufferers.

What is the prognosis?

The severity of cystic fibrosis varies significantly from person to person, the severity is determined mainly by the extent of damage caused to the lungs, however, deterioration is unavoidable thus resulting in debility and ultimately death. Modern treatments have the ability to postpone changes that happen in the lungs. Fifty percent of people with Cystic fibrosis live over twenty eight years. Long-term survival is to some extent better in males and in people who don't have pancreatic problems, as well as people whose early symptoms are limited to the digestive system. Regardless of their many problems, people with cystic fibrosis regularly go to school or work until shortly before death. Gene therapy holds great promise for treating cystic fibrosis in the future.

Have any famous people had the disease?

Lisa Bentley - Canadian Iron man triathlete.

Fraser Brown - Son of the UK Chancellor Gordon Brown.]

Alexandra Deford - Daughter of sports writer Frank Deford,

Gunnar Esiason - Son of former football player Boomer Esiason.

Bob Flanagan - American writer, poet, performance artist, and comic.

Gr�gory Lemarchal - French singer.

Alice Martineau- British singer-songwriter and model.

LivingAndrew Simmons - Professional wrestler.

How many people get it (incidence rate)?

Cystic fibrosis is listed as a rare disease and it has an incidence rate of about one in every two thousand. There are about three thousand babies born a year with Cystic fibrosis in the United States. Amongst Caucasians, Cystic fibrosis is one of the most lethal genetic diseases and affects about one in every three thousand babies born. The incidence rate is the lowest in Africans and Asians with an incidence rate of one in every seventeen thousand births. There have been estimated to be about twelve million carriers in the US alone.

Does it affect males or females or both?

The disease can affect both male and females and it occurs evenly between the sexes.

Possible cures?

There is no cure for Cystic fibrosis but great strides have been made in the field of gene therapy as well as the development of new drugs and antibiotics which have helped reduce lung damage and other problems that are associated with the disease. Current treatments allow medical staff to control the symptoms which include supplementing patients with a special enzyme called pancreatin which helps digest food as well as administering regular doses of antibiotics to reduce the occurrences and severity of chest infections. Daily physiotherapy is also helpful as massaging the chest helps loosen the mucus. In really severe cases the patient may require a heart or lung transplant.