Saira Sarwar Fatima Zaidi

 Turner syndrome results when one of a female’s sex chromosomes (an X chromosome) is missing or structurally altered. This results in loss of genetic material from one of the chromosomes.  Turner Syndrome can also occur when a sex chromosome is partially missing or rearranged.  Most cases of Turner Syndrome are not inherited. Instead, this chromosome abnormality can occur randomly during the formation of reproductive cells during cell division.

 Turner Syndrome is the absence or alteration of an X chromosome or part of an X chromosome.

Turner Syndrome Karyotype Missing X Chromosome

 Turner Syndrome affects a girl’s growth and sexual development  Short, stocky stature (avg. height of untreated woman is 4 ft. 8 inches)  Arms that turn out slightly at the elbow  Developmental Delays  Ovarian failure  Extra folds of skin on neck (webbed neck)  Low hairline at the back of neck  Puffiness and Swelling of hands and feet (lymphedema)  Skeletal abnormalities  Kidney Problems  Heart Defects or problems  Infertility  Dry Eyes  Low set ears  Under-active thyroid  Problems with breast development

An newborn baby girl with Turner Syndrome, with the characteristic webbed neck and low hairline that is common in this condition.

 This disease only affects women. Women have a hard time dealing with this, and it can be hard for them to find a partner that won’t mind this disease.  Since Turner Syndrome isn’t hereditary, families of girls with this disease may not have any idea, at first, how to treat it or deal with it. In this way, it can be challenging for families.  Mostly life is pretty normal for them. They just have to live with frequent doctor's visits and check-ups. Young girls with Turner Syndrome also have to take growth hormones such as estrogen and endure a schedule of shots to treat this condition.  Women with Turner Syndrome also sometimes have difficulty with math, but they may have an advanced vocabulary.

 Unfortunately, there is no known way to prevent Turner Syndrome at this time.  Turner Syndrome also has no known cure. However, there are a variety of treatment options such as taking medications and growth hormones prescribed by doctors, undergoing surgery, getting regular screenings by doctors and also seeking support and counseling.  There are two different kinds of medication given to treat Turner Syndrome. One kind of medication used is to increase the growth rate, and also helps them to become taller, since the normal height of women who have this disease is only around four feet. And the other medication is estrogen, which is the female growth hormone. another female hormone that can also be given is progesterone, which helps them have normal monthly menstrual cycles.  People with Turner Syndrome also have an increased risk of developing certain diseases and potentially harmful conditions, such as high blood pressure. To keep these in low risk, doctor’s would recommend regular check ups and appointments, as well as treating the disease as soon as it is diagnosed. The earlier, the better.

A girl with Turner Syndrome, before and after her operation for correction of a webbed neck.

 Turner Syndrome was named after founder Dr. Henry Turner, an endocrinologist. He recognized a pattern of short stature and incomplete sexual maturation in otherwise normal females and published a report describing this syndrome in  The first patient that was diagnosed with Turner Syndrome was a 14 year old girl in 1959, by a team of doctors. A report was published on this girl and this became the first published report of a female lacking a chromosome.

 Famous people with Turner Syndrome include:  Actress Linda Hunt  Renowned Gymnast Missy Marlowe

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