Turner’s Syndrome By: Chris Beene

What is it, Henry Turner?

• A chromosomal disorder that alters growth and development in females.

• Women with turner’s syndrome tend to be shorter then average and are likely infertile.

• Turner was an endocrinologist who first described the disorder in 1938

• First case was in 1959

How?

• Female = XX , Turners syndrome (X – O) Male = XY• In most cases the cause of the abnormality is

the inactive X chromosome.• It is also possible that during meiosis part of,

or all of the X chromosome is dropped

Mutation

• Turners syndrome cannot be inherited, therefore it wont be passed down to future generations.

• A chromosomal disorder. ( X chromosome ) • This condition has a karyotype of 45,X.

Karyotype

Diagram

Effects

• Non-working ovaries • Amenorrhea – absence of the menstrual cycle• Hypothyroidism - reduced hormone secretion

by the thyroid • Diabetes• Vision / hearing issues • Slight memory issues

Diagnosis and treatment

• Turner syndrome is diagnosed by a series of blood tests.

• A diagnosis might also take place because of an abnormal amniocentesis during prenatal testing.

• NO CURE!!! • Growth hormones can be taken to minimize

symptoms, (androgen).

Bibliography

• http://www.dshs.state.tx.us/birthdefects/risk/risk25-turner.shtm

• http://www.medicinenet.com/turner_syndrome/article.htm

• http://www.webmd.com/baby/guide/amniocentesis