Turner syndrome

Assignments

1. Turner Syndrome By : Siti Nurul Afiqah binti Johari 10-5-95

2. History Turner Syndrome is named after an endocrinologist named Henry Turner who first described it in 1938 He described 7 patients between the ages of 15 and 23 who were referred to him for dwarfism and lack of sexual development

3. Turner Syndrome Turner syndrome is a chromosomal condition related to X chromosome that alters development in females This condition occurs in about 1 in 2500 female births worldwide, but is more common among pregnancies that do not survive to term

4. Turner Syndrome Karyotype (45, XO)

5. Etiology Turner syndrome typically caused by nondisjunction Nondisjunction occurs when a pair of sex chromosomes failed to separate during formation of sperm (or egg)

6. The result is either the sperm was missing an X or Y chromosome and then fertilized with a normal egg or; T he egg was missing the X chromosome and fertilized with the sperm carried the X chromosome

7. Clinical features

8. X rays

9. Diagnosis About half of cases are diagnosed within the first few months of life by characteristic symptoms Other patients are diagnosed in adolescence because they do not grow normally or go through puberty

10. Diagnosis

11. Treatment Growth hormone injections (time, use) Estrogen replacement therapy (time, uses), later on estrogen & progesterone are given Babies with heart problem may need surgery or the cardiologist should assess and follow up any treatment if needed Any middle ear infections should be treated Routinely checked of blood pressure and treated with medication if necessary R egular health checks Almost all women are infertile, but pregnancy with donor embryos may be possible