Turner Syndrome

By : Siti Nurul Afiqah binti Johari10-5-95

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

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

Turner Syndrome Karyotype (45, XO)

Etiology

• Turner syndrome typically caused by nondisjunction

• Nondisjunction occurs when a pair of sex chromosomes failed to separate during formation of sperm (or egg)

• The result is either the sperm was missing an X or Y chromosome and then fertilized with a normal egg or;

• The egg was missing the X chromosome and fertilized with the sperm carried the X chromosome

Clinical features

X rays

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

Diagnosis

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 • Regular health checks• Almost all women are infertile, but pregnancy with donor

embryos may be possible