Turner's syndrome

Question 1

What is Turner syndrome?

Answer 1

45,X is a genetic condition in which a female is partially or completely missing an X chromosome

Question 2

What are signs and symptoms of Turner?

Answer 2

Short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth

Delayed or absent puberty, infertility

Question 3

How does Turner syndrome influence someone’s fertility?

Answer 3

Turner syndrome is characterized by primary amenorrhoea, premature ovarian failure (hypergonadotropic hypogonadism), streak gonads and infertility

Question 4

What are the complications of Turner syndrome?

Answer 4

Congenital heart disease: bicuspid aortic valves (30%), coarctation of the aorta (15%) , and abnormalities of the arteries in the head and neck

Diabetes

Low thyroid hormone

Question 5

How is turner diagnosed?

Answer 5

Physical signs, genetic testing

Question 6

How do you treat Turner syndrome?

Answer 6

No cure

1. Growth defect –> androgens
2. Estrogen replacement therapy

Question 7

What internal genitalia do people with Turner’s syndrome have?

Answer 7

Girls with Turner syndrome do not have ovaries but do have normal female external sex organs