Risk Taking Behaviour

Question 1

Give two disorders of ovarian development.

Answer 1

Ovotesticular DSD. Testicular DSD. Gonadal dysgenesis.

Question 2

What gene is responsible for both Ovotesticular DSD and Testicular DSD.

Answer 2

SRY gene.

Question 3

Disorders of Androgen excess can occur in 3 areas.

Answer 3

Fetal. Fetoplacental. Maternal.

Question 4

What hormone is responsible for Mullerian duct regression?

Answer 4

AMH.

Question 5

Give 2 things which characterize complete gonadal dysgenesis?

Answer 5

Very low testosterone. Internal organs derived from Mullerian ducts. Female external genitalia. Delayed puberty.

Question 6

Give 2 things which characterize partial gonadal dysgenesis?

Answer 6

Abnormal development of the testes. Low testosterone. +/- Mullerian structures. Ambiguous external genitalia.

Question 7

What does AIS stand for?

Answer 7

Androgen insensitivity syndrome. Insensitivity of androgen receptors.

Question 8

What is congenital adrenal hyperplasia?

Answer 8

Congenital adrenal hyperplasia is an inherited condition caused by mutations in genes that code for enzymes involved in making steroid hormones in the adrenal glands.

Question 9

How is AIS managed?

Answer 9

Gonadectomy, followed by hormonal replacement.

Question 10

Name 2 sex chromsome disorders.

Answer 10

Turner’s Syndrome and Klinefelter’ syndrome.

Question 11

5-alpha reductase deficiency is a disorder of androgen synthesis. What is its affect?

Answer 11

Internal genitalia male, but external female. During puberty increased androgen levels lead to virilisation.