Disorders of Development

Question 1

What are the 3 disorders of ovarian development (46 XX DSD)?

Answer 1

Ovotesticular DSD. Testicular DSD. Gonadal dysgenesis.

Question 2

What are the 3 disorders of androgen excess (for females - 46 XX DSD)?

Answer 2

Fetal androgen excess. Fetoplacental androgen excess. Maternal androgen excess.

Question 3

What are the 3 disorders of testicular development (46 XY DSD)?

Answer 3

Complete and partial gonadal dysgenesis. Gonadal regression. Ovotesticular DSD.

Question 4

What are the 4 disorders of androgen synthesis/action (for males - 46 XY DSD)?

Answer 4

Disorder of androgen action. Disorder of androgen synthesis. LH receptor deficit. Anti-Mullerian hormone defects.

Question 5

Define Ovotesticular DSD.

Answer 5

Prescence of both ovarian and testicular tissue in the same individual. Determined by AMH production and Wolffian ducts.

Question 6

Define gonadal dysgenesis.

Answer 6

Any congenital developmental disorder of the reproductive system in the male or female. It is the defective development of the gonads in an embryo. Leads to delayed puberty/amenorrhea (absence of menstruation).

Question 7

What is problem with fetal and fetoplacental androgen excess?

Answer 7

Leads to external genitalia virilisation (development of male physical characteristics (such as muscle bulk, body hair, and deep voice) in a female.

Question 8

Define virilisation.

Answer 8

Development of male physical characteristics (such as muscle bulk, body hair, and deep voice) in a female.

Question 9

What is the difference between complete and partial gonadal dysgenesis (in males XY DSD)?

Answer 9

Complete - testes don’t develop. Partial - some development of testes.

Question 10

Give 2 features of XY DSD complete dygenesis.

Answer 10

Very low testosterone. Female external genitalia. Delayed puberty. Variants in SRY.

Question 11

Disorders of androgen action, is known as…

Answer 11

Androgen Insensitivity Syndrome.

Question 12

Give a feature of Complete Androgen Insensitivity Syndrome.

Answer 12

Testosterone converted to oestrogen. Normal breast development. Scant pubic hair.

Question 13

Give a feature of Partial Androgen Insensitivity Syndrome.

Answer 13

Present at puberty with gynaecomastia

Question 14

How is Complete Androgen Insensitivity Syndrome managed?

Answer 14

Some gonads are removed (gonadectomy). Hormones are replaced.

Question 15

A person can develop internal male genitalia and external female genitalia by the deficiency of which enzyme?

Answer 15

5 alpha reductase deficiency.

Question 16

Ovotesticular DSD can be caused by variants of what form?

Answer 16

SRY gene.

Question 17

Give 2 features of Turner Syndrome (X).

Answer 17

Short stature. Cardiac defects. Infertility.

Question 18

Give 2 features of Klinefelter Syndrome (XXY).

Answer 18

Learning problems. Speech delay. Small testes. Gynecomastia.