Severson's abnormal genital development; 4.7

Question 1

What causes Klinefelter syndrome?

Answer 1

Non-dysjunction of the XX homologues → 47, XXY

Question 2

What is seen with Klinefelter syndrome?

Answer 2

Infertility
Gynecomastia
Impaired sexual maturation (atrophic testes, small penis, and lack of secondary male characteristics)

Question 3

What is seen with Turner syndrome?

Answer 3

Short stature
High arched palate
Webbed neck
Shield-like chest
Inverted nipples
Cardiac and renal anomalies

Question 4

What causes Turner syndrome?

Answer 4

Lack of paternal sex chromosome (45, XO) → failure of ovaries to develop and infantile genitalia

Question 5

True hermaphroditism is a very rare condition. What is needed to be a true hermaphrodite?

Answer 5

Both testicular and ovarian tissue (46, XX)

Question 6

What happens with cryptorchidism?

Answer 6

The testicle gets “stuck” on its descent

Question 7

Where is a testicular most likely to get stuck with cryptorchidism?

Answer 7

The inguinal canal

Question 8

What causes an incomplete congenital inguinal hernia?

Answer 8

Obliterated portion of processus vaginalis

Question 9

What causes a complete congenital inguinal hernia?

Answer 9

Unclosed processus vaginalis

Question 10

What is seen with complete congenital inguinal hernias?

Answer 10

Cryptorchidism

Question 11

What causes a hydrocele?

Answer 11

Obliterated portions or unclosed processus vaginalis

Question 12

What is seen with a male pseudohermaphrodite?

Answer 12

Reduced masculine development of the genitalia

Question 13

What might be the cause of male pseudohermaphroditism?

Answer 13

Inadequate amount of testosterone or Mullerian inhibiting substance

Question 14

What is it called when the urethra opens on the ventral surface of the penis?

Answer 14

Hypospadias

Question 15

What causes hypospadias?

Answer 15

Inadequate androgen (likely) → failure in fusion of urogenital folds and/or failure of epithelial cord to join with the spongy urethra

Question 16

What is it called when the urethra opens on the dorsal surface of the penis?

Answer 16

Epispadias

Question 17

What is associated with epispadias?

Answer 17

Exstrophy of the bladder

Question 18

What happens with Congenital Adrenal Hyperplasia (CAH)?

Answer 18

CAH → increased androgenic hormones → female pseudohermaphroditism (46, XX)

Question 19

What is seen with CAH?

Answer 19

Severe clitoral hypertrophy
Fusion of labia

Female internal organs

Question 20

What causes Androgen Insensitivity Syndrome (AIS)…AKA Testicular Feminization Syndrome?

Answer 20

Ineffective (lack of) testosterone receptors

Question 21

What is seen with AIS?

Answer 21

Female pseudohermaphroditism (46, XY)

Normal female externally, but have internal testes