Severson's abnormal genital development; 4.7 Flashcards Preview

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Flashcards in Severson's abnormal genital development; 4.7 Deck (21):
1

What causes Klinefelter syndrome?

Non-dysjunction of the XX homologues → 47, XXY

2

What is seen with Klinefelter syndrome?

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

3

What is seen with Turner syndrome?

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

4

What causes Turner syndrome?

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

5

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

Both testicular and ovarian tissue (46, XX)

6

What happens with cryptorchidism?

The testicle gets "stuck" on its descent

7

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

The inguinal canal

8

What causes an incomplete congenital inguinal hernia?

Obliterated portion of processus vaginalis

9

What causes a complete congenital inguinal hernia?

Unclosed processus vaginalis

10

What is seen with complete congenital inguinal hernias?

Cryptorchidism

11

What causes a hydrocele?

Obliterated portions or unclosed processus vaginalis

12

What is seen with a male pseudohermaphrodite?

Reduced masculine development of the genitalia

13

What might be the cause of male pseudohermaphroditism?

Inadequate amount of testosterone or Mullerian inhibiting substance

14

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

Hypospadias

15

What causes hypospadias?

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

16

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

Epispadias

17

What is associated with epispadias?

Exstrophy of the bladder

18

What happens with Congenital Adrenal Hyperplasia (CAH)?

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

19

What is seen with CAH?

Severe clitoral hypertrophy
Fusion of labia

Female internal organs

20

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

Ineffective (lack of) testosterone receptors

21

What is seen with AIS?

Female pseudohermaphroditism (46, XY)

Normal female externally, but have internal testes