197/198/199 - UG Development, Congenital Anomalies, Sexual Differentiation Flashcards Preview

Repro/GU by Minnie (she/her) > 197/198/199 - UG Development, Congenital Anomalies, Sexual Differentiation > Flashcards

Flashcards in 197/198/199 - UG Development, Congenital Anomalies, Sexual Differentiation Deck (58)
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1

C - congenital adrenal hyperplasia due to 21-alpha-hydroxylase deficiency

 

  • Testicular DSD will have male external genitalia
  • In partial androgen insensitivity syndrome, gonads are present; will not have XX karyotype

 

2

Describe the presentation of posterior urethral valves

  • Prenatal
    • Bilateral hydronephrosis
    • Thick-walled bladder
    • Oligohydraminos
  • Post-natal
    • UTI
    • Renal insufficiency
    • Pulmonary insufficiency
    • Incontinence
    • Poor urinary stream

 

 

3

What is the role of sertoli cells in sexual differentiation?

Produce AMH -> regression of mullerian ducts

4

E - posterior urethral valves

5

Which primordial tissue gives rise to the kidney nephrons?

Metanephric mesoderm

6

Which indifferent-stage structure gives rise to the prostate and prostatic urethra in 46, XY individuals?

What is the corresponding structure in 46, XX individuals?

Urogenital sinus

 

Lower vagina and urethra in 46, XX individuals

7

Why is testosterone elevated in 21-alpha-hydroxylase deficiency?

Normally, 21-alpha-hydroxylase turns 17-OH-progesterone into 11-deoxycortisone

 

Without 21-alpha-hydroxylase, 17-OH-progesterone is shunted towards the testosteone synthesis pathway -> increaesed testosterone

8

In females, the secondary sex cords will give rise to which adult structure?

What kind of cells is this structure composed of?

Ovarian follicles

Ovum surrounded by epithelium of granulosa cells

 

Note: Primary sex cords persist as nonfunctional/vestigial rete ovarii

9

What is the most common congenital cystic kidney disease?

Multicystic dysplastic kidney

10

Where in the male is junction of the urethra derived from the urogenital sinus and surface ectoderm?

 

A. Urinary bladder and prostatic urethra

B. Beginning of the penile urethra

C. Proximal and distal halves of the penile urethra

D. Penile urethra and navicular fossa in the glans

E. Penile urethra and distal epidermis of the glans

D. Penile urethra and navicular fossa in the glans

11

Where in the adult female is the junction of derivatives of the paramesonephric ducts and urogenital sinus?

 

A. Uterine tubes and uterus

B. Uterine fundus and cervix

C. Uterus and vagina

D. Middle of the vagina

E. Vagina and vestibule

D. Middle of the vagina

12

Describe the internal and external genitalia that result from complete androgen insensitivity syndrome in a 46, XY individual

Testosterone present, but receptors non-functional

  • Internal
    • Testes, often undescended
    • AMH secreted -> no uterus or Mullerian structures
  • External
    • No testosterone action -> female external genitalia
    • Testosterone aromatized to estrogen -> breast development

 

Often presents in a female-presenting individual with primary amenorrhea 

5-alpha-reductase deficiency will have female external genitalia but then development of male structures in puberty 2/2 increased testosterone

13

In a ureteral duplication:

  • Which ureter is more likely to develop obstruction?
  • Which is more likely to develop reflux?

  • Obstruction: Ureter from upper moiety
    • Inserts inferiorly and medially in the bladder
    • Also more likely to have ectopic ureter, ureterocele 
       
  • Reflux: Ureter from lower moiety
    • Inserts laterally and superiorly in the bladder
    • In general, this is more anatomically normal

 

14

Which 2 embryonic primordia form the male urethra?

  • Urogenital sinus (endoderm) -> proximal majority
  • Navicular fossa (ectoderm) -> distal end

 

Failure of fustion = hypospadias; opening on the ventral surface

15

A woman is infertile because of an absence of ova.  Where might primordial ova have failed to differentiate?

 

A. Genital ridge mesoderm

B. Primary sex cords

C. Hindgut endoderm

D. Secondary sex cords

E. Paramesonephric duct

C. Hindgut endoderm

 

Primordial germ cells orginate in the hindgut, then migrate to the genital ridge

Sex cords give rise to the epithelial components of the gonads only

16

What is most common cause of ureteropelvic junction obstruction that is...

  • Intrinsic:
  • Extrinsic:

  • Intrinsic: Aperistaltic segment
    • Most common overall cause of UPJ
       
  • Extrinsic: Crossing vessels

 

17

Which cells produce anti-mullerian hormone?

Sertoli cells

 

No gonads/streak gonad -> no Sertoli cells or Leydig cells -> no AMH or testosterone (respectively) -> Mullerian structures persist, no androgen effect on external genitalia 

18

Fetal hydronephrosis 2/2 urinary tract dilation is detected on prenatal ultrasound 

How should this be managed?

Observation

50-80% of antenatal hydronephrosis will spontaneously resolve; does not necessarily represent a specific pathology

19

What are the adult derivatives of the labioscrotal folds in...

  • Males:
  • Females:

  • Males: Scrotum
  • Females: Labia majora

 

20

C - complete androgen insensitivity syndrome

 

  • 5-alpha reductase = no breast development 
  • Mixed gonadal dysgenesis is similar, but will not have symmetric inguinal masses (testes)
  • 21-hydroxylase deficiency would present much earlier
    • Salt wasting, hyperkalemia, failure to thrive soon after birth 

21

Describe the internal and external genitalia that result from 5-alpha-reductase deficiency in a 46, XY individual

  • Internal
    • Testes, synthesize AMH -> no mullerian structures
    • Also synthesize testosterone
  • External
    • Cannot convert testosterone to DHT -> Variable external genitalia
    • Depends on amount of DHT that is produced
    • More DHT -> more development of male structures

 

Male structures will often begin to develop during puberty due to increased testosterone

22

Where are sperm synthesized?

Where are they stored?

Synthesis: Testes

Storage: Epididymis

23

What embryonic structure gives rise to the ureter?

Mesonephric duct -> Ureteric bud

 

Keys is that the ureteric bud comes from the mesonephric duct, not the urogenital sinus

24

What causes mixed gonadal dysgenesis?

Mosaicism

One side has streak gonad, other has dysgenetic testicle

 

Most likely dx if testes are asymmetric

25

Which one of the following could persist as a cystic structure in the middle of the broad ligament of the uterus?
 

A. Urogenital sinus

B. Mesonephric duct

C. Allantois

D. Paramesonephric duct

E. Metanephric duct

B. Mesonephric duct

 

Remnant of the mesonephric duct - should only persist in male development

26

Which side is more susceptibel to ureteropelvic junction obstruction?

Left

(and M > F)

27

List the steps in the pathway that sperm take from the testes to the outside world

  • Testes (synthesis)
  • Epididymis (storage until ejaculation)
  • Vas deferens (aka ductus deferens
  • Inguinal canal
  • Seminal vesicles (picks up semen here)
  • Ejaculatory duct (after joining the prostatic urethra)
  • Membranous urethra
  • Penile urethra
  • Outside world

 

28

Extrophy of the bladder results from failure of mesoderm migration into which fetal structures?

Cloacal membrane/ventral abdominal wall

29

What is the most common etiology of ureteropelvic junction obstruction that presents with intermittent flank pain?

Crossing vessel

 

Adynamic segment, high insertion, intrinsic narrowing would either be asymptomatic or constant

30

What is the fate of the primordial mesonephric duct? (4)

Male internal structures

  • Seminal vesicles
  • Epididymis
  • Ejaculatory duct
  • Ductus deferens (aka vas deferens)

SEED

 

Note: Ureteric bud (-> ureters, pelvis, calyces, collecting duct) comes from the mesonephric duct