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Repro I > Development of the Genital System > Flashcards

Development of the Genital System Flashcards

1
Q

Migration of PGCs to genital ridges is guided by what?

A

c-kit receptor and c-kit ligand expressed on PGCs

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2
Q

What does the urogenital ridge develop with?

A

the kidney

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3
Q

What two ducts are present in both sexes during indifferent stage (week 1-6)?

A

paramesonephric ducts

mesonephric ducts

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4
Q

Where are primordial germ cells from?

A

endoderm of yolk sac

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5
Q

What leads to the regression of the paramesonephric ducts ?

A

SRY->TDF->SOX9/SF1->Sertoli cells->AMH

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6
Q

What are the remnants of the mesonephric ducts in females sometimes called?

A

eppophoron and paroophoron found in the mesentery of the ovary
and Gartner’s duct

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7
Q

What upregulates DAX1?

A

WNT4

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8
Q

what suppresses SOX9 and AMH expression?

A

DAX1: found on X chromosomes in both sexes

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9
Q

What represses DAX1 expression?

A

SRY

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10
Q

The genital tubercle develops near what?

A

cloacal membrane

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11
Q

What stimulates sertoli cell differentiation?

A

SOX9 and SF1

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12
Q

What is secreted by sertoli cells that cause the paramesonephric ducts to regress?

A

AMH or MIF

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13
Q

What stimulates the mesonephric ducts to become the epididymis, seminal vesicles and ductus deferens?

A

testosterone from leydig cells

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14
Q

What is the role of DHT in male fetal development?

A

masculinisation of external genitalia and prostate, brain and body tissues and systems

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15
Q

What promotes gubernacullum development and testis descent into scrotum ?

A

DHT, IGF-3, and testosterone

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16
Q

What are the two isoenzymes of 5-alpha-reductase?

A

5AR I: made in liver and skin

5AR II: made by parts of male repro tract

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17
Q

What is the ovary derived from?

A

cortical (secondary) cords that are invaded by PGCs

The cords form groups of primordial follicles (oogonium + follicular cells)

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18
Q

What happens to the mesonephric ducts in females?

A

degenerate except for epoophoron and paroophoron found in the mesentery of the ovary

19
Q

Portions of the mesonephric ducts can also exist as ________ ducts

A

Gartner’s

20
Q

What does the SRY repress on the X chromosome?

A

DAX1 expression

21
Q

Describe DAX1 function

A

WTN4 upregulates DAX1

DAX 1 suppresses SOX9 and AMH expression

22
Q

What do the paramesonephric ducts become?

A

Superior paired portions become the uterine tubes
Distal ends join uterovaginal primordium and becomes epithelium and glands of the uterus, epithelium of upper 1/3 of vagina and muscular wall of vagina

23
Q

What does the inferior portion of the vagina form from?

A

posterior wall of urogenital sinus

24
Q

What does the genital tubercle develop near?

A

cloacal membrane

25
Q

What divides the cloacal membrane? what does it become?

A

urorectal septum divides
becomes urogenital and anal membranes
urogenital membrane folds anteriorly and anal membrane folds posteriorly

26
Q

How does the external genitalia form in males?

A

enlargement of genital tubercle forms the phallus
urethral groove -> urethral folds ->fuse to form penile urethra
Labioscrotal swellings become the scrotum

27
Q

What forms the uterovaginal primordium?

A

distal ends of paramesonephric ducts joint the urogenital sinus

28
Q

How does the external genitalia form in females?

A

Genital tubercle elongates and bends inferiorly to become the clitoris
Urethral folds become the labia minora
Labioscrotal swellings become the labia majora

29
Q

What is hypospadias and what can it result from?

A

incomplete fusion of urethral folds and urethra opens onto the ventral aspect of the penis

Can result from inadequate androgen production or inadequate receptor sites for DHT

30
Q

What are the four types of hypospadias?

A

Glandular
Penile
Penoscrotal - can be with bifid scrotum
Perineal

31
Q

What is epispadias?

A

urethral meatus opens on the dorsum of the penis

Often occurs with bladder exstrophy

32
Q

What is pure gonadal dysgenesis?

A

there is a normal set of sex chromosomes but there are nonfunctional gonads

33
Q

What is campomelic dysplasia

A

Mutation in SOX9 causes short limbed dwarfism
Congential bowing of long bones
Hypoplastic lungs
malformation of cervical spine, heart, and kidneys
Male to femal sex reversal
Fatal outcome most of the time
Rare autosomal dominant

34
Q

What is MRKH?

A

failure for paramesonphric ducts to develop resulting in missing uterine tubes, uterus, and variable malformations of upper vagina

35
Q

What can an imperforate hymen cause?

A

this recanalization abnormality can lead to primary amenorrhea (absence of menses) and instead cause hematometra (build up of blood in uterus) ->
retrograde into uterine tubes: hematoalphinx ->hemoperitoneum

36
Q

What is cryptorchidism?

A

undescended testes that is unilateral or bilateral agenesis
associated with testicular cancer
ectopic testes

37
Q

What is klinefelter syndrome

A 
47 XXY
small testes, low lvls of testosterone
poorly developed 2ndary sex characteristics
gynecomastia - man boobs
elongated limbs
needs testosterone therapy
38
Q

What is turner’s syndrome?

A 
45, X
Short stature
no adolescent growth spurt
broad chest
webbed neck
congenital heart disease
ovary development is abortive
2ndary sex characteristics dont develop
estrogen therapy needed
39
Q

What is pseudointersexuality ?

A

46, XX or 46 XY DSD

External genitalia of one sex accompanies the gonads of the other sex

40
Q

What happens with 46 XX DSD? What does it result from?

A

Induced by prenatal exposure to androgens
Exposure after 12th fetal week ->clitoral hypertrophy
Earlier->retention of urogenital sinus and labioscrotal fusion
Earliest exposure->labia will fuse to form a penile urethra

41
Q

What is AIS?

A 
46 XY DSD
X-linked disorder
Receptors remain unresponsive to androgens
Normal levels of testosterone 
failure to masculinise
External genitalia feminine
non-functioning undescended testes
2ndary female characteristics may appear: test->estradiol
42
Q

What results from 5-ARD?

A

genetic males born with ambiguous genitalia
Derivatives of mesonephric ducts are normal
misdiagnosed as AIS
another form of 46 XY

43
Q

What is true intersex or ovotesticular DSD?

A 
very rare
have both ovarian and testicular tissue or ovotestes
causes not known
ambiguous external genitalia
most raised as female

Repro I (11 decks)

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