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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
What divides the cloacal membrane? what does it become?
urorectal septum divides becomes urogenital and anal membranes urogenital membrane folds anteriorly and anal membrane folds posteriorly
26
How does the external genitalia form in males?
enlargement of genital tubercle forms the phallus urethral groove -> urethral folds ->fuse to form penile urethra Labioscrotal swellings become the scrotum
27
What forms the uterovaginal primordium?
distal ends of paramesonephric ducts joint the urogenital sinus
28
How does the external genitalia form in females?
Genital tubercle elongates and bends inferiorly to become the clitoris Urethral folds become the labia minora Labioscrotal swellings become the labia majora
29
What is hypospadias and what can it result from?
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
What are the four types of hypospadias?
Glandular Penile Penoscrotal - can be with bifid scrotum Perineal
31
What is epispadias?
urethral meatus opens on the dorsum of the penis | Often occurs with bladder exstrophy
32
What is pure gonadal dysgenesis?
there is a normal set of sex chromosomes but there are nonfunctional gonads
33
What is campomelic dysplasia
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
What is MRKH?
failure for paramesonphric ducts to develop resulting in missing uterine tubes, uterus, and variable malformations of upper vagina
35
What can an imperforate hymen cause?
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
What is cryptorchidism?
undescended testes that is unilateral or bilateral agenesis associated with testicular cancer ectopic testes
37
What is klinefelter syndrome
``` 47 XXY small testes, low lvls of testosterone poorly developed 2ndary sex characteristics gynecomastia - man boobs elongated limbs needs testosterone therapy ```
38
What is turner's syndrome?
``` 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
What is pseudointersexuality ?
46, XX or 46 XY DSD | External genitalia of one sex accompanies the gonads of the other sex
40
What happens with 46 XX DSD? What does it result from?
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
What is AIS?
``` 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
What results from 5-ARD?
genetic males born with ambiguous genitalia Derivatives of mesonephric ducts are normal misdiagnosed as AIS another form of 46 XY
43
What is true intersex or ovotesticular DSD?
``` 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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