Development Of The Genital System - 2/19 Cole Flashcards

1
Q

When does phenotypic sexual differentiation begin?

Complete?

A

Week 7

Week 20

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2
Q

What do primordial germ cells originate from?

A

Endoderm of yolk sac

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3
Q

What guides the migration that is expressed on PGCs?

Failure of PGCs to reach the genital ridge leads to what?

A

C-kit receptor and stem-cell factor (c-kit ligand)

Gonadal dysgenesis

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4
Q

What do Sertoli cells secrete?

What does this do?

A

MIS/MIF/Anti-mullerian hormone

Regression of Paramesonephric (Mullerian) Ducts

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5
Q

Where are leydig cells located?

What do they secrete?

A

Interstitial cells

Testosterone

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6
Q

What is critically important to ensure the formation of Sertoli cell formation and differentiation?

A

SOX9 and SF1

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7
Q

What is characterized by short limbed dwarfism, bowing of long bones and skeletal features like hypoplastic lungs, malformations of cervical spine, heart and kidneys?

Due to what?

A

Campomelic dysplasia

SOX9

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8
Q

What is DHT mainly responsible for in males?

A

Masculinization of external genitalia and prostate

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9
Q

What does testosterone do after released from leydig cells?

A

Masculinization of reproductive system (Wolfian duct)

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10
Q

Which kind of 5a-reductase is made by reproductive tract?

Where?

A

Type II

Epididymis, seminal vesicle, prostate

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11
Q

When do the primary (medullary) cords degenerate by in females?

A

10th week

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12
Q

In females the mesonephric ducts degenerate except for what?

Where are they found?

A

Epoophron and paroophoron

Mesentery of ovary

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13
Q

What are portions of the mesonephric duct left in the female called?

A

Gartner’s duct

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14
Q

What up regulates DAX1 in the female?

What does DAX1 do?

A

WTN4

Blocks SOX9 and AMH

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15
Q

When do the Paramesonephric (Mullerian) ducts develop?

Where?

A

6th week

Lateral to mesonephros

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16
Q

The paired portions of the Paramesonephric ducts become what?

A

Uterine tubes

17
Q

What does the uterovaginal primordium become?

A

Epithelium and glands of the uterus, epithelium of upper 1/3 of vagina, muscular wall of vagina

EEM

18
Q

Where does the inferior portion of the vagina form from?

Tissue from where?

A

Posterior wall of Urogenital sinus

Sinovaginal bulbs

19
Q

When can a 46 XY male have persistent Paramesonephric ducts?

A

Low AMH or abnormal response to AMH

20
Q

What is MRKH?

A

Failure of the Paramesonephric ducts to develop

Missing uterine tubes, uterus and variable malformation of the upper portion of the vagina

21
Q

Imperforate hymen can cause what?

A

Primary amenorrhea (absence of menses)

Hematosalpinx -> endometriosis and adhesion formation

Hemoperitoneum

22
Q

What does the genital tubercle form in the male?

Urethral folds?

Labioscrotal swellings?

A

Phallus

Penile urethra

Scrotum

23
Q

In the female, what does the genital tubercle become?

Urethral folds?

Labioscrotal swellings?

A

Clitoris

Labia minora

Labia majora

24
Q

What is cryptorchidism?

A

Undescended testes

Usually descend in 1st year, associated with increased testicular cancer

25
What is hypospadias? What causes it?
Urethra opens onto the ventral aspect of penis Inadequate androgens or inadequate receptor sites for DHT
26
What is epispadias? What does it occur with?
Urethral meatus opens on dorsal side of penis Bladder exstrophy
27
Genotype of Klinefelter syndrome? Characteristics?
47 XXY Small testes, low levels of testosterone, elongate limbs, poor development of secondary sexual characteristics
28
Genotype of Turner's syndrome? Characteristics?
45X or Mosiac 46XX Short, no adolescent growth, broad chest, CHD Secondary sex characteristics do not develop
29
What is pseudo intersexuality? Genotype?
External genitalia of one sex accompanies gonads of the other sex 46XX or 46XY
30
What can cause 46XX DSD? Exposure after 12th week leads to what?
Prenatal exposure to androgens Clitoris hypertrophy
31
Genotype of AIS? Cause? Characteristics?
46 XY DSD X-linked disorder where receptors unresponsive to androgens External genitalia are feminine, undescended testes
32
5a-reducatase deficiency (5-ARD) is failure of what? Result? Genotype
Inability to convert testosterone to DHT Born with ambiguous genitalia, normal mesonephric duct derivatives, "first women, then man) 46XY DSD
33
When can M/F external genitalia be recognized?
Week 12