Embryology Flashcards

1
Q

What causes a bipotential gonad to go down the male pathway?

A

Presence of the Sex Determining Region of Y

(SRY portion of Y chromosome)

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2
Q

Describe the role of 5 genes that cause the urogenital ridge to become testes.

A
  • WT1 and NR5A1 upregulate SRY expression
  • SRY transcription factor then upregulates SOX9 expression from Sertoli cells
  • SOX9 upregulates FGF9
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3
Q

Gonad development requires migration of _____ cells

A

Gonad development requires migration of germ cells.

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4
Q

Describe 5 genes required for ovarian development

A
  • WNT4 and FOXL2 promote ovarian development
  • RSPO1 and WNT4 suppress SOX9 by upregulating beta-catenin
  • DAX1 (encoded by X chromosome) antagonizes SRY, SOX9, NR5A1
    • needed for both teste and ovary development
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5
Q

What is another name for Wolffian and Mullerian ducts?

Do these become internal or external genitalia?

A
  • Wolffian ducts = mesonephric
  • Mullerian ducts = paramesonephric

*These give rise to internal genitalia (not gonads)

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6
Q

What do the mesonephric ducts become?

A

Mesonephric/Wolffian ducts become SEED

  • Seminal vesicles
  • Epididymis
  • Ejaculatory ducts
  • vas Deferens
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7
Q

What two hormones facilitate male internal duct development?

What cells make these hormones?

A

Woffian/mesonephric duct development depends on

  • Testosterone
    • Made by Leydig cells
  • Anti-Mullerian Hormone
    • Made by Sertoli cells
    • Causes degradation of Mullerian ducts
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8
Q

What do the paramesonephric ducts become? (3)

A

Mullerian/paramesonephric ducts become

  • fallopian tubes
  • uterus
  • upper vagina
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9
Q

What promotes development of paramesonephric ducts?

A

Absence of testosterone and anti-mullerian hormone

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10
Q

What hormone promotes male external genitalia?

Female external genitalia?

A
  • Male external genitalia due to DHT
  • Female external genitalia due to estrogen
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11
Q

What is derived in men and women from…

  • Genital tubercle:
  • Urethral/urogenital folds:
  • Labial-scrotal swellings:
A
  • Genital tubercle: clitoris or glans penis (all erectile tissue)
  • Urethral/urogenital folds: labia minora or penile shaft/urethra
  • Labial-scrotal swellings: labia majora or scrotum
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12
Q

How is DHT made?

What process is it important for?

A
  • DHT is made from testosterone by 5-alpha-reductase
  • important for male external genitalia
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13
Q

At what gestational age is external genitalia differentiation complete?

A

13 wks!

After this time, external genitalia is minimally affected by androgen exposure

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14
Q

Describe the internal and external genitalia in Mullerian agenesis syndrome.

What is the common presentation?

A
  • Normal external genitalia and ovaries
  • No uterus or fallopian tubes
  • Presents as amenorrhea
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15
Q

What internal and external genitalia would you see in a 46,XY embryo with a Sertoli cell defect?

A
  • Presence of SRY causes normal testes development
  • Sertoli cells are responsible for making anti-mullerian hormone
    • Without them, Mullerian ducts don’t regress
    • Wolffian ducts still stimulated by testosterone
    • So, you have both male and female internal genitalia (uterus, male plumbing)
  • Normal male external genitalia
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16
Q
  • Gonads: __________
    • Develop from…
    • Based on presence of…
  • Internal genitalia: _____________
    • Develop from…
    • Based on presence of…
  • External genitalia:__________
    • Develop from…
    • Based on presence of…
A
  • Gonads: ovaries or testes
    • Develop from undifferentiated gonad
    • Based on presence of SRY
  • Internal genitalia: male plumbing, fallopian tubes, uterus
    • Develop from paramesonephric, mesonephric ducts
    • Based on presence of anti-mullerian hormone and testosterone
  • External genitalia: clitoris/labia, penis/scrotal skin
    • Develop from genital tubercle, labioscrotal swelling, urogenital folds
    • Based on presence of estradiol and DHT
17
Q

What is the defect in a septate uterus?

What is the defect in a bicornuate uterus?

A
  • Septate uterus: incomplete resportion of the septum
  • Bicornate uterus: incomplete fusion of the Mullerian ducts
18
Q

Define hypospadia and epispadia.

What is the defect in each?

A
  • Hypospadia: urethral opening is on underside of penis
    • Failure of urethral folds to fuse
  • Epispadia: urethral opening is on dorsal (upside) of penis
    • Abnormal positioning on genital tubercle