1. Introduction to reproductive and sexual differentiation Flashcards

1
Q

What does bi-potential mean?

A

The embryo can become male or female

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2
Q

What is sexual determination?

A

Pathway determining which gender an embryo will become

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3
Q

What is sexual differentiation?

A

internal and external genitalia being formed (male or female)

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4
Q

What are they different types of sex?

A

Genotypic, Gonadal, Phenotypic, Legal, Gender Identity

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5
Q

What is genotypic sex?

A
XX= female
XY= male
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6
Q

What is gonadal sex?

A

What the gonads develop as from the embryonic cells (testes or ovaries)

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7
Q

What is phenotypic sex?

A

Physical- the parts of the male/female

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8
Q

What is legal sex?

A

Gender mentioned on passport/birth certificate
decided by midwife
used to be fixed- now can change
important for sports teams

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9
Q

What happens at the genital ridge?

A

becomes either the testis or the ovaries

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10
Q

Where does the genital ridge develop from?

A

posterior wall of the lower thoracic lumbar region

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11
Q

What is the genital ridge made of?

A

common somatic mesenchymal tissue

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12
Q

What does the mullerian duct become?

A

uterus, uterine tubes and upper 2/3 of vagina

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13
Q

What does the Wollfian duct become?

A

vas deferens, seminal vesicle and prostate gland

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14
Q

What is the smallest chromosome in a karyotype?

A

Y chromosome

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15
Q

What does the Y chromosome contain?

A

SRY gene (sex determining Region of the Y) on the short arm

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16
Q

Where are the SRY genes expressed?

A

in the sertolli cells

sertolli cells influence the genital ridge to become testes

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17
Q

What does the SRY gene do?

A

codes for a protein= transcription factor

transcripts itself= develops into male

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18
Q

What are primordial germ cells?

A

small cluster or cells in the yolk sac= divide mitotically

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19
Q

Where do the primordial germ cells go?

A

yolk sac to connective tissue of hind gut to developing kidney region to genital ridge

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20
Q

What do the primordial germ cells become?

A

gametes (sperm/egg)

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21
Q

What are primitive sex chords?

A

cells near the genital ridge

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22
Q

What do primitive sex chords express in males?

A

SRY

they become sertoli cells

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23
Q

What do primitive sex chords become in females?

A

granulosa cells

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24
Q

Where do mesonephric cells originate?

A

mesonephric primordium = lateral to genital ridges

25
Q

What do mesonephric cells become in males?

A

leydig cells= produce testosterone

26
Q

What do mesonephric cells become in females?

A

theca cells

27
Q

What do sertoli cells do?

A
form tube strucutre around gametes
make AMH (anti-mullerian hormone)= involved in further development
28
Q

What do granulosa cells do?

A

make oestrodiol in adult life

29
Q

What do Mesonephric cells form in males?

A
  • make leydig cells
  • make vascular tissue
  • make basement membrane= forming seminiferous tubules and rete testes
30
Q

What do Mesonephric cells form in females?

A
  • theca cells
  • make vascular tissue
  • synthesize androstenedione which is a substrate for estradiol production by the granulosa in adult life
31
Q

What does anti mullerian hormone do?

A

regresses mullerian duct (HAPPENS IN MALES)

32
Q

What are the wollfian ducts stimulated by?

A

testosterone

33
Q

What does 5 alpha reductase do?

A

adds extra H to testosterone= becomes DHT (by converting NADPH to NADP)

34
Q

What does DHT bind to?

A

same receptor as testosterone but 10x more potent

35
Q

What does DHT cause?

A
produced in males
causes external differentiation
•the clitoral area enlarges into penis
•the labia fuses and becomes ruggated to form a scrotum 
•a prostate forms
36
Q

Is 5 alpha reductase present in females?

A

yes but no tesosterone to make DHT

37
Q

What does the external genitalia initially look like in males and females?

A

genital tubercle, genital swelling, urethral fold, urogenital membrane

38
Q

What happens to the male external genitalia?

A
  • genital tubercle swells = becomes the glans penis
  • urethral fold expands = becomes the scrotum
  • urethral fold folds over on itself and makes a hollow tube making the shaft of the penis
39
Q

What happens to the female external genitalia?

A
  • no testosterone= so no DHT
  • genital tubercle becomes the clitoris
  • urethral fold becomes the labia
40
Q

What is sex reversal?

A

phenotype and genotype dont match e.g. female genitalia but Y chromosome

41
Q

What is intersex?

A

ambiguous genitalia

42
Q

What is gonadal dysgenesis?

A

abnormal gonad development

43
Q

Who does AIS affect?

A

males (XY)

44
Q

What could be cause of AIS?

A

Testosterone receptor mutation

45
Q

What will happen in AIS?

A
  • no uterus/ any female internal genitalia= bc AMH so mullerian ducts regress
  • no internal male genitalia = wolfian ducts will not develop due to the insensitivity to testosterone
  • no convert to DHT so no male external genitalia= so person has external female genitalia
46
Q

What is partial AIS?

A
  • problem with SOME isoforms of androgen receptors
    OR downstream signalling problem
  • patient has: varying degrees of penile and scrotal development from ambiguous genitalia to large clitoris
47
Q

What happens with 5 alpha reductase deficiency?

A

testosterone is made but DHT isnt

48
Q

What do patients present with when they have 5 alpha reductase deficiency?

A

no uterus bc AMH is produced
male internal genitalia (only testosterone needed for this)
no male external genitalia (bc no DHT)
PRESENT AS FEMALE

49
Q

What kind of genetic problem is 5 alpha reductase deficiency?

A

autosomal recessive

50
Q

What is turner’s syndrome?

A

Only 1 X chromosome and no 2nd chromosome

XO

51
Q

What happens in turner’s syndrome?

A
  • have mullerian ducts bc no Y chromosome so no SRY so no AMH
  • have ovary
  • no wolfian ducts bc no testosterone
  • have female external genitalia as there is no testosterone
52
Q

What is congenital adrenal hyperplasia?

A

XX female exposed to high androgen levels in utero

53
Q

What is the shape of cholestrol?

A

3x 6 sided rings

1x 5 sided ring and carbon chain sticking out of 5 carbon ring (total 27 carbons)

54
Q

How are progestogens made?

A

cleave C 22-27 (SO 21 C IN TOTAL)

55
Q

How are androgens made?

A

cleave C 20-27 (19 C IN TOTAL)

56
Q

In the adrenal glands, how are mineralcorticoids (aldosterone) and glucorticoids (cortisol) made?

A

progestogens converted to them by 21 hydroxylase

57
Q

What happens in CAH?

A
  • 21 hydroxylase no function in females
  • so then get no aldosterone/cortisol
  • so then progestogens go up
  • converted to testosterone
  • then get wollfian duct to grow
  • get male genitalia
58
Q

What do you present as with CAH?

A

xx= FEMALE
NO amh AND HIGH TESTOSTERONE- so both male and female internal genitalia
external male genitalia

59
Q

When does sexual differentiation start?

A

7 weeks