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Bio 432 > Gonadal Differentiation - Final Exam > Flashcards

Gonadal Differentiation - Final Exam Flashcards

1
Q

What is sexual differentiation in mammals driven by?

A

The presence of androgens in males and their decreased amounts in females.

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2
Q

What do androgens have a big impact on? Example

A

The developing fetus.

- Eg. Secondary sexual characteristics

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3
Q

How does WHO define gender?

A

Refers to the socially constructed roles, behaviours, activities and attributes that a given society considers appropriate for men and women.

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4
Q

What 2 factors have a big effect on what we refer to as gender?

A
  1. Environment

2. Society

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5
Q

What are 2 examples of sex categories?

A
  1. Male

2. Female

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6
Q

What are 2 examples of gender categories?

A
  1. Masculine

2. Feminine

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7
Q

What aspects of sex will/ will not vary substantially?

A
  1. Will not = aspects between different human societies

2. Will = aspects of gender

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8
Q

What happens if you change the receptor for gonadal differentiation?

A

The you change the presentation of the phenotype that would be displayed

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9
Q

What is helpful in chromosomal gene/region ID

A

FISH

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10
Q

SRY

A

Sex-determining region Y protein

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11
Q

What is SRY?

A

It is a DNA binding protein

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12
Q

What does SRY initiate?

A

Testes

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13
Q

What is SF-1 important for? (4)

A
  1. Gonadal and adrenal development
  2. Reproduction
  3. Anti-mullerian hormone
  4. Phenotypic presentation
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14
Q

SF-1

A

Steroidogenic factor 1

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15
Q

What are 2 potential problems that mutations in SF-1 can create?

A
  1. Adrenal insufficiency 46XY females (low androgens)

2. Gonadal dysgenesis

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16
Q

What can mutations in SF-1 lead to? (3)

A
  1. Lack of development of a reproductive system
    - eg) testes and ovaries
  2. High risk for cancer
  3. Problems with production on hormones or change in receptor
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17
Q

What is the default with the absence of androgens in the early stages of development?

A

Females

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18
Q

What does translocation/mutation of SRY lead to? (2)

A
  1. 46XX males

2. 46XY females

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19
Q

What 2 factors influence testicular and ovarian differentiation?

A

Combination of…

  1. Hormones
  2. Environmental
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20
Q

What is the unique characteristic of undifferentiated gonads?

A

Having the potential to form either of 2 organs: testes or ovaries

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21
Q

How many genes are there that regulate sex differentiation?

A

More than 50

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22
Q

What do sex differentiation genes encode? (4)

A
  1. Transcription factors
  2. Gonadal steroids
  3. Peptide hormones
  4. Tissue-specific receptors
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23
Q

What are mullerian ducts?

A

They are paired ducts of the embryo that run down the lateral sides of the urogenital ridge

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24
Q

What do mullerian ducts give rise to?

A

Fallopian tubes

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25
Q

How are fallopian tubes developed? (2)

A
  1. In the presence of estrogen

2. Lack of androgens

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26
Q

What is formed in the female with the presence of estrogen and lack of androgens? (3)

A
  1. Fallopian tubes
  2. Uterus
  3. Upper portion of the vagina
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27
Q

What is the Wolffian duct?

A

Is a paired organ also found in humans during embryogenesis that is developed when exposed to testosterone

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28
Q

What does the wolffian duct develop into when exposed to testosterone or increase in androgens? (3) What takes place here?

A
  1. Epididymis
  2. Vas deferens
  3. Seminal vesicle
    - -> Spermatogenesis takes place here
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29
Q

What is spermatogenesis?

A

Is the process in which spermatozoa are produced from spermatogonial stem cells by way of mitosis and meiosis

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30
Q

What is critical that the wolffian ducts most be exposed to during embryogenesis?

A

Testosterone

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31
Q

What family is anti-mullerian hormone part of?

A

Transforming growth factor beta family

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32
Q

What are anti-mullerian hormones produced by?

A

Sertoli cells

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33
Q

What controls stabilization of wolffian ducts?

A

Leydig cells

34
Q

Where does the mammalian gonad form? And whats the result?

A

On the surface of the mesonephros within the genital ridge

- As a result of proliferation of the coelomic epithelium

35
Q

What does testicular differentiation come before?

A

Ovarian differentiation

36
Q

What is an example of a lack of ability for reproductive development in females?

A

Amenorrhea

37
Q

What is amenorrhea?

A

Lack of menstrual cycle after age 16 or having 3 missed periods

38
Q

What is amenorrhea a possible sign of? (3)

A
  1. Genetic abnormalities
  2. Endocrine abnormalities
  3. Anatomic abnormalities
39
Q

What kind of deficiency is Kallmann’s syndrome?

A

GnRH (gonadotropin-releasing hormone)

40
Q

What is Kallmann’s syndrome? (3)

A
  • Failure to start or complete puberty
  • No mirgration of GnRH producing cells or olfactory neurons to the hypothalamus
  • -> no sexual maturity or smell
  • Most common genetic from of isolated gonadotropin deficiency
41
Q

What are 3 examples of amenorrhea?

A
  1. Kallmann’s syndrome
  2. Functional hypothalamic amenorrhea
  3. Hyperprolactinemia
42
Q

What is functional hypothalamic amenorrhea?

A
  • Reduced GnRH pulse frequency and amplitude
  • -> low FSH and LH, leptin implicated (low levels), minor activation of HPA axis and incidences of psychological stress, strenuous exercise or poor nutrition precede
  • One of the most common types of amenorrhea
  • Endocrine disorder
43
Q

FHA

A

Functional hypothalamic amenorrhea

44
Q

FSH

A

Follicle stimulating hormone

45
Q

LH

A

Luteinizing hormone

46
Q

HPA axis

A

Hypothalamic–pituitary–adrenal axis

47
Q

What is hyperprolactinemia

A
  • Usually dopamine not inhibiting prolactin release, a common cause (25%)
  • Most common cause of amenorrhea
  • High levels of prolactin that should be monitored and controlled by dopamines
48
Q

What is the average age menopause begins?

A

51

49
Q

What is menopause?

A

Ovary ceases to function

50
Q

What can menopause lead to? (2)

A
  1. Hot flashes

2. Urogenital atrophy

51
Q

What are effects that happen during the later stages of menopause? (3)

A
  1. Osteoporosis
  2. Cardiovascular disease
  3. Psychological health issues
    - -> eg) insomnia, fatigue, memory and depression
52
Q

Hypogonadism

A

Diminished functional activity of the gonads that may result in diminished sex hormone biosynthesis

53
Q

What are 4 side effects for not getting enough androgens?

A
  1. Lack of facial hair and other secondary sex characteristics
  2. Anemia
  3. Decrease in bone mass
  4. Fine wrinkles
54
Q

What are 3 examples of a lack of reproductive conditions?

A
  1. Hypogonadism
  2. Klinefelters syndrome
  3. Turners syndrome
55
Q

What is klinefelters syndrome?

A

Is a gonadal dysgenesis that is due to low testosterone and androgens –> in males

  • Male XXY = chromosomal abnormality
  • Rare = 1/500 males
  • Most common form of male hypogonadism
  • High quality of life
56
Q

What is tuner’s syndrome?

A

Is a gonadal dysgenesis that is due to almost no estrogen or progesterone –> in females

  • Female X0
  • 1/500 females
  • Low quality of life
57
Q

What are 4 development problems associated with turners syndrome?

A
  1. Short
  2. Web neck
  3. Hearing loss
  4. Kidney loss of function
58
Q

Is klinefelters syndrome and turners syndrome treatable?

A

Yes, both treatable with hormones for secondary sexual characteristics

59
Q

What is a problem that will never change in turners and klinefelters syndrome?

A

Will always be infertile

60
Q

What is another word for a female 46XX DSD?

A

Intersex (pseudohermaphrodism)

61
Q

What is female 46XX DSD caused by?

A

Exposure to too much androgens in the early stages of development
- 1/16,000

62
Q

What does early exposure to androgens not produce?

A

No ovaries

63
Q

What is another word for intersex 46XY

A

Male psuedohermaphrodism

64
Q

What is intersex 46XY?

A

Having testes but genital ducts or external genitalia not fully masculinized

65
Q

What defect does intersex 46XY have?

A

Defect in testosterone secretion

  • -> Impaired testosterone or mullerian inhibitor factor secretion
  • No testosterone –> DHT
  • -> but also lacks 5α- reductase
66
Q

What is another word for androgen insensitivity (resistance) syndrome?

A

Complete 46XY

67
Q

What are the effects of AIS? (4)

A
  1. Testes
  2. Absence of wolffian ducts
  3. Female appearing external genitalia
  4. Androgen receptor mutation
68
Q

AIS

A

Androgen insensitivity syndrome

69
Q

What happens at puberty in AIS? (4)

A
  1. Female secondary sexual characteristics
  2. No occurrence of the menstrual cycle
  3. Increase in LH
  4. Increase in testosterone and estradiol (peripheral and testes)
70
Q

What are 3 side effects of AIS?

A
  1. Taller
  2. Normal appearance
  3. Infertility
71
Q

What are 6 androgen biosynthetic dysfunction in 46XY individuals?

A
  1. Luteinizing hormone (LH) receptor mutations
  2. 3β-hydroxysteroid dehydrogenase 2 deficiency
  3. 17α-hydroxylase deficiency
  4. 17,20 lyase deficiency
  5. 17β-hydroxysteroid dehydrogenase deficiency
  6. 5α-reductase deficiency
72
Q

What are 6 androgen excess in 46XX individuals?

A
  1. 21-hydroxylase deficiency
  2. 3β-hydroxysteroid dehydrogenase 2 deficiency
  3. Cytochrome P450 oxidoreductase deficiency (disorder in mother causes 46,XX
    fetal virilization)
  4. 11β-hydroxylase deficiency
  5. Aromatase deficiency
  6. Glucocorticoid receptor mutations
73
Q

What is increased in 46XX individuals?

A

Increased androgen exposure in utero

- eg) androgenic drugs

74
Q

What family is estrogen alpha and beta part of?

A

Thyroid hormone nuclear receptor family

75
Q

Where is estrogen alpha expressed in?

A

Reproductive tissues

76
Q

What does estrogen alpha do? (2)

A

Mediates the majority of…

  1. Sexually dimorphic
  2. Reproductive functions
77
Q

What does estrogen beta exhibit?

A

A distinct pattern of expression

78
Q

What are 3 places that estrogen is expressed in?

A
  1. Prostate
  2. Brain
  3. Immune cells
79
Q

What occurs in all the domains of estrogen receptors?

A

Phosphorylation

80
Q

What is tamoxifen?

A

Is an antagonist of the estrogen receptor in breast tissue

81
Q

NISS

A

Nuclear initiated steroid signalling

82
Q

How does WHO define sex?

A

Refers to the biological and physiological characteristics that define men and women

Bio 432 (19 decks)

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