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
How are fallopian tubes developed? (2)
1. In the presence of estrogen | 2. Lack of androgens
26
What is formed in the female with the presence of estrogen and lack of androgens? (3)
1. Fallopian tubes 2. Uterus 3. Upper portion of the vagina
27
What is the Wolffian duct?
Is a paired organ also found in humans during embryogenesis that is developed when exposed to testosterone
28
What does the wolffian duct develop into when exposed to testosterone or increase in androgens? (3) What takes place here?
1. Epididymis 2. Vas deferens 3. Seminal vesicle - -> Spermatogenesis takes place here
29
What is spermatogenesis?
Is the process in which spermatozoa are produced from spermatogonial stem cells by way of mitosis and meiosis
30
What is critical that the wolffian ducts most be exposed to during embryogenesis?
Testosterone
31
What family is anti-mullerian hormone part of?
Transforming growth factor beta family
32
What are anti-mullerian hormones produced by?
Sertoli cells
33
What controls stabilization of wolffian ducts?
Leydig cells
34
Where does the mammalian gonad form? And whats the result?
On the surface of the mesonephros within the genital ridge | - As a result of proliferation of the coelomic epithelium
35
What does testicular differentiation come before?
Ovarian differentiation
36
What is an example of a lack of ability for reproductive development in females?
Amenorrhea
37
What is amenorrhea?
Lack of menstrual cycle after age 16 or having 3 missed periods
38
What is amenorrhea a possible sign of? (3)
1. Genetic abnormalities 2. Endocrine abnormalities 3. Anatomic abnormalities
39
What kind of deficiency is Kallmann's syndrome?
GnRH (gonadotropin-releasing hormone)
40
What is Kallmann's syndrome? (3)
- 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
What are 3 examples of amenorrhea?
1. Kallmann's syndrome 2. Functional hypothalamic amenorrhea 3. Hyperprolactinemia
42
What is functional hypothalamic amenorrhea?
- 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
FHA
Functional hypothalamic amenorrhea
44
FSH
Follicle stimulating hormone
45
LH
Luteinizing hormone
46
HPA axis
Hypothalamic–pituitary–adrenal axis
47
What is hyperprolactinemia
- 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
What is the average age menopause begins?
51
49
What is menopause?
Ovary ceases to function
50
What can menopause lead to? (2)
1. Hot flashes | 2. Urogenital atrophy
51
What are effects that happen during the later stages of menopause? (3)
1. Osteoporosis 2. Cardiovascular disease 3. Psychological health issues - -> eg) insomnia, fatigue, memory and depression
52
Hypogonadism
Diminished functional activity of the gonads that may result in diminished sex hormone biosynthesis
53
What are 4 side effects for not getting enough androgens?
1. Lack of facial hair and other secondary sex characteristics 2. Anemia 3. Decrease in bone mass 4. Fine wrinkles
54
What are 3 examples of a lack of reproductive conditions?
1. Hypogonadism 2. Klinefelters syndrome 3. Turners syndrome
55
What is klinefelters syndrome?
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
What is tuner's syndrome?
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
What are 4 development problems associated with turners syndrome?
1. Short 2. Web neck 3. Hearing loss 4. Kidney loss of function
58
Is klinefelters syndrome and turners syndrome treatable?
Yes, both treatable with hormones for secondary sexual characteristics
59
What is a problem that will never change in turners and klinefelters syndrome?
Will always be infertile
60
What is another word for a female 46XX DSD?
Intersex (pseudohermaphrodism)
61
What is female 46XX DSD caused by?
Exposure to too much androgens in the early stages of development - 1/16,000
62
What does early exposure to androgens not produce?
No ovaries
63
What is another word for intersex 46XY
Male psuedohermaphrodism
64
What is intersex 46XY?
Having testes but genital ducts or external genitalia not fully masculinized
65
What defect does intersex 46XY have?
Defect in testosterone secretion - -> Impaired testosterone or mullerian inhibitor factor secretion - No testosterone --> DHT - -> but also lacks 5α- reductase
66
What is another word for androgen insensitivity (resistance) syndrome?
Complete 46XY
67
What are the effects of AIS? (4)
1. Testes 2. Absence of wolffian ducts 3. Female appearing external genitalia 4. Androgen receptor mutation
68
AIS
Androgen insensitivity syndrome
69
What happens at puberty in AIS? (4)
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
What are 3 side effects of AIS?
1. Taller 2. Normal appearance 3. Infertility
71
What are 6 androgen biosynthetic dysfunction in 46XY individuals?
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
What are 6 androgen excess in 46XX individuals?
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
What is increased in 46XX individuals?
Increased androgen exposure in utero | - eg) androgenic drugs
74
What family is estrogen alpha and beta part of?
Thyroid hormone nuclear receptor family
75
Where is estrogen alpha expressed in?
Reproductive tissues
76
What does estrogen alpha do? (2)
Mediates the majority of... 1. Sexually dimorphic 2. Reproductive functions
77
What does estrogen beta exhibit?
A distinct pattern of expression
78
What are 3 places that estrogen is expressed in?
1. Prostate 2. Brain 3. Immune cells
79
What occurs in all the domains of estrogen receptors?
Phosphorylation
80
What is tamoxifen?
Is an antagonist of the estrogen receptor in breast tissue
81
NISS
Nuclear initiated steroid signalling
82
How does WHO define sex?
Refers to the biological and physiological characteristics that define men and women