Sex determination Flashcards

1
Q

Which gene(s) on Y chromosome is essential for male development?

A

SRY gene

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2
Q

How many Barr bodies are there in XXXX?

A

3

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3
Q

What does the undifferentiated duct system comprise of?

A

Mullerian duct and Wolffian duct

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4
Q

If SRY gene expresses, which duct will degenerate?

A

Mullerian duct

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5
Q

What substance causes degeneration of Mullerian duct?

A

Mullerian inhibiting substances

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6
Q

What will Wolffian duct differentiate into?

A
  • Vas deferens
  • Seminal vesicles
  • Epididymus
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7
Q

If Y chromosome is not present, which duct will degenerate?

A

Wolffian duct

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8
Q

What will Wolffian duct differentiate into?

A
  • Uterus
  • Fallopian tube
  • Proximal vagina
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9
Q

Is SRY gene on Y chromosome a TF?

A

Yes

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10
Q

Which gene(s) does SRY induce?

A

SOX 9 on chromosome 17

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11
Q

Which gene(s) does SOX 9 work with?

A
  • SF1 on chromosome 9

- WT 1 on chromosome 11

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12
Q

Which gene(s) cause degeneration of Mullerian duct?

A

SRY, SOX 9, SF1

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13
Q

Which gene(s) inhibit differentiation of testes?

A

DAX 1

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14
Q

Is SRY located on short arm or long arm?

A

short arm

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15
Q

What is function of SRY?

A
  • Sertoli cell differentiation

- AMH expression

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16
Q

Which gene(s) drive development of testes?

A

SRY

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17
Q

Which cell(s) are induced by development of testes?

A
  • Leydig cells

- Sertoli cells

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18
Q

What hormone does Leydig cell produce?

A

Testosterone

19
Q

What is function of testosterone in development of male reproductive tract?

A
  • Differentiation of Wolffian duct into ductus deferens, epididymis and seminal vesicles
  • Spermatogenesis (puberty)
20
Q

What enzyme involves in conversion of testosterone to DHT?

A

5 alpha reductase

21
Q

What is function of DHT in development of male reproductive tract?

A

Differentiation of:

  • Genital tubercle into penis
  • Genital swelling into scrotum
  • Urethral epithelium into prostate and urethra
22
Q

What hormone(s) produced by Sertoli cell?

A
  • AMH

- ABP

23
Q

What are functions of AMH and ABP?

A
  • AMH: degeneration of Mullerian duct

- ABP: spermatogenesis (puberty)

24
Q

Which structure(s) drive development of internal female tract?

A

Ovary

25
Q

What cell(s) induced by development of ovary?

A
  • Follicle cells
26
Q

What hormone(s) does Follicle cell produce?

A
  • Wnt4

- Oestrogen

27
Q

What are functions of Wnt4?

A

Development of Mullerian duct into:

  • Uterine tube
  • Uterus
  • Cervix
  • Vagina
28
Q

What are functions of oestrogen?

A

Oogenesis (puberty)

29
Q

How do external female structures develop?

A

Absence of testosterone and DHT

30
Q

What is sexual phenotype of Klinefelter syndrome?

A

XXY

31
Q

List 3 signs and symptoms of Klinefelter syndrome

A
  • Infertility
  • Sparse body hair
  • Disproportionate growth
  • Gynecomastia
  • Hypogonadism
  • Testicular atrophy
32
Q

What is Klinefelter syndrome treated with?

A

Testosterone therapy

33
Q

What is sexual phenotype of Turner syndrome?

A

XO

34
Q

List 3 signs and symptoms of Turner syndrome

A
  • Gonadal dysgenesis
  • Infertility
  • Short stature
  • Webbed neck
  • Broad chest
  • Lymphoedema
  • Cardiac, renal, skeletal abnormalities
35
Q

What is Turner syndrome treated with?

A
  • GH (child)

- Oestrogen (from puberty)

36
Q

What causes XY females and XX males?

A

Chromosomal crossover with SRY reciprocal translocation between X and Y chromatid with shifting of SRY gene

  • SRY gene is no longer found on Y chromatid
  • SRY expressed from X chromosome
37
Q

List 3 signs and symptoms of XX male

A
  • Hypogonadism
  • Azoospermia
  • Hyalinisation of seminiferous tubules
  • Gynecomastia
  • Normal intelligence
  • Normal proportions
  • Normal/short stature
38
Q

List 3 signs and symptoms of XY female

A
  • Complete gonadal dysgenesis
  • Presence of external female genitalia
  • Absence of ovaries
  • Absence of secondary sexual development (e.g. breast, menstruation)
  • Sparse pubic hair
39
Q

Is androgen insensitivity syndrome X-linked recessive or X-linked dominant?

A

X-linked recessive mutation to AR gene

40
Q

What is androgen insensitivity syndrome?

A

Reduces/eliminates responsiveness of cells to androgen as there is no androgen receptor for entry of testosterone into cell

41
Q

What are functions of testosterone after puberty?

A
  • Muscle
  • Voice
  • Libido
  • Spermatogenesis
  • Growth of external genitalia
42
Q

What are functions of DHT after puberty?

A
  • Prostate growth
  • Hair (pubic, facial)
  • Acne
43
Q

List features of SRD5A deficiency

A
  • Born with male gonads including Wolffian structures
  • Have female external genitalia
  • Amenorrhoea (puberty)
  • Virilisation (puberty) including descending testes, hirsutism and deepening of voice
44
Q

What is the hypothesis for SRD5A deficiency’s amenorrhoea and virilisation during puberty?

A
  • Increased activity of 5 alpha reductase type 1 in skin, liver, brain
  • Threshold level of testosterone