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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?

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?

25
What cell(s) induced by development of ovary?
- Follicle cells
26
What hormone(s) does Follicle cell produce?
- Wnt4 | - Oestrogen
27
What are functions of Wnt4?
Development of Mullerian duct into: - Uterine tube - Uterus - Cervix - Vagina
28
What are functions of oestrogen?
Oogenesis (puberty)
29
How do external female structures develop?
Absence of testosterone and DHT
30
What is sexual phenotype of Klinefelter syndrome?
XXY
31
List 3 signs and symptoms of Klinefelter syndrome
- Infertility - Sparse body hair - Disproportionate growth - Gynecomastia - Hypogonadism - Testicular atrophy
32
What is Klinefelter syndrome treated with?
Testosterone therapy
33
What is sexual phenotype of Turner syndrome?
XO
34
List 3 signs and symptoms of Turner syndrome
- Gonadal dysgenesis - Infertility - Short stature - Webbed neck - Broad chest - Lymphoedema - Cardiac, renal, skeletal abnormalities
35
What is Turner syndrome treated with?
- GH (child) | - Oestrogen (from puberty)
36
What causes XY females and XX males?
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
List 3 signs and symptoms of XX male
- Hypogonadism - Azoospermia - Hyalinisation of seminiferous tubules - Gynecomastia - Normal intelligence - Normal proportions - Normal/short stature
38
List 3 signs and symptoms of XY female
- Complete gonadal dysgenesis - Presence of external female genitalia - Absence of ovaries - Absence of secondary sexual development (e.g. breast, menstruation) - Sparse pubic hair
39
Is androgen insensitivity syndrome X-linked recessive or X-linked dominant?
X-linked recessive mutation to AR gene
40
What is androgen insensitivity syndrome?
Reduces/eliminates responsiveness of cells to androgen as there is no androgen receptor for entry of testosterone into cell
41
What are functions of testosterone after puberty?
- Muscle - Voice - Libido - Spermatogenesis - Growth of external genitalia
42
What are functions of DHT after puberty?
- Prostate growth - Hair (pubic, facial) - Acne
43
List features of SRD5A deficiency
- Born with male gonads including Wolffian structures - Have female external genitalia - Amenorrhoea (puberty) - Virilisation (puberty) including descending testes, hirsutism and deepening of voice
44
What is the hypothesis for SRD5A deficiency's amenorrhoea and virilisation during puberty?
- Increased activity of 5 alpha reductase type 1 in skin, liver, brain - Threshold level of testosterone

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