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Reproduction, Development and Ageing > Sexual Differentiation > Flashcards

Sexual Differentiation Flashcards

1
Q

What are the four main transcription factors involved in development of the genital ridge?

A
  • IGFR1
  • Wilms Tumour 1 (WT1)
  • Steroidigenic Factor 1 (SF1)
  • DAX1
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2
Q

Which gene is responsible for testicular determination in most mammals?

A

SRY

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3
Q

SRY is found solely in the ___ cells of the testis

A

Pre-Sertoli cells

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4
Q

SOX-9 is an ___ gene that completes testicular differentiation once stimulated

A

Autosomal gene

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5
Q

SOX-9 is initially transcribed by SFO1 and then is markedly upregulated by ___

A

SRY

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6
Q

SOX-9 Upregulates itself via positive feedback loop and stimulation of ___ and ___

A

PGD2 and FGF-9

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7
Q

What is the function of PGD2 in male gonadal development?

A
  • Increases SOX-9 (paracrine)

- Recruits further cells to Sertoli cell lineage

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8
Q

How does FGF-9 influence male gonadal development?

A
  • Earliest mitogen in XY gonad

- Enhances proliferation of cells that increase no. of precursors of SRY expressing cells

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9
Q

What evidence is there that transcriptional antagonism between male and female factors continues throughout life?

A

Loss of FOXL2 in adult mice causes ovaries to develop testicular functions

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10
Q

Where do primordial germ cells originate?

A

Allantois (yolk sac)

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11
Q

Survival of primordial germ cells in migration is dependent on ____

A

cKIT/Steel factor

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12
Q

In testis germ cells enter ___ and have mitotic arrest

In ovaries germ cells continue into early ___ before arresting

A

Cords

Meiosis

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13
Q

Which structures does the Wollfian duct differentiate to?

A
  • Epididymis
  • Vas deferens
  • Seminal vesicles
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14
Q

Which structures does the Mullerian duct differentiate to?

A
  • Fallopian tubes
  • Uterus
  • Upper 1/3 of vagina
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15
Q

___ cells produce AMH which causes Mullerian duct regression

A

Sertoli

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16
Q

___ cells produce testosterone which causes Wolffian structure maintenance

A

Leydig

17
Q

What will loss of function in a gene that is critical in forming AMH or its receptor cause in a male?

A
  • Retention of Mullerian structures in XY male

- Bilateral cryptorchidism

18
Q

What will loss of function in a gene that is critical in the synthesis of testosterone or in testosterone action cause in a male?

A
  • No internal genitalia
19
Q

Differentiation of genital tubercle to dependent on exposure to high concentrations of ___

A

DHT

20
Q

Lower concentrations of androgen or partial insensitivity will result in ____ of external genitalia

A

Partial virilisation

21
Q

Absence or complete resistance to androgens results in _____

A

Female external genitalia

22
Q

What condition should be considered in children with a micropenis?

A

Pituitary problem

23
Q

What do the following differentiate to in a female?

  • Labioscrotal folds
  • Urethral folds
  • Glans
A
  • Labia majora
  • Labia minora
  • Clitoris
24
Q

What do the following differentiate to in a male?

  • Labioscrotal folds
  • Urethral folds
  • Glans
A
  • Scrotum
  • Shaft of penis
  • Glans penis
25
Q

What will loss of function in 5 alpha reductase cause?

A
  • Undervirilised male genitalia

- Virilisation at puberty with penis developing

26
Q

Which tests should be undertaken when there is a child with ambiguous genitalia?

A
  • Karyotype

- Pelvic USS

27
Q

A palpable gonad is almost always a ____

A

Testis

28
Q

What is a fetal cause of a virilised female?

A
  • Congenital adrenal hyperplasia
29
Q

What is a maternal cause of a virilised female?

A
  • Ingestion (OC, stilboestrol, progestagens)
  • Severe PCOS
  • Androgen secreting tumour
30
Q

What are two causes of an undervirilised male?

A
  • Lack of prenatal androgen exposure

- Inability to respond to testosterone

31
Q

What are five underlying pathologies causing an undervirilised male?

A
  • LH receptor mutation
  • Steroid biosynthetic defect
  • Androgen receptor mutation
  • Hypothalamic/pituitary defect
  • Syndromes e.g. Kleinfelters
32
Q

No periods after the age of ___ is considered delayed

A

14

33
Q

An absent uterus indicates that ____ is present

A

AMH

34
Q

What causes pubic hair development?

A

Synthesis of male hormone by the adrenals

35
Q

WT1 initiates transcriptional regulation and differentiation of both ____ epithelial cells and ____ primordium

A

Glomerular epithelial cells

Gonadal primordium

36
Q

What are potential consequences of haploinsufficiency of SF1?

A
  • Sex reversal
  • Isolated undervirilised boy
  • Premature ovarian failure

Reproduction, Development and Ageing (26 decks)

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