Disorders of Sex Hormones Flashcards

1
Q

name the disorder of sex hormones

LH = high
testosterone = low

A

primary hypogonadism (Klinefelter’s syndrome)

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2
Q

name the disorder of sex hormones

LH = low
testosterone = low

A

hypogonadotrophic hypogonadism (Kallman’s syndrome)

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3
Q

name the disorder of sex hormones

LH = high
testosterone = normal/high

A

androgen insensitivity syndrome

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4
Q

name the disorder of sex hormones

LH = low
testosterone = high

A

testosterone-secreting tumour

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5
Q

what karyotype is klinefelter’s syndrome?

A

47 XXY

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6
Q

what are the features of klinefelter’s syndrome?

A
  • taller than average
  • lack of secondary sexual characteristics
  • small, firm testes
  • infertile
  • gynaecomastia
  • elevated gonadotrophin levels
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7
Q

how is klinefelter’s syndrome diagnosed?

A

chromosomal analysis

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7
Q

how is klinefelter’s syndrome diagnosed?

A

chromosomal analysis

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8
Q

what type of cancer are patients with klinefelter’s more at risk of?

A

breast cancer due to gynaecomastia

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9
Q

what is kallman’s syndrome?

A

delayed puberty secondary to hypogonadotrophic hypogonadism

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10
Q

how is kallman’s syndrome inherited?

A

X-linked recessive

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11
Q

what is the cause of kallman’s syndrome?

A

failure of GnRH-secreting neurons to migrate to the hypothalamus

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12
Q

what is the buzzword feature of kallman’s syndrome?

A

anosmia + boy with delayed puberty

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13
Q

what are the features of kallman’s syndrome?

A
  • ‘delayed puberty’
  • hypogonadism, cryptorchidism
  • anosmia
  • sex hormones levels are low
  • LH, FSH levels are inappropriately low/normal
  • normal or above average height
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14
Q

what congential defects are associated with kallman’s syndrome?

A
  • cleft lip/palate
  • visual/hearing defects
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15
Q

what type of inheritance is androgen insensitivity syndrome?

A

x-linked recessive condition

16
Q

what is the cause of androgen insensitivity syndrome?

A

end-organ resistance to testosterone

17
Q

what is the karyotype of androgen insensitivity syndrome?

A

46 XY
(genotypically male children with female phenotype)

18
Q

what are the features of androgen insensitivity syndrome?

A
  • ‘primary amenorrhoea’ = never had a period
  • undescended testes causing groin swelling
  • breast development
19
Q

how is androgen insensitivity syndrome diagnosed?

A

buccal smear or chromosomal analysis

20
Q

what is the management of androgen insensitivity syndrome?

A
  • counselling - raise child as female
  • bilateral orchidectomy
  • oestrogen therapy
21
Q

what cancer are androgen insensitivity syndrome at higher risk for?

A

testicular cancer due to undescended testes