endocrine disorders Flashcards

1
Q

how are these disorders classified?

A
  • congenital
  • failure of full maturation at puberty
  • acquired

-> only detected when there are problems conceiving

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2
Q

what causes androgen insensitivity syndrome?

A
  • occurs in males
  • insensitivity of fetus to androgens (T)
  • leads to wolffian duct degeneration and are Born with female external genitalia
  • mutations to the AR
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3
Q

what do patients with a 5-AR mutation present with?

A
  • sexual ambiguity at birth
  • appear female
  • genetically male (46XY)
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4
Q

what causes kallmann syndrome?

A
  • failure of the migration of GNRH secreting neurons to the hypothalamus during development
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5
Q

what are the main risk factors for precocious puberty?

A
  • -> idiopathic (unknown)
  • -> environmental or endocrine disruptors
  • -> obesity (estrogen secretion from adipocytes)
  • > peripheral, atypical hormone production ( adrenal hyperplasia) or tumours
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6
Q

what characterises delayed puberty?

A

–> absence of SSC by 14 years (girls) or 16 yrs (boys)

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7
Q

define the key terms
normal menstrual cycle

Amenorrhea

Oligomennorrhea

A

–> 28-32 days

–> absence of menstrual cycles > 6 months

–> cycles are irregular (<9 year)

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8
Q

what are the signs of adult endocrine disorders?

A
  • oligomenorrhoea or AM
  • infertility
  • estrogen deficiency (hot flushes, libido)
  • hyperandrogenism
  • hirsutism, acne, alopecia (baldness)
  • galactorrhea
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9
Q

what hormones do we test for diagnostically?

A
  • FSH / LH–> days 2/3 tells us the ovarian reserve
  • progesterone at day 21 to tell us ovulation

( compare these values to normal values on axis)

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10
Q

what are the signs of premature ovarian failure?

A
  • amenorrhea
  • low oestrogen levels
  • high FSH/LH (loss of -ve)
  • prior to age of 40
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11
Q

what happens in turners syndrome?

A

XO

  • normal oocyte growth requires both X -> oocyte death
  • normal ovary development requires normal germ cells –> ovarian dysgenesis
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12
Q

how can we preserve eggs during chemotherapy?

A

• Freezing embryos – need partner ~25% (IVF)
• Freezing eggs – less successful ~10% –> male partner not needed
• Time delay, ovarian stimulation ->few months –> cant take a lot of hormones
Freezing ovarian tissue – experimental - since 2004

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13
Q

what happens to a female at an increasing age?

A
  • FSH and LH rise
  • AMH declines
  • antral follicle count decreases
  • ovarian reserve decreases
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14
Q

what are some central causes of endocrine disorders?

A
  • hypothalamic / pituitary
  • gonadotrophin levels low or absent due to problems wit hypoT or PG
  • low FSH/LH
  • low estrogen levels too
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15
Q

what is hyperprolocatinaemia?

A
  • XS PLN secretion from lactotrophs of APG
  • suppresses release of FSH/LH
  • prolactin secreting tumours of these cells
  • tumours affecting PG stalk suppressing DA release (inhibits usually)
  • DA antagonists used to treat schizophrenia
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16
Q

what is PCOS?

A
  • polycystic ovaries on ultrasound (multiple follicle development)

-

17
Q

what are the symptoms of PCOS?

A
  • oligomenorrhoea
  • amenorrhea
  • hirsutism
  • obesity
  • infertility
18
Q

what is dysmenorrhea and what are the two different forms?

A
  • painful menstruation
  • primary –> higher levels of endometrialPG / uterine hypercontractility
  • secondary –> endometriosis ( extra-ovarian endometrial growth)
19
Q

what are the presenting symptoms of male disorders?

A
  • loss of libido
  • infertility
  • reduced testicular volume
  • gynecomastia
  • loss of body hair
  • decreased muscle mass
20
Q

how can we diagnose male disorders?

A
  • lower T levels

- look at FSH/ LH levels to see if the problem resides in testis or brain

21
Q

what are the primary causes of male disorders?

A
  • testicular insensitivity / damage
  • loss of T levels from gonads
  • high FSH/ LH due to absence of feedback from T

–> low levels of FSH/LH are indicative of damage to HPG axis (brain)

22
Q

what is Klinefelter syndrome?

A
  • 47 XXY
  • 2/3rds of chromosomal abnormalities attending for infertility

–> azoospermia observed

pea-sized testes –> due to low T but high FSH/LH levels

23
Q

what are the central causes of male disorders ?

A
  • gonadotrophin secretion is low or absent due to problems with HPG
  • low FSH/ LH
24
Q

what are the associated risks with testosterone replacement ?

A
  • prostate cancer
  • atrophy of testes azoospermia
  • polycythaemia
  • CVS hypertrophy
  • arrhythmias
  • 3ml testes
25
Q

treatment of male hypogonadism ?

A
  • weight loss ( estrogen)
  • aromatase inhibitors
  • block estrogen receptor
  • give HCg -> LH and HCG share the same receptor
  • adipocytes –> estrogen -> weight loss prevents this
  • exogenous Testosterone –> correct levels ensured or too much can become inhibitory
26
Q

how are endocrine disorders classified?

A
  • hypothalamic / PG disease (secondary or central)
  • gonadal damage -> peripheral/ primary)
  • PCOS –> common