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Endo > gonads > Flashcards

gonads Flashcards

1
Q

where do the female and male sex organs develop from?

A

gonads -> ovaries/testes

mullerian = paramesonephric ducts > female tubes, uterus, vagina

wolffian = mesonephric ducts > epididymis, vas def, seminal vesicles

external genitalia

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2
Q

key players in foetal male development

A

SRY on Y chr causes testicular development

  1. anti-mullerian hormone from sertoli cells
  2. testosterone from Leydig - stimulates wolffian duct differentiation
  3. dihydrotestosterone i..e androgen - develops prostate and external genitalia
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3
Q

foetal panhypopit vs 5alpha reductase deficiency will cause what to the foetus?

A

foetal panhypopit: LH causes Leydig to produce testosterone > micropenis, but normal structure

5alpha red def: makes dihydrotestosterone, so will have undervirulised male, abnormal external genitalia

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4
Q

when does sex determination happen in foetal life?

A

begins at 6 weeks

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5
Q

main types of isolated gonadotropin deficiency

A
  1. Kallman syndrome
    - 60% less smell
    -* AD/R in 85%, X-linked in 15% of KAL1 gene*
  2. isolated gonadotropin deficiency
    - normal smell, no gene
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6
Q

what is the hypothal-pit-gonadal axis?

A

hypothal = GnRH
anterior pit = LH, FSH
gonads = testosterone/oestradiol and progeserone

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7
Q

1’ vs 2’ hypogonadism lab tests

A

1’ = low T, high LH/FSH
2’ = low T, LH and FSH

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8
Q

extremely important syndromic causes of hyper vs hypogonadotropic hypogonadism in males

A

hyper i.e. 1’:
1. Klinefelter
2. Noonan

hypo i.e. 2’:
1. PWS
2. Bardet-Biedl
3. Kallman

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9
Q

comment on the body habitus of hypergonadotropic hypogonadism in males

A

eunuchoid
- epiphyses close later, so armspan&raquo_space; height

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10
Q

what are the roles of FSH and LH in males vs women

A

Males:
FSH - sperm production
LH - causes Leydig to produce T

Females:
FSH - stimulate follicles
LH - stimulate ovulation

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11
Q

most common cause of primary ovarian insufficiency in females

A

Turner!!!

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12
Q

extremely important syndromic causes of primary hypogonadism in females (6)

A
  1. Turner
  2. Noonan
  3. galactosaemia
  4. Fragile-X - FMR1 carriers
  5. Ataxia-telangiectasia
  6. Fanconi anaemia
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13
Q

how to treat 1’ hypogonadism in females

A

estradot patches, upgrade dose slowly … likely every 6 months

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14
Q

2’ hypogonadism and visual problems =

A

septo-optic dysplasia

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15
Q

two most common causes of DSD with ambiguous genitalia

A
  1. CAH!
  2. mixed gonadal dysgenesis (46 XX/XY mosaicism) - chromosomal mosacism disturbs the differentiated of the gonads

ovotesticular dsd’s i.e. hermaphrodites are very rare

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16
Q

palpable gonad is most likely of what origin?

A

testicular - hence Y material present

17
Q

palpable gonad and ambiguity =

A

something wrong with androgens (pituitary/testicular/adrenal)

18
Q

palpable gonad + uterus / mullerian remnant present =

A

insufficient AMH (Sertoli cells)

19
Q

thought process for an undervirilised male (46, XY DSD)

A
  1. disorder of testicular development
    - Denys-Drash, WAGR, gonadal agenesis
  2. deficiency of testicular hormones
    - 17-OH deficiency
  3. defect in androgen action
    - AIS, 5-alpha reductase mutations, Smith-Lemli-Opitz
20
Q

what is a way to work through a problem of DSD

A
  1. XX or XY?
  2. 17-OH pregnenolone /progesterone levels > CAH
  3. US for male/female parts
  4. test levels of AMH
  5. if male levels of AMH:
    XX - test response to T
    XY - test response to hCG
21
Q

5-alpha reductase deficiency - key features

A
  • 46 XY DSD - abnormal external genitalia, internal normal
  • AR mutation SRD5A2
  • most raised female until puberty, marked masculinisation + phallic growth
22
Q

AIS - key features

A
  • X-linked mutation in androgen receptor
  • testes still develop and produce T and AMH (so no uterus/ovaries), but androgens don’t have effect
  • complete = female phenotype, testes usually abdominal/inguinal
  • partial = variable external phenotype, mostly male phenotype with genital ambiguity, testes usually inguinal / scrotal
  • screen for malignancy
23
Q

highest risk DSD of germ cell malignancy?

A

gonadal dysgenesis + Y chromosome + intra-abdominal gonad

24
Q

key features of pubertal gyaecomastia

A

peaks 13-14y, regresses in 18mo
oestradiol rises before T in puberty
typically painful and tender

25
Q

risk of breast cancer increased in which male patients?

A

Klinefelter - inc 20-60x!

Endo (8 decks)

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