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PED Algemeen > Klinefelter syndroom > Flashcards

Klinefelter syndroom Flashcards

1
Q

Wat is het karyotype van Klinefelter syndroom?

A

47,XXY

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2
Q

PF klinefelter syndroom?

A

Testicular dysgenesis leads to:

  • Seminiferous tubules dysgenesis → loss of Sertoli cells → ↓ inhibin B → ↑ FSH
  • Leydig cell dysfunction → ↓ testosterone → ↑ LH
  • Both ↑ LH and ↑ FSH lead to increased conversion of testosterone to estrogen.
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3
Q

Kliniek Klinefelter syndroom?

A
  • Eunuchoid groeipatroon: lang, smal, lange extremiteiten, vertraagd sluiten groeischijven
  • Gynaecomastie
  • Testiculaire atrofie
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4
Q

risicofactor syndroom van Klinefelter?

A

Testiculaire kanker

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5
Q

Diagnose van syndroom van klinefelter?

A

Karyotypering

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6
Q

Behandeling syndroom van klinefelter?

A

Levenslange testosteron substitutie

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PED Algemeen (9 decks)

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