Klinefelter's syndrome Flashcards

1
Q

Chromosomal pattern ?

A

47XXY

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2
Q

Main pathogenesis of KS ?

A

1.Testicular dysgenesis
2.Leydig cell dysfunction

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3
Q

Testicular dysgenesis fate ?

A

Seminiferous tubule fibrosis
- sertoli cell
- inhibin
+ FSH

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4
Q

Leydig cell dysfunction fate ?

A
  • lEYDIG cell
  • testosterone
    + LH
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5
Q

Lab Dx ?

A

+ FSH
+ LH
- T
+ estrogen

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6
Q

Pituitary + FSH + LH = name ?

A

Hypergonadotropic Hypogonadism

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7
Q

Presentation of KS ?

A
  • Infertility - Azoospermia
  • Gynecomastia
  • Inc Height
    Testicular atrophy
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8
Q

why gynecomastia in KS ?

A
  • T
    + Estrogen
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9
Q

why Inc height in KS ?

A

SHOX gene present in X gene
as Excess X gene
excess Height

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10
Q

Risk of KS ?

A

Testicualar + Breast Cancer + Mitral valve prolapse

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11
Q

why LH + ??

A

As T -
LESS (-) feedback to pituitary gland

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12
Q

why FSH + ??

A

As Inhibin
LESS (-) feedback to PG

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13
Q

Picture presentation of KS ?

A

Breast developement
wide hips
small testicular size
narrow shoulders
poor beard growth

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