Klinefelter's syndrome Flashcards
Chromosomal pattern ?
47XXY
Main pathogenesis of KS ?
1.Testicular dysgenesis
2.Leydig cell dysfunction
Testicular dysgenesis fate ?
Seminiferous tubule fibrosis
- sertoli cell
- inhibin
+ FSH
Leydig cell dysfunction fate ?
- lEYDIG cell
- testosterone
+ LH
Lab Dx ?
+ FSH
+ LH
- T
+ estrogen
Pituitary + FSH + LH = name ?
Hypergonadotropic Hypogonadism
Presentation of KS ?
- Infertility - Azoospermia
- Gynecomastia
- Inc Height
Testicular atrophy
why gynecomastia in KS ?
- T
+ Estrogen
why Inc height in KS ?
SHOX gene present in X gene
as Excess X gene
excess Height
Risk of KS ?
Testicualar + Breast Cancer + Mitral valve prolapse
why LH + ??
As T -
LESS (-) feedback to pituitary gland
why FSH + ??
As Inhibin
LESS (-) feedback to PG
Picture presentation of KS ?
Breast developement
wide hips
small testicular size
narrow shoulders
poor beard growth