Turner's Syndrome Flashcards

1
Q

Chromosomal pattern of turners syndorme ?

A

45XO

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2
Q

Lab Dx of TS ?

A

+FSH
+LH

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3
Q

main problem in TS ?

A

Rudimentary ovary

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4
Q

result of rudimentary ovary ?

A

Theca cell + Granulosa cell (-)
Androgen (-) = LH +
Estrogen (-) = FSH +

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5
Q

Errors in paternal meiotic non-disjuntional embryonic cell meaning ??

A

XY — XY + O —- O + X = XO

in case of male

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6
Q

mitotic non-disjunction of embryonic cell meaning??

A

Post-fertilization zygote
Female

XX – XO + XX

MOSAICISM

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7
Q

Why amenorrhea in TS ?

A
  • Estrogen
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8
Q

why short stature inTS >

A

SHOX gene
less X

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9
Q

classic findings of TS ?

A

webbed neck + shield chest

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10
Q

Cardiac manifestations of TS ?

A

Bicuspid aortic valve
Coarctation of aorta

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11
Q

COA X-ray findings in case of TS ?

A

3 -sign

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12
Q

Lymphatic obstruction case in TS ?

A

Cystic hygroma
Lymphedema

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13
Q

why cystic hygroma in TS ?

A

Lymphatic obstruction in the area of neck

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14
Q

renal manifestation of TS ?

A

Horse-shoe kidney

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15
Q

Pregnancy management of TS ?

A

IVF /
Hormone supplementation

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16
Q

Double Y = ?

17
Q

47XYY problems ?

A

tall stature
potential motor / language delay

No fertility issues

8.35AM
25.4.2025