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Y4R1 - Pediatrics I 👶 > L4: Sex Chromosomal Disorders > Flashcards

L4: Sex Chromosomal Disorders Flashcards

1
Q

Examples of Sex Chromosomal Disorders

A
  • Turner syndrome
  • Klinefelter syndrome
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2
Q

Karyotyping of Turner Syndrome

A

Monosomy of sex chromosomes —> 45,X

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3
Q

Incidence of Turner Syndrome

A
  • While common at conception and in spontaneous abortion
  • the incidence in live born female infant is low (1:5000)
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4
Q

What is the most common cause of Ovarian Dysgenesis & 1ry Ovarian Insufficiency?

A

Turner Syndrome

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5
Q

Etiology of Turner Syndrome

A
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6
Q

CP of Classic Turner Syndrome

A
  • Sexual
  • Head
  • MSK
  • Lymphatic
  • Heart
  • Kidney
  • Endocrine
  • Mentality
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6
Q

CP of Classic Turner Syndrome

  • Sex Development
A
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7
Q

CP of Classic Turner Syndrome

  • Head
A
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8
Q

CP of Classic Turner Syndrome

  • MSK
A
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9
Q

CP of Classic Turner Syndrome

  • MSK (Shield Chest)
A

broad chest with widely separated nipples

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10
Q

CP of Classic Turner Syndrome

  • MSK (Webbed Neck)
A

skin folds along the side of the neck

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11
Q

CP of Classic Turner Syndrome

  • Lymphatic
A
  • Cystic hygroma
  • Lymphedema of dorsum hands and feet in the neonatal period
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12
Q

CP of Classic Turner Syndrome

  • Congenital Heart Disease
A
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13
Q

CP of Classic Turner Syndrome

  • Kidney
A
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14
Q

CP of Classic Turner Syndrome

  • Endocrine
A
  • Type 2 D.M.
  • Goiter (Hashimoto’s thyroiditis)
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15
Q

CP of Classic Turner Syndrome

  • Mentality
A

Normal or subnormal (I.Q. may be high)

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16
Q

Time of Dx of Turner Syndrome

A
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17
Q

Different Karyotypes of Turner Syndrome

A
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18
Q

Different Karyotypes of Turner Syndrome

  • 45, X
A

Classic Turner syndrome

19
Q

Different Karyotypes of Turner Syndrome

  • Xp-
A
  • Short stature (mainly)
  • Congenital malformations
20
Q

Different Karyotypes of Turner Syndrome

  • Xq-
A

Only gonadal dysgenesis

21
Q

Different Karyotypes of Turner Syndrome

  • ISO X
A

Classic Turner syndrome + Hypothyroidism (f Ab)

22
Q

Different Karyotypes of Turner Syndrome

  • Mosaic TS
A

Classic Turner syndrome + Pulmonary stenosis

23
Q

Different Karyotypes of Turner Syndrome

  • Ring X
A

Decreased Size of the ring —–› More deletion of short and long arm - as 45, X

24
Q

Turner Syndrome & Pregnancy

25
Q

Associated Medical Problems with Turner Syndrome

26
Q

Associated Medical Problems with Turner Syndrome

  • MSK
27
Q

Associated Medical Problems with Turner Syndrome

  • Genital
28
Q

Associated Medical Problems with Turner Syndrome

  • Endocrine
A
  • Obesity
  • Non-insulin DM
  • Hypothyroidism
29
Q

Associated Medical Problems with Turner Syndrome

  • Others
A
  • HTN
  • Psychosocial
30
Q

The 2 main medical problems in Turner syndrome

A
  • Short Stature
  • Infertility
31
Q

TTT of Turner Syndrome

32
Q

Phenotype in Turner Syndrome

33
Q

Dx of Turner Syndrome

A

Karyotyping followed by FISH &/or PCR are needed to clarify the diagnosis

34
Q

There are certain genotype - phenotype correlations in Turner syndrome patients

35
Q

Incidence of Klinefelter Syndrome

A

1/1000 male birth

  • The most common X chromosomal abnormality
  • The most common genetic cause of hypogonadism
36
Q

What is the most common cause of:

  • X Chromosomal Abnormality
  • Hypogonadism & Infertility in Male
A

Klinefelter Syndrome

37
Q

Pathogenesis of Klinefelter Syndrome

38
Q

Karyotyping in Klinefelter Syndrome

39
Q

Relation between number of x chromosomes & Klinefelter Syndrome

A

Increased number of X chromosomes is associated with Increased risk of mental retardation and more dysmorphic features

40
Q

Pathology in Klinefelter Syndrome

41
Q

CP of Klinefelter Syndrome

42
Q

CP of Klinefelter Syndrome

  • In boy of 15 - 16 years
A

Pubic & axillary hair in presence of infantile testis
- (Adrenal gland is intact)

43
Q

CP of Klinefelter Syndrome

  • In Adolesence & Young adult
A
  • Tall
  • Long arms and legs
44
Q

CP of Klinefelter Syndrome

  • In Adulthood
45
Q

Complications of Klinefelter Syndrome

46
Q

TTT of Klinefelter Syndrome

A

Testosterone (11-12y):

  • Prevent osteoporosis
  • Development of 2y sexual character

Y4R1 - Pediatrics I 👶 (49 decks)

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