L4: Sex Chromosomal Disorders

Question 1

Examples of Sex Chromosomal Disorders

Answer 1

• Turner syndrome
• Klinefelter syndrome

Question 2

Karyotyping of Turner Syndrome

Answer 2

Monosomy of sex chromosomes —> 45,X

Question 3

Incidence of Turner Syndrome

Answer 3

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

Question 4

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

Answer 4

Turner Syndrome

Question 5

Etiology of Turner Syndrome

Answer 5

Question 6

CP of Classic Turner Syndrome

Answer 6

• Sexual
• Head
• MSK
• Lymphatic
• Heart
• Kidney
• Endocrine
• Mentality

Question 6

CP of Classic Turner Syndrome

• Sex Development

Answer 6

Question 7

CP of Classic Turner Syndrome

• Head

Answer 7

Question 8

CP of Classic Turner Syndrome

• MSK

Answer 8

Question 9

CP of Classic Turner Syndrome

• MSK (Shield Chest)

Answer 9

broad chest with widely separated nipples

Question 10

CP of Classic Turner Syndrome

• MSK (Webbed Neck)

Answer 10

skin folds along the side of the neck

Question 11

CP of Classic Turner Syndrome

• Lymphatic

Answer 11

• Cystic hygroma
• Lymphedema of dorsum hands and feet in the neonatal period

Question 12

CP of Classic Turner Syndrome

• Congenital Heart Disease

Answer 12

Question 13

CP of Classic Turner Syndrome

• Kidney

Answer 13

Question 14

CP of Classic Turner Syndrome

• Endocrine

Answer 14

• Type 2 D.M.
• Goiter (Hashimoto’s thyroiditis)

Question 15

CP of Classic Turner Syndrome

• Mentality

Answer 15

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

Question 16

Time of Dx of Turner Syndrome

Answer 16

Question 17

Different Karyotypes of Turner Syndrome

Answer 17

Question 18

Different Karyotypes of Turner Syndrome

• 45, X

Answer 18

Classic Turner syndrome

Question 19

Different Karyotypes of Turner Syndrome

• Xp-

Answer 19

• Short stature (mainly)
• Congenital malformations

Question 20

Different Karyotypes of Turner Syndrome

• Xq-

Answer 20

Only gonadal dysgenesis

Question 21

Different Karyotypes of Turner Syndrome

• ISO X

Answer 21

Classic Turner syndrome + Hypothyroidism (f Ab)

Question 22

Different Karyotypes of Turner Syndrome

• Mosaic TS

Answer 22

Classic Turner syndrome + Pulmonary stenosis

Question 23

Different Karyotypes of Turner Syndrome

• Ring X

Answer 23

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

Question 24

Turner Syndrome & Pregnancy

Answer 24

Question 25

Associated Medical Problems with **Turner Syndrome**

Answer 25

Question 26

Associated Medical Problems with **Turner Syndrome** - MSK

Answer 26

Question 27

Associated Medical Problems with **Turner Syndrome** - Genital

Answer 27

Question 28

Associated Medical Problems with **Turner Syndrome** - Endocrine

Answer 28

* Obesity * Non-insulin DM * Hypothyroidism

Question 29

Associated Medical Problems with **Turner Syndrome** - Others

Answer 29

- HTN - Psychosocial

Question 30

The 2 main medical problems in Turner syndrome

Answer 30

- Short Stature - Infertility

Question 31

TTT of **Turner Syndrome**

Answer 31

Question 32

Phenotype in **Turner Syndrome**

Answer 32

Female

Question 33

Dx of **Turner Syndrome**

Answer 33

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

Question 34

There are certain genotype - phenotype correlations in Turner syndrome patients

Answer 34

...

Question 35

Incidence of **Klinefelter Syndrome**

Answer 35

1/1000 male birth - The most common X chromosomal abnormality - The most common genetic cause of hypogonadism

Question 36

What is the most common cause of: - **X Chromosomal Abnormality** - **Hypogonadism & Infertility in Male**

Answer 36

Klinefelter Syndrome

Question 37

Pathogenesis of **Klinefelter Syndrome**

Answer 37

Question 38

Karyotyping in **Klinefelter Syndrome**

Answer 38

Question 39

Relation between number of x chromosomes & **Klinefelter Syndrome**

Answer 39

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

Question 40

Pathology in **Klinefelter Syndrome**

Answer 40

Question 41

CP of **Klinefelter Syndrome**

Question 42

CP of **Klinefelter Syndrome** - In boy of 15 - 16 years

Answer 42

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

Question 43

CP of **Klinefelter Syndrome** - In Adolesence & Young adult

Answer 43

- Tall - Long arms and legs

Question 44

CP of **Klinefelter Syndrome** - In Adulthood

Answer 44

Question 45

Complications of **Klinefelter Syndrome**

Answer 45

Question 46

TTT of **Klinefelter Syndrome**

Answer 46

Testosterone (11-12y): - Prevent osteoporosis - Development of 2y sexual character