Sex Chromosomal Disorders Flashcards
Karyotyping of Turner Syndrome
Monosomy of sex chromosomes —> 45,X
Etiology of Turner Syndrome
CP of Classic Turner Syndrome
- Sexual
- Head
- MSK
- Lymphatic
- Heart
- Kidney
- Endocrine
- Mentality
CP of Classic Turner Syndrome
- Sex Development
CP of Classic Turner Syndrome
- Head
CP of Classic Turner Syndrome
- MSK
CP of Classic Turner Syndrome
- MSK (Shield Chest)
broad chest with widely separated nipples
CP of Classic Turner Syndrome
- MSK (Webbed Neck)
skin folds along the side of the neck
CP of Classic Turner Syndrome
- Lymphatic
- Cystic hygroma
- Lymphedema of dorsum hands and feet in the neonatal period
CP of Classic Turner Syndrome
- Congenital Heart Disease
CP of Classic Turner Syndrome
- Kidney
CP of Classic Turner Syndrome
- Endocrine
- Type 2 D.M.
- Goiter (Hashimoto’s thyroiditis)
CP of Classic Turner Syndrome
- Mentality
Normal or subnormal (I.Q. may be high)
Different Karyotypes of Turner Syndrome
The 2 main medical problems in Turner syndrome
- Short Stature
- Infertility
TTT of Turner Syndrome
Karyotyping in Klinefelter Syndrome
CP of Klinefelter Syndrome
CP of Klinefelter Syndrome
- In boy of 15 - 16 years
Pubic & axillary hair in presence of infantile testis
- (Adrenal gland is intact)
CP of Klinefelter Syndrome
- In Adolesence & Young adult
- Tall
- Long arms and legs
CP of Klinefelter Syndrome
- In Adulthood
Complications of Klinefelter Syndrome
TTT of Klinefelter Syndrome
Testosterone (11-12y):
- Prevent osteoporosis
- Development of 2y sexual character
