Pathology - Sex Chromosome Disorders Flashcards
Aneuploidy in sex chromosome disorders is most commonly due to what?
meiotic nondisjunction
Karyotype of Klinefelter Syndrome
47, XXY
What is a common cause of hypogonadism in an infertility work-up?
Klinefelter Syndrome
What sex disorder has this description?
testicular atrophy, long extremities, gynecomastia, female hair distribution
Klinefelters (47, XXY)
Lab values in Klinefelter Syndrome
Dysgenesis of seminiferous tubules -> decreased inhibit B -> increased FSH.
Abnormal Leydig cell function -> decreased testosterone -> increased LH -> increased estrogen.
What sex disorder has an inactivated X chromosome (Barr body)
Klinefelters (47, XXY)
Klinefelter patients are at risk for what?
testicular germ cell tumors
Karyotype of Turner Syndrome
45, XO
Most common cause of 1° amenorrhea?
Turner Syndrome
If Turner syndrome is due to mitotic error (mosaicism) what is the karyotype?
45,XO/46,XX
Lab values in Turner Syndrome
decreased estrogen leads to increased LH and FSH.
Associations with Turner Syndrome (4)
bicuspid aortic valve, coarctation of aorta, lymphatic defects (result in webbed neck or cystic hygroma; lymphedema in feet, hands), horseshoe kidney
What sex chromosome disorder has ovarian dysgenesis?
Streak Ovary is seen in Turners
Who gets Menopause before menarche
Turner Patients
Karyotype fitting description: Phenotypically normal (usually undiagnosed), very tall. Normal fertility. May be associated with severe acne, learning disability, autism spectrum disorders.
Double Y males (XYY)
