Repro path

Question 1

Klinefelter syndrome: presentation

Answer 1

XXY
1) testicular atrophy,
2) eunuchoid body shape
2) tall
4) long extremities,
5) gynecomastia
6) female hair distribution 
\+developmental delay

Question 2

Klinefelter syndrome: lab

Answer 2

XXY

1) Barr body
2) common cause of hypogonadism in infertility workup

Question 3

Klinefelter syndrome: pathophys

Answer 3

XXY
1) Dysgenesis of seminiferious tubule -> low inhibin -> high FSH

2) abnormal Leydig cell function -> low testosterone -> high LH -> high estrogen

Question 4

Turner syndrome: symptoms

Answer 4

XO

1) short stature (if left untreated, <5 feet)
2) ovarian dysgenesis (streak ovary with infertility)
3) shield chest
4) bicuspid aortic valve
5) defects in lymphatics (webbing of neck, cystic hygroma, lymphadema of hands and feet)
6) Preductal coarctation of the aorta
7) horseshoe kidney
8) dysgerminoma

Question 5

Turner syndrome: lab

Answer 5

1) most common cause of 1’ amenorrhea
2) no Barr body
3) menopause before menarche
4) low estrogen so high LH and FSH

Question 6

Double Y males

Answer 6

XYY

1) phenotypically normal,
2) very tall,
3) severe acne
4) antisocial behavior in 1-2%
5) normal fertility

Small percentage with autism spectrum