Path/Pathophys

Question 1

Klinefelter Syndrome

1. Gender? Chromosomes?
2. Classic Presentation
3. Labs

Answer 1

1. Male, 47 XXY

2.

Testicular atrophy, gynecomastia, learning disabilities, tall + skinny

3.

decreased inhibin B —> decreased FSH

abnormal leydig cells —> decreased testosterone

Increased LH —> increased estogen

Question 2

Turner Syndrome

1. Gender? Chromosomes?
2. Classical Presentation
3. Labs

Answer 2

1. Female, 45, XO

2.

Short, flat chest, ovarian dysgenesis (Streak ovary), webbed feet

3.

Decreased Estrogen

Increased FSH + LH

Question 3

Double Y Males

1. Presentation?
2. Associations

Answer 3

1. Usually Phenotypically normal

(normal fertility)

2.

acne, learning disability, autism

Question 4

Polycystic Ovarian Disease

1. Presentation
2. Labs
3. What are these patients at increased risk of?

Answer 4

1. Insulin Resistance + Obesity

Enlarged cystic ovaries

Androgen Excess: Hirsutism, acne

Ovarian Dysfunction: Menstrual irregularities2.

Increased LH, Decreased FSH (LH:FSH >2)

3. Endometrial hyperplasia/carcinoma

Question 5

What drug can be given to patients with polycystic ovarian disease who want to have children?

Answer 5

Clomiphine (Estrogen receptor modulator)

Metformin

(they induce ovulation)