Developmental Abnormalities

Question 1

What is Klinefelter syndrome?

Answer 1

XXY phenotype in MALES that present with women like external features

Question 2

What leads to the female external appearance in Klinefelter?

Answer 2

Loss of sertoli cells results in loss of inhibin and increased FSH

FSH then stimulates aromatase in gonads and increases estrogen

Leading to female secondary sex characteristics at puberty

Question 3

Describe androgen insensitivity syndrome

Answer 3

XY phenotypic “female” that presents with amenorrhea due to lack of peripheral action of testosterone receptors

Question 4

How would FSH and LH levels present in a woman with premature ovarian failure?

Answer 4

They would be elevated due to a loss of estrogen

Question 5

How would a woman with PCOS present?

Answer 5

Female presents with amenorrhea, acne and hirsutism (and typically obesity)

Question 6

Why does hirsutism occur in PCOS?

Answer 6

Increased LH with intact ovary leads to increased testosterone production (hirsuitism). Increased T is then converted to estrogen by aromatase – increases LH (like LH surge) and inhibits FSH so no follicle development. Follicle then becomes a cyst

Progesterone test is positive for bleeding