Primary amenorrhea

Question 1

Patient presents with absent breasts, but uterus is present. What presumptions can be made due to the lack of breasts?

Answer 1

Estrogen is not being produced by the gonads bc of hypothalamic pituitary failure, lack of ovarian follicles, or lack of two active X chromosomes

Question 2

Patient presents with absent breasts, but uterus is present. What tests can help distinguish the etiology of absent breasts in a pt primary amenorrhea?

Answer 2

FSH level; identifies is estrogen lack is caused by ovarian failure (high FSH) or hypothalamic pituitary failure (low FSH)

Question 3

Patient presents with absent breasts, but uterus is present. What presumptions can be made due to the presence of the uterus?

Answer 3

The Y chromosome is NOT present

Question 4

Patient presents with absent breasts, but uterus is present. What tests can distinguish the etiology of the uterus’ presence in a pt primary amenorrhea?

Answer 4

GnRH stimulation; identifies whether the hypothalamus or pituitary has failed

If hypothalamic failure (LH rises)

If pituitary failure (Lack of LH response)

Question 5

Patient presents with absent uterus, but breasts are present. What presumptions can be made due to the presence of breasts?

Answer 5

Indicates estrogen was or is being produced by the gonads

Question 6

Patient presents with absent uterus, but breasts are present. What presumptions can be made due to the lack of uterus?

Answer 6

Indicates either mullerian agenesis in an otherwise normal female or the patient has a Y chromosome present

Question 7

Patient presents with absent uterus, but breasts are present. What tests can distinguish the etiology of the presence of breasts in a pt primary amenorrhea?

Answer 7

Testosterone level

If there are female testosterone levels, the patient has 46 XX with mullerian agenesis

If there are male testosterone levels, the patient has 46 XY with androgen insensitivity

Question 8

Patient presents with absent uterus, but breasts are present. What tests can distinguish the etiology of the absence of the uterus in a pt primary amenorrhea?

Answer 8

Karyotyping

Can confirm the genetic sex is male with a lack of androgen receptors. If so, the gonads should be REMOVED to prevent malignant transformation

Question 9

Patient presents with absent breasts and absent uterus, but female external genitalia. What presumptions can be made due to the lack of breasts?

Answer 9

Indicates estrogen is NOT being produced by the gonads b/c of gonadal agenesis, agonadism, or rare gonadal enzyme deficiencies

Question 10

Patient presents with absent breasts and absent uterus, but female external genitalia. What presumptions can be made due to the lack of uterus?

Answer 10

Indicates the patient has a Y chromosome with TESTES that produced MIF at one time

Question 11

Patient presents with absent breasts and absent uterus, but female external genitalia. What presumptions can be made due to the lack of uterus?

Answer 11

Indicates that NO TESTS were present to produce testosterone when the external genetalia was formed

Question 12

Patient presents with absent breasts and absent uterus, but female external genitalia. What tests can distinguish the etiology of this condition?

Answer 12

Karyotyping of 46 XY

An elevated gonadotropin level and a testosterone level in the female range confirms gonadal agenesis or agonadism

Gonadal bx is needed to dx rare enzyme deficiencies

Question 13

Patient presents with breast and uterus present. What tests can distinguish the cause of primary amenorrhea in a pt primary amenorrhea?

Answer 13

These pts should be worked up with beta-hCG, TSH, Prolactin, Progesterone Challenge test (bleeding within 2 weeks of progesterone)

Question 14

Most common cause of primary amenorrhea

Answer 14

Gonadal failure

Question 15

Second most common cause of primary amenorrhea

Answer 15

Congenital absence of the uterus (uterine agenesis)

Rokitansky Kuster-Hauser Syndrome (MRKH)

Question 16

Patient presents with primary amenorrhea and has no breasts, but uterus is present. What is the ddx?

Answer 16

Ovarian failure

Pituitary failure

Hypothalamic failure

Question 17

Patient presents with primary amenorrhea and has no breasts, but uterus is present. How can the ddx be narrowed down?

Answer 17

If FSH is increased –> ovarian failure

Perform GnRH stimulation, if LH does not increase –> pituitary failure

Perform GnRH stimulation, if LH increases –> hypothalamic failure

Question 18

Patient presents with primary amenorrhea and has no uterus (the external genitalia is female but leads to a blind vaginal pouch). Breasts are present. What is the ddx?

Answer 18

Androgen insensitivity (“Testicular feminization”)

Mullerian agenesis “Mayer Rokintansky Kauser Syndrome”

Question 19

Patient presents with primary amenorrhea and has no uterus (the external genitalia is female but leads to a blind vaginal pouch). Breasts are present. How do you narrow down the ddx?

Answer 19

Get a serum testosterone or karyotype

Patient presents with primary amenorrhea and has no uterus (the external genitalia is female but leads to a blind vaginal pouch). Breasts are present. What is the ddx?