Amenorrhea Question

[pedsmedstudent]

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Quick question on the work-up of Amenorrhea:

If the patient has primary amenorrhea, do you check FSH or Estrogen first?

 

[LouisianaDoctor]

Quick question on the work-up of Amenorrhea:

If the patient has primary amenorrhea, do you check FSH or Estrogen first?

FSH ordered if no breast development
(Central primary amenorrhea) - FSH is decreased -> GnRH stimulation test to determine if its hypothalamic or pituitary in origin
(Peripheral primary amenorrhea) - FSH is increased -> karyotype (45XO, etc)

 

[pedsmedstudent]

Thanks!

Yeah, that is what World says, but what do you do if there IS breast development? (i.e. primary amenorrhea where there is breast development but no menstruation)-- besides the beta-hCG?

 

[jace's mom]

Step Up says primary amenorrhea with secondary sex char -> US, genetic analysis.

 

[Valadi]

Thanks!

Yeah, that is what World says, but what do you do if there IS breast development? (i.e. primary amenorrhea where there is breast development but no menstruation)-- besides the beta-hCG?

Amenorrhea -> FSH -> High -> Karyo

XY
If there is breast development, palpable inguinal mass (testes) = Androgen insensitivity. The excess testosterone is converted to estrogen so they get thelarche.
No breast development, sexual infantilism until puberty = 5-alpha reductase deficiency. At puberty they will virilize but will have female genitalia (which may virilize at that time). Will have normal internal male genitalia on US. (As an aside, I remember from college that there's some South American population where this is common, and they are called 'Machihembras.' That tidbit always helps me to remember it anyway..)

XX
Amenorrhea with secondary sexual development = Anatomic anomalies - Imperforate septum, transverse, Mullerian Agenesis (aka Muller-Rochitansky, whatever it's called syndrome)
Amenorrhea low test and estrogen = Savages syndrome - failure of ovaries to respond to LH/FSH
Amenorrhea high testosterone, almost 0 estrogen = Aromatase deficiency - normal internal genitalia, ambiguous external genitalia that may virilize. Of note, it can affect the mom in utero and virilize her.

Ultrasound is a good next test in general because it let's you check to see if there are mullerian structures (which will not be present in XY patients because the Y chromosome has the SRY gene which secretes Mullerian-Inhibitory Factor which destroys these) and because it let's you see if there are tested present.

Hope this helps.

 

[PokerDoc]

Step Up says primary amenorrhea with secondary sex char -> US, genetic analysis.

I agree; FSH is not ALWAYS the correct first step

 

[isoquin]

yeah i feel like i've gotten different answers on this depending on the source. i'm pretty sure USMLE world agrees with the first responder.

 

[Cooolguy]

Amenorrhea -> FSH -> High -> Karyo

XY
If there is breast development, palpable inguinal mass (testes) = Androgen insensitivity. The excess testosterone is converted to estrogen so they get thelarche.
No breast development, sexual infantilism until puberty = 5-alpha reductase deficiency. At puberty they will virilize but will have female genitalia (which may virilize at that time). Will have normal internal male genitalia on US. (As an aside, I remember from college that there's some South American population where this is common, and they are called 'Machihembras.' That tidbit always helps me to remember it anyway..)

XX
Amenorrhea with secondary sexual development = Anatomic anomalies - Imperforate septum, transverse, Mullerian Agenesis (aka Muller-Rochitansky, whatever it's called syndrome)
Amenorrhea low test and estrogen = Savages syndrome - failure of ovaries to respond to LH/FSH
Amenorrhea high testosterone, almost 0 estrogen = Aromatase deficiency - normal internal genitalia, ambiguous external genitalia that may virilize. Of note, it can affect the mom in utero and virilize her.

Ultrasound is a good next test in general because it let's you check to see if there are mullerian structures (which will not be present in XY patients because the Y chromosome has the SRY gene which secretes Mullerian-Inhibitory Factor which destroys these) and because it let's you see if there are tested present.

Hope this helps.

good stuff, where is the info from?

 

[PokerDoc]

Also make sure you don't get so rigid in algorithms when trying to sort these things out. Allow the question stem to do some of the work for you.

for example, theres a question out there thats like, the patient has primary amenorrhea and on exam her lower extremity pulses are weak. In this case you can skip straight to karyotype because the patient has probable coarctation secondary to turners.

 

[Valadi]

good stuff, where is the info from?

My step 2 notes. so mainly uworld/whatever i got from uptodate to clarify.