16 yr old with primary amenorrhea

[barbmkay]

I have a 16 year old daughter with amenorrhea.  She started to develop around 9  but never seemed to fully develop.   Around 13, she lost 15 lbs (from 118 to 103). This was due to she started eating healthy and was very active.   She stayed around 107 for a little more than 2 yrs.  In Aug10, she suddenly started to gain weight.but there was no change in eating or activity.  She has contd to gain weight since then and has gained over 40 lbs now.  She has a round face and she doesn’t look like herself.  She is moody, nauseous, hot flashes & of course, depressed.  I started out taking her to a GYN in Oct10.  They said they felt she looked good and asked why I wanted her to start her period so much. They did do an external ultrasound which shows she does have a uterus and ovaries but they are very small & the left ovaries have fluid around it.  I then started taking her to an endo.  Here are some of the test results:
Tsh 1.11, free T4 .8, LH 3.0, FSH 8.7, testosterone .48, Westegren sedi  8,  AST 24, ALT 20, ALK 72(low), Bilirubin .3, lymphocyte 19.4 –  cortisol which I don’t have the value but was told it was normal.  However, her urine output was 674 cc in a 24 hr period. (FYI she did have Urinary reflux when she was 4 and has surgery to correct it.Fasting glucose was 103. Prolactin 6, GH 8.7, Somatomodin 406.

She did have a GnRH test done – her LH and FSH didn’t change after an hour after receiving the hormone (Estradoil was 24, LH was 3.0 and FSH was 8.7) but 24 hrs later it did increase to estradiol 210, LH 74.9 and FSH 23.4.  The endo stated that she believes she has hypogonadism.  They did an MRI.  Which showed her pituitary to be asymmetrical with the right side slightly more prominent than the left and a 3-4 mm area that filled in with contrast & suspious for a microadenoma.  

We saw neurosurgeon that says her labs aren’t bad enough to be concerned with & it isn’t causing her problems

Can you please tell me where i should turn to next?  

[barbmkay]

thank you everyone for your thoughts and recommendations.  I am trying to get her into NIH.  Keep your fingers crossed.  I post any updates.   I just know something is not right and it is so frustrating that they doctors aren't helping more.  I will also inquire more about her IGF level - maybe they overlooked that - her GH was 8.7 which may be high depending on pre-ambulation 5, and post stimulation >7, which they just sent her after her 9 am doctor visit for the lab work so not sure which one she would fall under.

thank you!!

[horselip]

The normal range for somatomedin-c (IGF) for a female 16 to 17 years old: is 94-231 ng/ml
so it appears to me that your daughter's level is double what it should be. I am thinking that acromegaly must be ruled out. esp since the symptomss can overlap with Cushing's. maybe this is a path that is being overlooked?

[rumpled]

Cushing's can be very difficult to get diagnosed (I had it) as most doctors think is is rare etc. You are better off with a neuro-endo if your endo is not one, and at a pituitary center. There is no one test for Cushing's as you have to identify not only the elevated cortisol but also the source of the cortisol which is most likely pituitary in the case of your daughter.
Get copies of everything and please see a neuro-endo.

[barbmkay]

I am not 100% sure of the normal value for Somatomedin for a 16 yr old  but was told it was fine.  However, when I did a little research, it seems like she should have fasted etc before testing GH and Somatomedian, my daughter's was just a random draw - done after the appt with the neurosurgeon.  She is currently seeing a endo and she saw a neurosurgeon - they both say she is fine and no follow up is needed.  I am very frustrated, I am trying to get her to be seen by someone else.  

Thanks for your comments - any help, recommendations are greatly appreciated.

[Daniel M Prevedello, MD]

Dear Barbmkay,

Yes, it is not easy. The 24h urine free cortisol level  is still the standard. She must be seen by a neuro endocrinologist.

[horselip]

Hiya-
I just was scanning some of the posts and wandered what the normal Somatomedin level for a female your daughter's age is? it looked kind of high to me but then am am growth hormone deficient and 47 years old. So I am lucky when my own levels are 150 and I am on replacement. Horselip

[barbmkay]

Thank you - i am concerned about cushings due to the rapid changes in her weight and now she has a round face.  Cushings is hard to diagnose correct?  And sometimes several 24 hr urine collections are needed?  Or do you know the best way to diagnose Cushings in the "beginning stages"?

[Daniel M Prevedello, MD]

Dear Barbmkay

A microadenoma in the MRI with normal pituitary profile is usually just followed and the MRI is repeated in one year or so. However, if the patient has features of Cushing' s disease for instance, further investigation is required. It requires collection of urine and saliva in order to investigate overproduction of steroids.