Ovarian Failure

[Belinda709]

2 years ago my teenage daughter diagnosed with POF at 14 yrs old. No cause found. Normal Karyotype, no history in the family. She was and is a very very athletic, fit healthy girl. FSH over 100 LH in the 80s Estrogen was 80 I think. Prolactin normal. She had normal periods for a couple of years and then they just stopped. I cannot seem to accept this diagnosis and move on! I think I'll need a psychiatrist soon! My daughter is happy, healthy and getting on with her life as sixteen year olds do. She is on BCP. My question is: Is there anything else this could possibly be? I just cannot understand how this could happen to a fit athletic girl like her. I'm going mad. I've read all the literature and it seems it can't possibly be anything to do with the pituitary (gonadotroph adenoma etc) as her estrogen is so low. Please, is there anything else it could be? I know I need to accept the diagnosis and move on eventually but first I need to know there is no way it could be anything else.
Thank you.
ps. My daughter really is fine about all this (for now...) - Only Mother going mad!

[Deanna L Aftab Guy, MD]

POF I am thinking is ovarian failure-this is usually due to autoimmune reasons and many many times we never know. When the pituitary hormones are high and the estrogen response is low there is concern that the ovaries are just not responding, it could be an fsh or lh receptor mutation and this can be tested for with some testing with blood sent to certain experts in europe, ultimately though the treatment is similar, replacement of the hormones that are needed to cycle. She makes some estradiol so she does not appear to have complete ovarian failure.
I would start with a pediatric endocrinologist and also a reproductive endocrinologist, not because you want fertility yet but because this is what they do, someone at that facility may be studying this and have some other tests that can help reveal a more specific etiology.
Thyroid functions and antibodies are important, celiac antibodies are also important, evaluation for possible ANA antibodies for lupus are also a far reach but also part of workup for ovarian failure.  Let us know how she does.
This is not pituitary just as you have read (and you are very well informed-probably have more info on this than I do!)
It is ovarian, the cause may never be known.
There is a leuprolide stim test that we do to assess the ovarian response to gonadotropins and maybe this will give information if she is responsive or not. But honestly if this were my patient I would use the brains of my reproductive endocrinology folks to assist me in the diagnosis.

[Belinda709]

Thank you Deanna for your reply.
I am very grateful. It's reassuring to know it is definitely nothing to do with the pituitary. That would be awful and I'm relieved. I also suspect it is autoimmune - there is a slight history of various autoimmune problems in both my husbands and my family although nothing like Ovarian Failure - mostly thyroid.
Many Thanks again -
Belinda