We've met with 2 different fertility specialists when we lived in Texas and both said my infertility issues were probably gonadal dysgenesis, yet no one could tell me for sure. Why can't they do adequate testing to know for sure what the issue is? They tested for all the hormones (FSH, TSH, LH, E2, and AMH)
Let's breakdown what gonadal dysgenesis is... according to the National Center for Biotechnology Information (NCBI):
Gonadal dysgenesis is a genetic condition due to errors in cell division and or alterations in genetic material leading to complete or partial loss of gonadal development. The development of gonadal dysgenesis begins early on either at fertilization or shortly after in early stages of the embryo and fetus. Complete gonadal dysgenesis genotypes are known as either 46, XX or 46, XY. These patients with full gonadal dysgenesis exhibit streak gonads, female external genitalia and hypogonadotropic hypogonadism with associated amenorrhea and lack of secondary sexual characteristics.
46, XX complete gonadal dysgenesis is inherited in an autosomal recessive pattern, and several loci and genes have been implicated, however, the exact intricacies of what causes this type of gonadal dysgenesis is unclear. Inactivating mutations in the FSHR gene coding for the follicle stimulating hormone receptor is one of these genes linked to 46, XX dysgenesis mainly in the Finnish population. Mutation in this receptor leads to blocks in follicular development that cause the follicles to remain in the primary or antral stage. Depletion of the follicles is also an observation with this mutation.
https://www.ncbi.nlm.nih.gov/books/NBK539886/#:~:text=46%2C%20XX%20complete%20gonadal%20dysgenesis,of%20gonadal%20dysgenesis%20is%20unclear.
Ok, that was A LOT of medical mumbo-jumbo that needs to be broken down. I'm going to focus on the female aspects of this issue since we know I'm female from my chromosomal analysis (46, XX) and the fact I have a uterus and female external genetailia. Let's start at the top:
-Streak gonads refer to the streaked tissue the ovaries are comprised of.
-Hypogonadotropic hypogonadism (that's a mouthful) means that the pituitary or hypothalamus gland does not release the hormones resulting in the ovaries releasing little to no sexual hormones.
In a nutshell, my brain doesn't release the hormones needed to stimulate my ovaries to produce eggs for fertilization.
Now that we're in Maine... we have discovered a new "technology" called NaPro Technology. Natural Procreation. Ah, recognition. We have been working with a NaPro counselor since March charting my body's natural cycle via cervical mucus and waiting to get some labs done with the actual doctor so we can figure out the next steps. This process keeps the child bearing practice good in the eyes of the church which is our goal.
Through my own research, I found this little nugget of information that has never been mentioned to me as of yet:
Treatment depends on the source of the problem, but may involve:
- Injections of testosterone (in males)
- Slow-release testosterone skin patch (in males)
- Testosterone gels (in males)
- Estrogen and progesterone pills or skin patches (in females)
- GnRH injections
- HCG injections
The right hormone treatment will cause puberty to start in children and may restore fertility in adults. If the condition begins after puberty or in adulthood, symptoms will often improve with treatment.
The right hormone treatment...may restore fertility in adults. Seriously?!!! Maybe I just need some hormones and then things will work? I'm literally on the verge of hopeful/happy tears right now. Maybe I don't have to give up on this dream after all.
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