Hi EasyRider,
I have genetically confirmed MAIS (my mutation is in exon 1, and others with the same mutation as me have been published that also have MAIS).
My puberty was normal. My dick and balls are normal. My body hair is of the male pattern. I don't have boobs. In other words, I developed normally.
My LH is, and has always been normal. My T is usually around 1200, although it varies; it has been as low as 800 on several occasions (morning measurements).
My ASI is not elevated (125 ish).
Furthermore, I am fertile. My sperm count isn't even lowish; its normal, as are motility and morphology.
So why did I get tested for MAIS?
I saw several endocrinologists for an unrelated health problem. I mentioned to them that I thought it was odd that I didn't have much facial hair. They told me it was normal variation, that not everyone can grow a full beard.
I checked the literature, and found the various disorders of sexual development. None of them really fit me,
particularly since most men with MAIS can grow facial hair just fine. However, I was curious because it just didn't seem normal to me that I could have such a high level of T and still go beardless.
One of my doctors agreed to "screen" me by giving me a fertility test. Normal. I went back to the research, and learned about DHT.
I knew I didn't fit the profile for 5-a reductase, particularly since I had normal genitalia and was fertile. However, I knew that facial hair was related to DHT. So I asked my doctor to test me. He agreed. It was normal. However, it was interesting to find that the ratio of T to DHT was unusually high. However, SHBG, free T, etc. were all normal.
Much like yourself, I grew up skinny, and didn't have an easy time putting on muscle. Like many others in their teens, I had mild gynecomastia (puffy nipples). None of this is unusual though, nor is it unusual to grow up with body image issues.
And although I had been dismissed by many doctors, I wanted to know for sure. So I told my doctor: "I want the test. I'll pay cash out of my pocket if I need to." He gave me the run-around. Eventually I saw a genetic counselor, and told her that "Doctor X suspects MAIS." She gave me the test. It was positive.
So what does that tell us? Here's the take-away:
- MAIS is probably underdiagnosed because it's presentation is subtle. There are probably lots and lots of people out there that have it, but will never know because the test is expensive, and the symptoms are easy to ignore as "normal variation."
- Because the presentation is so subtle, pretty much the only time MAIS is ever diagnosed is during a diagnostic workup for male infertility.
- If you're not infertile, chances are that even if you do have MAIS, you'll never even know it.
So it is possible that you too have MAIS, although statistically it's unlikely, since your ASI is not elevated. Is it impossible? Certainly not, as my own case illustrates.
Lastly, and most importantly, you have to ask yourself: If the presentation for this disease is so subtle that I may not even know I have it, is there any real value for being diagnosed?
The answer here is usually no.
This is because, typically, MAIS goes untreated. If (like Sade) you have some symptoms, then the diagnosis is useful. Likely, his symptoms will subside with higher T levels. Some people need treatment because they are infertile, and they want to father children (T has been shown to make this possible in men with MAIS as well).
As far as Sade's case goes: there aren't very many things that can result in elevated LH and T that don't also result in hyperandrogenism. This is why he was diagnosed so quickly by an AIS expert. If you try, you can come up with alternate explanations, but they would be less likely, and thus should become suspicious only if MAIS could be ruled out (e.g. by a negative genetic test). Here are a few such alternate explanations:
- Sade is in the beginning stages of primary testicular failure, and it has been progressing unusually slowly, and also has a tumor in his pituitary that is hypersecreting LH.
- Some unknown chemical agent has permanently desensitized his androgen receptors. Note that Sade has not used finasteride, nor other 5AR inhibitors.
- The polyglutamine tract in Sade's AR is unusually long, and he has an early onset of Kennedy's disease. He just hasn't had any other other symptoms present yet.
- A tumor in Sade's pituitary is hypersecreting LH, but his body has started to become insensitive to this particular kind of LH (it has happened before, strange as it sounds).
MAIS is more likely than any of these. Even if he never gets the test, it is still possible in the future to eliminate MAIS as a possibility: T should cause his LH to come down; if it doesn't, then it's not MAIS.
Here's my advice to others that find themselves wondering, could this be me? Could this be the reason that I'm this way? if you've got some issues with your body that are making you unhappy, then do what everyone else does: eat better, work out, and make the best of it. Take some martial arts classes. Even if you do have MAIS, you should be able to get into better-than-average shape and can defend yourself. You don't have to be posing on stage in BB competitions in order to feel OK about your body. If, like myself, you also have a scientific curiosity and want to know for sure, then get the test. Just don't expect the test to be easy to get, and expect to pay for it yourself (about $2,000 in the US).
And if you still feel bad about your body and choose to take steroids to compensate, you're certainly not alone; research shows that men who abuse steroids are more likely than controls to feel insecure about their bodies and to have eating disorders. (Check PubMed / Google Scholar if you want to see for yourself.)
