I last did an AMA on this condition three years ago and there have been a few other patients posting about the condition since.

https://www.reddit.com/r/IAmA/comments/1zj2mn/iama_40_year_old_plus_male_with_kallmann_syndrome/

I was diagnosed when I was around 24 / 25. Up to that point I had always been labelled as a later developer or late bloomer.

Kallmann syndrome is a rare genetic hormonal condition that affects puberty. Patients with Kallmann syndrome will not start or fully complete puberty. They will also have no sense of smell (anosmia). It affects both men and women but is more commonly diagnosed in men.

I have to be on some form of hormone replacement therapy all my life and would require specialist treatment if I wanted to become fertile. Testosterone therapy has enabled me to have some physical changes that are normally seen at puberty but still have under developed genitalia.

I am very keen to raise awareness of this condition. I talk to and meet fellow patients mainly from the UK and US. I am happy to answer any questions about my condition.

Edit The condition is rare with an estimated incidence of about 3.75 in 100,000 people which means there are probably about 13,000 people in the US and 2,500 in the UK. The condition can occur with no sense of smell, anosmia but can also occur with a normal sense of smell.

The condition is genetic but no one genetic cause has been identified with over 25 different genes already having been linked to causing the condition, with 50% of cases still having an unknown genetic origin.

Even with treatment I never went through normal puberty as I never had any testicular growth. I have been infertile most of my life apart from a couple of occasions when on fertility treatment through clinical trials where I achieved a minimal amount of sperm production.

Edit

I have been on various forms of testosterone replacement therapy over the years including Sustanon monthly injections, Nebido 12 weekly injections, 6 monthly pellet implants, daily Testogel / Androgel gel application. Currently I take hCG / Pregnyl injections for testosterone production.

My video on You Tube: https://youtu.be/K3hSC6t2T1U

http://delayed-puberty.com/delayed-puberty-kallmann-syndrome-news/2017/3/4/ask-me-anything-on-reddit

Comments: 200 • Responses: 85  • Date: 

CanHanger51 karma

Do this affect equally men and women? And their infertility issues as well?

ndsmith3849 karma

The condition is diagnosed 4 to 5 times more often in men than women. It is thought that this is not the true picture as this condition in females can often be misdiagnosed as other conditions that can cause infertility.

The true ratio is thought to be 1.5 : 1 men to women.

Both men and women are infertile with this condition and require treatment.

Normally female treatments work quicker than male treatments as women are born with all the required un-developed eggs within their ovaries.

Male treatments can take up to 2 years to work as the testes have to grow in size first in order to produce enough sperm for conception.

CowboyXuliver3 karma

Are you really infertile or just sub-fertile?

ndsmith3818 karma

Totally infertile.

I have been sub fertile only for two very brief periods in my life (a couple of months each time) when undergoing clinical trials for fertility injections.

MerlinEngine27 karma

what is best and worst thing having this condition?

how it affect your life?

ndsmith3873 karma

Not being able to smell certain bad smells can have its advantages.

The worst thing is probably not developing physically at the same time as my peer group. Not going through puberty meant I got left behind both physically and in terms of emotional relationships when I was a teenager.

Having this condition has made very shy and socially awkward. It has been very difficult for me to gain enough confidence to have physical relationships with other people.

MerlinEngine11 karma

how treatment change your life?

ndsmith3835 karma

Being on testosterone therapy helps. Initially when first diagnosed it meant I went through a partial puberty, stopped growing taller and began to look closer to my correct age. It meant I was able to shave for the first time and build up a little bit of muscle.

Testosterone therapy also increased energy levels and helped with sleeping and concentration at work.

Starting testosterone therapy in my 20's also gave me a sex drive for the first time in my life.

The downside is that I started to go a little bit bald once I started testosterone therapy but overall I felt a lot better. more energetic and alert and with the regular sex drive somebody should have at that age.

Being on testosterone therapy also helps in preventing me from getting weak bones or osteoporosis.

MerlinEngine9 karma

how it's feel to be different

ndsmith3819 karma

It is different now I have been diagnosed and on treatment.

Now I am used to having the condition I do not feel that different from everybody else. There are lots of people out there who have to cope with conditions a lot worse than Kallmann syndrome.

I still feel annoyed I did not go through puberty and have a lot of the experiences other people do have when younger but I am otherwise healthy and just get on with my life.

Before diagnosis it was a lot different however, it felt very strange to feel like you are the only person in the world not going through puberty. Doctors always dismissed me as being a "late bloomer" and told me to "wait and see".

I was very socially isolated and withdrawn, feeling left out of normal activities. I knew I was missing out on something but had no idea why I was not going through puberty at the time.

Undyingwang22 karma

This is a silly question, but have you always lacked a sense of smell as part of your condition? If not, is there a smell you miss?

ndsmith3847 karma

Certainly not a silly question.

I have never had a sense of smell. It is a congenital condition. The fact I never went through puberty and the fact I can not smell are directly linked.

There are no smells I miss but there are certainly smells that other people have described as being nice that I would like to have experienced. On the other hand I get to miss out on all the bad smells.

As far as I can see there is no way of fixing my anosmia.

prozacgod34 karma

My uncle has very poor or little sense of smell he ended up being a PR guy for a huge industrial hog farming company made like a shitload of money didn't have to put up with the horrible smell! Put your "super power" to work.

ndsmith3834 karma

That is a good point. It could be an interesting super power to have but probably not one that Marvel or DC will pick up on soon.

I do seem to be the person who gets "volunteered" to clean out the fridges and freezers at work.

--Squidoo--3 karma

Do you have a pretty good idea of what smelling is like? Could you describe in your own words what it's like to smell something nice?

ndsmith385 karma

I do not know what smelling is like.

I can only detect the very pungent or aromatic odours like bleach or vinegar as the stimulate a nervous response, not connected to smell at all.

I can walk into a room full of gas and not notice anything. There could be lots of rotting food in a fridge and I would not notice anything. I can not even tell when somebody has farted.

--Squidoo--2 karma

Interesting about the acrid smells.

How do you feel about food? Do you find some foods super amazing? I've read that smell contributes more to flavor than taste, since humans can only detect five tastes but millions of smells.

ndsmith382 karma

Smell contributes a lot to flavour I believe so I know I am missing out on the subtle flavours of certain foods.

A couple of my KS friends are professional chefs and they seem to cope ok without being able to smell their food.

I am a very fussy eater but do have favourite foods. I like mint a lot. I will drink tea but find coffee too strong and can not drink it. I am very sensitive to the texture of food.

xephyy20 karma

I'm a 21 year old with Kallman Syndrome but I still have a sense of smell and currently on treatment. What advice would you give young people with this condition?

ndsmith3818 karma

Hello,

I think the main advice would be is that you are not alone with this condition, there are other people out there who know what it is like to have the condition. There are Facebook groups where you can contact fellow patients and ask questions that you might not be able to ask other people.

Once you are on treatment you can have normal emotional and physical relationships and there are fertility treatments available with a very high success rate.

Compared to other rare conditions there is no reduction in life expectancy and people with Kallmann syndrome can lead perfectly normal, healthy lives.

I think having the knowledge of the condition and the knowledge you are not alone with the condition can help patients.

ndsmith385 karma

You do not have to be ashamed about your condition or hide it from everybody. It is not your fault you have this rare hormonal condition.

I do not tell everybody about the condition but if they ask I am happy to talk about. If you feel less ashamed about the condition it can hopefully be less of a burden to you.

Finding relationships can be tricky for some people with Kallmann syndrome but knowing that other patients have been successful in relationships and having children should help your confidence.

Whether you tell somebody about the condition before you get physical is always going to be a personal choice. To me it is something you can talk about afterwards. You do not want to put yourself under pressure by thinking you have to explain your condition first.

DeportTrimmigrants17 karma

Still a virgin? If so come to Nevada and I'll hook you up, legally.

ndsmith3846 karma

Thank you for the offer but I might have to politely decline.

I am inexperienced but not a virgin.

DeportTrimmigrants10 karma

Ah ok just saw it from your previous AMA.

ndsmith3894 karma

...I have been a bit little more active in the three years since my first AMA.

LaughingMonkey00163 karma

Woo! Get it brah!

salmix2111 karma

I should do an AMA

ndsmith383 karma

I find them very helpful.

It can be a good way of talking to new people with Kallmann syndrome. Sometimes I meet people I have already talked to on Skype or Facebook.

I just like the chance to talk about the condition and hopefully raise awareness. If it means just one more person gets the correct diagnosis and gets themselves onto the correct treatment it means it has been worthwhile.

Fastllama131 karma

Wanna bang?

cyfermax1 karma

/u/ndsmith38 don't miss this one ;)

ndsmith381 karma

I answered the two questions about showing a picture of my penis, I thought I would give this one a miss.

salmix210 karma

Not like this though

Edit: Guys I don't have the condition, I am sorry if it seemed like I did.

ndsmith381 karma

For personally I think while on treatment I would have the same sex drive as any other person of my age.

The issue of feeling comfortable in being able to open up and do it is a another matter. It has taken me a long time to gain the level of confidence I have now.

Asking_what_matters16 karma

Can you grow a beard?

ndsmith3820 karma

I can now but it still takes a good week for me to need a shave.

Beard growth is not directly linked to testosterone as it has more to do with genetics but I still needed the initial treatment in order for me to be able to start shaving. I did not start shaving until my late 20's.

Some of my fellow Kallmann syndrome friends can grow beards very quickly once on treatment but normally it takes a few days in order to develop enough to have to shave.

murmanizan6 karma

Still faster than me , i shave about once every 3 weeks and never have had more than some scrawny mustache hairs

ndsmith383 karma

Genetics plays a major part in facial hair, more than testosterone levels.

You have to have the testosterone initially in order to start shaving but how often you need to to shave is not really linked to how high or low your testosterone is.

samwise091212 karma

On a personal level, what are a few of your favorite films?

ndsmith3820 karma

Good question...

Pride Gravity Star Wars franchise Avengers franchise Interstellar To Kill a Mockingbird Twelve Angry Men Whiplash Imitation Game Airplane / Airplane II

ch00bacca1 karma

Pride? As in the one about the LGBT activists in Britain helping out the coal mine strikers?

ndsmith382 karma

Yes.

I was at school at the time the story was set but the story was new to me. It seemed a strange mixture of groups to get together. There was a good sound track to the movie as well.

hatsolotl1 karma

If I may ask, why'd you like Gravity so much? I know it's a good film but I feel like it's kind of overrated with how much critical praise it got. Each to their own though.

ndsmith3810 karma

It was mainly the visual effects. The film had no real plot or believable story line but the visual effects were stunning I thought, especially on a large IMAX screen.

BubblesAndGum10 karma

Do you have an adult sized penis?

ndsmith3815 karma

Just about I think.

It is certainly at the lower end of the normal range but it does its job just about.

I have very small testicles though, they have never grown since childhood, so that does get noticed some times.

oneirospawn9 karma

what do you look like?

sharoncousins9 karma

I think most people would have no idea there was something "different" about you unless you told them. Thank you for sharing your story.

ndsmith3814 karma

Thank you.

That is the issue that faces people with Kallmann syndrome, they can look totally normal on the outside and people do not realise why they can be so shy or have low self esteem when it comes to having physical relationships.

I_am_Orlando8 karma

What was the low point in your life?

ndsmith3816 karma

I think I must consider myself fortunate as I do not see myself having a low point.

I kept myself busy in my teenage years with studying, work and officiating sport so probably I did not have time to dwell on the social side I was missing.

I do sometimes feel annoyed that I did not develop normally physically but that is going to be with me all my life I think.

I do not see myself ever wanting to have children so being infertile has not bothered me either.

Adcro6 karma

Does being anosmic mean you also cannot taste?

ndsmith3811 karma

No, I can still taste but I probably can not experience the range of flavours that people who can smell do.

The taste sensation comes from a number of different factors and not just smell.

I love the taste of mint, or at least what I think of as mint. It is possibly not the same experience as people who can smell have.

I can detect very strong or aromatic compounds as in spices or vinegars as they stimulate a nervous response that is not connected to smell.

I am a very picky eater though and very sensitive to the texture of food.

Legilimensea4 karma

My boyfriend is anosmic and really hates spicy food. I've wondered if maybe it's because his lack of smell makes it so he only gets the pain part of spicy food and not the pleasant part? Texture and salt are also super important for him food-wise.

ndsmith383 karma

I am very sensitive to the texture of food and a few of my other anosmic friends say the same thing.

I am a very fussy eater.

CabbageMans6 karma

Have you ever thought about working as a voice actor?

ndsmith388 karma

My voice has broken now, but it is still a bit too high pitched for my liking.

I have had enough negative comments on my You Tube videos about my voice to know that I am better just communicating on line.

I have been on radio though. I had a few minutes talking about my condition on a talk show on BBC Radio 2 in the UK.

Glassblowinghandyman15 karma

Watching the video you posted, your voice sounds perfectly natural. You really should not be self-conscious about it. Anybody making fun of your voice is just a troll who already knows you have kallman's. It really is indistinguishable from any other normal man's voice.

ndsmith385 karma

Thank you. Apart from being overweight I do think myself as looking fairly normal.

It is in the more private areas that not many people see that some men with KS have the issues. People can see they look perfectly normal on the outside but have no idea why they are still shy and have low self esteem.

fille_du_nord9 karma

I wouldn't notice your voice as being unusual for a man- I do like your accent though :)

ndsmith3811 karma

I think a lot of people do not like hearing themselves played back.

I think my accent is neutral in the UK but when I go to the US people seem to like it for some reason.

JamesPlaysBasses1 karma

I really liked your voice, I couldn't have ever guessed you hadn't gone through puberty by hearing it. Im sure in the U.K. It's pretty normal but i really like that accent, it's like a interview with a 70s rock star!

ndsmith382 karma

Thank you.

That is part of the issue once diagnosed and on treatment. People with KS can look "normal" to others at first glance. People looking at us have no idea why we can be socially shy and have a poor self image at times. It is not the easiest topic to bring up in conversation, to say that you are not quite fully developed down there.

ezbangerz4 karma

Does everyone with Kallman syndrome have no sense of smell, or is it just a common symptom?

ndsmith384 karma

The main condition is called congenital hypogonadotropic hypogonadism or CHH.

About 50% of people with CHH have no sense of smell, these people have Kallmann syndrome.

Kallmann syndrome is CHH where people have no sense of smell as well as not going through puberty.

In terms of diagnosis or treatment there is no difference in having CHH or Kallmann syndrome.

Sometimes the fact you can not smell does help doctors diagnose Kallmann syndrome early.

drgradus3 karma

Another side effect for those of us with CHH or low T is the intramuscular testosterone injections also suppress the sensitivity of the sense of smell to some degree.

About a year or so ago the nurse practitioner I see informed me that, as I have been on the T for over a decade, the fertility options are likely never to take.

If you plan on having children of your own, get on that. I'm a little bitter that I have less choice in my life for having a family-it was always part of my life plan-but shooting blanks does have some benefits.

ndsmith383 karma

This is an important point.

In terms of having Kallmann syndrome or CHH being on testosterone therapy is thought not to decrease the chances of fertility treatment working in the future. This was always the line given by the KS experts I spoke to in the UK and US.

There was one medical paper that was published a couple of years ago that said the opposite, where being on therapy does decrease the chance of it working but the paper did say more research was needed in the area.

The success rate is still high for men with Kallmann syndrome but it does take a long time to work sometimes.

I know what you mean about shooting blanks. When I talk to teenage Kallmann syndrome patients they seem quite happy to be infertile; I do try to tell them that they might change their minds a bit later in life when they are in stable relationships.

ezbangerz2 karma

Oh ok, and when you say you didn't go through puberty, what exactly do you mean? Did you have body hair, facial hair, growth spurt etc.?

ndsmith383 karma

At the age of 21 I still looked like I was about 16. I had no facial hair and only sparse body hair. My voice had not broken. I had very little sex drive, especially compared to what a regular 21 year old would have.

I was at Tanner stage 2 for development which meant I had no penile or testicular growth at all.

I had my growth spurt at the age of 20 while at University as that is growth hormone dependant and not testosterone dependant. By the time I was diagnosed at the age of 25 I was still growing and only stopped because I started to take testosterone.

ezbangerz2 karma

That's really interesting, it's odd how a lack of one hormone can change things so drastically. Thanks and good luck.

ndsmith383 karma

Thank you.

Testosterone is such a potent hormone. I regret not being a normal teenager in a way. It was perhaps good to miss out on the hormonal swings but it was not good not being able to fit in.

I still notice the rush I get when I start the testosterone therapy if I have been off it for a while.

Blanche-4 karma

Why where you trying to kill Vera Farmiga's kids in that movie?

ndsmith384 karma

Did not get the reference at first, but a little bit of Wikipedia searching helped.

I did watch "Orphan" when it came out.

Until I started treatment I did look about 10 years younger than I was, now being on testosterone therapy I have lost hair on top and put on weight so do look near enough my correct age now. Being able to grow a beard helps as well.

Deadisred33 karma

Does it affect your ability to get a job?

ndsmith387 karma

No, it has never affected me in my work. My lack of sense of smell does get noticed from time to time but I can never remember it being an issue.

I do have hearing difficulties, which are also linked to having Kallmann syndrome which cause a few problems at times but nothing too serious.

Having no sense of smell means I have to be careful with cooking and personal hygiene but I have always lived on my own and got quite used to it.

Deadisred31 karma

Thank you I didn't know about this disease and will start researching it more. Where do you work?

ndsmith384 karma

I work in the UK. I am a biomedical scientist working in blood transfusion labs. I studied a bit of endocrinology when I was at Uni so only know the basics.

I try to keep up to date with information on Kallmann syndrome / CHH and I regularly meet with KS specialists in the US and UK. I try to pass on any relevant information to fellow patients,

frapican3 karma

You mentioned that puberty didn't start until you started taking hormones. How has your emotional flow gone?

Everyone knows the moody teenager phase as puberty can come with mood swings. Did you already have some of that as a teenager? Did you start getting mood swings at the start of your injections.

Either way, good on you for being brave, standing up to the world and being there for others to help them know they're not alone.

ndsmith383 karma

I missed out on the entire moody phase. I see it as I missed out on both adolescence and puberty.

I kept myself busy as a teenager and in my 20's with my studies, work and sport officiating. I knew I was missing out on something but in keeping busy tried not to let it bother me too much.

Once I started treatment it changed a bit. I got the increased sex drive which was a bit strange to start with. I was quite lucky with my treatment so I never go the big mood swings I have seen in some of my KS friends.

I do have bad days but I tend to go quiet and only occasionally have temper outbursts. Normally these are only short lived and I return to normal quickly.

Mursch3 karma

Hello fellow Kallmann patient! I hope I am not too late for this. How do you cope with Kallmann? Did you get help from a therapist? I feel like Kallmann destroyed my life, I am demotivated, cant get myself to keep up the treatment (Pregnyl and Menopur) and I just feel hopeless since nobody in my region seems to have this condition.

ndsmith384 karma

Pregnyl and Menopur is good treatment to be on. I know a few people here in the UK who would like to be on that treatment. I am on just Pregnyl myself at the moment.

I do understand what you mean, having Kallmann syndrome can have a huge impact on your life, especially if you are feeling alone and the only person with the condition. If you can talk to other patients it can become easier.

Where do you live ? I might know other patients in your country.

Speaking to a therapist might help, they will probably now know much about Kallmann syndrome but they can help you express your feelings.

Mursch2 karma

I live in Austria so there should be around 400 people with Kallmann Syndrome in the country but I havent found any groups or stuff like that online, yet.

And yes, I should really get to see a therapist before it´s too late. About the facebook thing from the other comment, I might give it a try, thanks!

ndsmith383 karma

I do not know anybody from Austria I am afraid. I know a few in Germany though.

If you join our groups you will find people to talk to. It might help.

You can ask about information about different forms of testosterone therapy and fertility treatments if you are interested in that as well.

Mursch2 karma

Well I guess you know one now (kinda). ;D I will think about joining the Facebook group(s) but my old facebook account is kinda weird since I barley ever postet anything and never used a profil pic (I think you can guess why). The treatment itself is fine, its just that it can be so exhausting to get myself to do it. There is simply no motivation in me for anything and having to prepare might not take a long time but it feels like it takes forever. Do you use regular syringes or something like people with diabetes do?

ndsmith383 karma

I found I did have the motivation for injections, especially the Menopur as you can get the testicular enlargement with that if you use it long enough.

I do not like not being on treatment and the feeling you get with the natural testosterone delivery you get with Pregnyl is better than injecting testosterone directly I think,

We have people in our groups who create a profile just for the Kallmann syndrome groups and keep it totally separate from their regular Facebook. You do not need to post anything but perhaps reading stories and comments from people in different parts of the world might help.

ndsmith383 karma

I use green (21G) needles which are normally used for intramuscular injections to prepare the injections and the 25G (orange) needles for the sub cutaneous injection in my waist.

http://www.imap24.com/aukcje/drafts/medical/all_together_igly_mini.png

I buy the needles and syringes from a medical supply company.

I am only injecting Pregnyl at the moment. I want to use Menopur again but it is difficult for me to get hold of.

ndsmith384 karma

Hello,

I never saw a therapist directly but my main coping technique has been keeping in touch with as many fellow patients as I can. I enjoy talking to and meeting fellow patients from around the world.

I am based in the UK but have met patients from a number of countries now. It is useful to see how our experiences with the condition are similar in some ways even when we come from completely different backgrounds.

We have four groups on Facebook where you can talk to fellow patients and ask questions. The groups have different privacy settings depending on how much information you are happy to share on Facebook.

ndsmith382 karma

Hearing stories from other patients who are in relationships, getting married and having children can help to motivate sometimes.

Other times just knowing that there are other patients out there with the same condition who know exactly what you are going through can help. It can be a very isolating condition if you have no fellow patients to be able to talk to if you needed to.

I have found my communications with fellow patients to be very helpful to me.

https://www.facebook.com/KallmannSyndrome/

This is my information page on Facebook, if you want to leave a message there I can send you the links to the patient groups on Facebook.

Tulsmi3 karma

Are you afraid of sharing it with friends or family? If not, how did/do people around you react to kallmann? I also have kallmann syndrom, found out a year ago (myself) at 16, but i do not like sharing it with other people since i am afraid of it affecting my relationship with them.

ndsmith386 karma

I can understand your hesitation in talking about it but I have found it has been easier to be completely open about it than try to hide it.

While your friends and family might not be able to understand what it is like to have the condition they will hopefully want to be supportive and understand why you might have the occasional off day.

I am 46 now and since being diagnosed at 25 I can honestly say there has only been one time I regretted telling somebody about the condition and even then that did not cause any lasting problems.

Your friends like you for the person you are. If they are truly your friends they will want to help you and try to understand about the condition.

You can be careful in who you tell but I would never be afraid in telling somebody, especially if you want an emotional or physical relationship with that person.

Tulsmi1 karma

Thanks for your reply! I will certainly keep that in mind for the rest of my life

ndsmith382 karma

Sometimes I have found it easier to ask friends to look up information for themselves and then ask any questions they may have.

You can tell them the basics and ask if they want to find out more they can look it up on the internet. They then can come back and ask any questions. It might be a way of starting the conversation going and letting them find out more only if they wanted to.

jizzinggazelle3 karma

If you don't mind me asking, what testosterone replacement medication are you on and what is your dosage and method for taking it? Thank You.

ndsmith385 karma

I am at present on Pregnyl (human chorionic gonadotropin - hCG). I take 3,000 IU twice a week and this stimulates my testes into testosterone production. I can get quite normal testosterone levels this way.

In the past I have used the Nebido injection (testosterone undecanoate) every 10 weeks which also works well for me.

I have also used daily Testogel application in the past, but this would not be my favourite method to choose.

drgradus2 karma

Not OP, but have CHH. 0.5 ml of 2kmg/mL intramuscular testosterone per week plus vitamin d supplements to deal with that particular side effect of T injections.

ndsmith384 karma

Good point. I forgot about the Vitamin D supplements that I am supposed to take but not very good at remembering to do so.

drgradus2 karma

Same. Every time I get my blood work I get the "take your D" lecture. It's the low T equivalent of flossing.

ndsmith383 karma

Normally with me it is take your Vitamin D and loose weight or else you will get Type II diabetes.

I have been on the borderline for diabetes for a while now. I will have to do something about it soon.

drgradus2 karma

Shit, we're at risk for diabetes? I'm too scrawny (5'11" and 10-11 stone) for diabetes!

ndsmith384 karma

Low testosterone can put you at increased risk but if you are the correct weight and on treatment you should be fine.

It is just that I like my full sugar Coke and chocolate too much as a comfort food which puts me at a higher risk.

drgradus2 karma

Ah, right. We have different comfort foods. Mine are beer, Bourbon, and forgetting to eat, which bring about an entirely different set of healthcare concerns.

EDIT: It's nice to talk to someone going through same thing but different.

ndsmith382 karma

I enjoy talking to fellow KS friends from all over the world through the internet. We have groups on Facebook as you might already know.

I have met quite a few fellow KS friends in person which I always enjoy. There is something about the shared experience that helps brings us together I think.

However it is also useful to hear about the differences in our experiences, both the positive and negative.

ndsmith382 karma

I never developed a taste for alcohol.

I had trouble wetting the bed when I was a teenager which I put down to not developing "down there" which was made worse if I drank. So I never started and can not seem to start now for some reason.

This is certainly not a Kallmann syndrome thing, most of my KS friends seem to be drinkers, it is just me.

ndsmith381 karma

I am at present on Pregnyl (human chorionic gonadotropin - hCG). I take 3,000 IU twice a week and this stimulates my testes into testosterone production. I can get quite normal testosterone levels this way. I seem to prefer the natural testosterone you get with hCG as opposed to the injected or gel form.

In the past I have used the Nebido (Reandron) injection (testosterone undecanoate) every 10 weeks which also works well for me.

I have used Testogel or Androgel in the past with daily application. It can work well but I am not a big fan of this method.

I have used gum patches in the past as part of a clinical trial but did not like using them at all.

MadscientistC143 karma

Hi. I think my brother has this. We never knew the name of it. Does it also affect sweating? He can't sweat, so hot weather is excruciating to him if there is no air conditioning.

ndsmith383 karma

I have not heard of Kallmann syndrome being connected with not being able to sweat. Does he have a normal sense of smell ?

MadscientistC144 karma

Never could smell. He's 50. He looks like he's 20. All we knew was the pituitary didn't work right.

ndsmith388 karma

That could be Kallmann syndrome. The lack of sweating could be another un-related condition.

It is not unheard of for Kallmann syndrome men to go their whole lives undiagnosed. Testosterone is not a vital hormone for life but it does affect quality of life.

The biggest problem perhaps with having no testosterone, apart from the fertility side, is the danger of having weak bones or osteoporosis.

Igmanige2 karma

It's interesting because it seems you have a beard, your voice doesn't sound abnormally high, it actually sounds like most other men's voices and your body looks like any other man's. I don't notice anything different at all. I was just wondering, don't you need to go through puberty to have a voice developed and to be able to grow a beard?

ndsmith381 karma

That is because I am now on testosterone therapy. I started taking testosterone when I was 26 which caused my voice to break, gain some muscle mass and look closer to my correct age. I still only have to shave once a week.

Without treatment my testosterone level is practically zero.

I have had no testicular growth at all. They are still the 2ml size they have been ever since childhood which means I do not produce my own testosterone or sperm.

So outwardly a person with Kallmann syndrome / CHH will look normal on treatment but they are still infertile without specialised treatment and have underdeveloped genitalia.

Igmanige0 karma

That makes sense. I've heard a story of a man who was short when he was a kid and he got some injection when he was a teen, some sort of growth hormone and now he's over 2 meters tall. But yeah, just be careful with hormone and steroid injections. Make sure to read up about long term effects and try stick to the healthy road. Steroids and hormones over the long run can be bad if you're not careful.

ndsmith381 karma

Thank you,

I do not take steroids. The testosterone I take is made specifically for hormone replacement therapy and I make sure my testosterone level is the same as it should be for a guy of my age.

You are quite right, taking too much of the wrong type of injection can be very harmful.

At the moment I take hCG so I making my own natural testosterone which I find better than taking the injections or gel.

AronMay2 karma

Can we see a photo of you?

ndsmith382 karma

There are a few videos on me on You Tube. This is the one that was professionally done.

https://youtu.be/K3hSC6t2T1U

AronMay3 karma

Thank you! I googled Kallmann Syndrome and all I got was penises.

ndsmith385 karma

None of them are mine, as far as I know....

It is not the easiest topic to search for in safe mode but there are some good information websites out there. I have a page on Facebook where I have posted more information on Kallmann syndrome if you wish to learn more.

Notapseudoliberal2 karma

Does that affect your personality and sexuality?

ndsmith3810 karma

I am very socially shy and awkward and do like to be in my own company. I have a few very close friends but do not like being in social groups much unless I am in a group of fellow Kallmann syndrome patients.

I am not sure if it did affect my sexuality. I see myself as bisexual if I had to label myself but my drive has varied so much over years depending on the sort of treatment I have been on. I had no drive at all until my late 20's and did not become active until my late 30's, so having the condition certainly has affected me in that way.

This is just my own experience of having Kallmann syndrome, it affects different people in different ways, a lot depends on age of diagnosis and treatment I think.

MagicDragonRider3 karma

Have you ever wondered if your shy personality is psychosymatic and comes from the knowledge of your disease?

ndsmith382 karma

Yes, I do think my shyness is a direct result of my disorder. I find it very difficult to relax in social situations and only really feel comfortable with certain close friends or fellow KS friends.

This is just me though. I do know some KS friends who are very outgoing but it is not unusual for a person with KS to be shy, especially if they were diagnosed late.

ndsmith381 karma

For me especially I think I will always have low self esteem or body image. I might look fairly normal and with the beard I do almost look my own age.

However it is very difficult to shake off the knowledge that I am not fully developed down there. Even though I have had the occasional physical encounter I am always going to be aware that it does not look quite right.

Even though nobody can see that I think it results in me being shy and wishing to avoid social situations. I also think since I missed out on adolescence I did not go through the usual learning process of social interaction and this has carried on into adult life.

hottestlabbieatshsu1 karma

Can you hit the Castrato note??

ndsmith382 karma

I certainly can not. My voice has broken now and I could not sing even before treatment.

A couple of my KS friends are very good singers but given the choice of keeping their voice or starting treatment they had to choose going on treatment.

The jazz singer Jimmy Scott had Kallmann syndrome and refused to go on treatment in order to keep his distinctive voice.

Deadisred31 karma

Do you have a gf? If so how does she react to you having it?

ndsmith382 karma

No girl friend at the moment. I am not in a relationship at the moment.

I am not that experienced but have had male and female partners and it has not been a major issue, though it did take me a long while to gain enough self confidence to start.

Throwaway546291 karma

I fear I may have something similar to this. I'm 22 and don't think I've started or finished puberty. What would be the first step in getting this diagnosed? A blood test?

ndsmith381 karma

If you have anosmia they might order a MRI to check the pituitary gland within the brain.

A full hormone profile could be run to see if any other pituitary hormones have been affected. Normally Kallmann syndrome just affects LH / FSH and testosterone levels.

ndsmith381 karma

Hello,

A blood test would be the place to start. You can ask your doctor to check your testosterone levels as well as the levels for the hormones FSH, LH and prolactin

If you can not smell or have problems with your hearing or teeth make sure you mention these as well.

22 is well beyond being a late starter or late bloomer so if your testicles have not grown at all or very much since childhood it is certainly worth getting checked out.

The best type of doctor to see would be a reproductive endocrinologist if you can.

If you had un-descended testicles when born make sure you mention this to the doctor as well.

If you have low testosterone they might be able to start you on testosterone therapy quite quickly.

Throwaway546291 karma

Yea I went for a checkup when I was 20 and told the doctor my concern and he said I was fine just because I had pubic hair. Thank you for the advice. I'm going to try and get in touch with an endocrinologist. Just one more question, is this process expensive without insurance? In your experience, did your insurance cover things like this or did you have to pay out of pocket? That's my biggest concern

ndsmith381 karma

I do not like the sound of that doctor. Men with Kallmann syndrome will reach Tanner stage 2, so we will have a small amount of pubic and under arm hair.

If there has been no testicular growth it is a sign puberty has not started correctly and a full hormone profile would be required.

You are not a late starter at 22.

Let me know how you get on and I will try to help with any questions you may have.

Best wishes.

I_AM_THE_REAL_GOD1 karma

Would you rather be bald or not have taken the testosterone?

ndsmith381 karma

Unfortunately I need the testosterone too much. It is a price you have to pay I am afraid.

While testosterone is not vital for life it does improve the quality of life being on it. I have stopped treatment in the past to go onto clinical trials and it is not a nice feeling. I much prefer being on treatment.

antigravitytapes1 karma

can you hit high notes like a castrati?

ndsmith382 karma

I certainly can not. My voice has broken now and I could not sing even before treatment.

A couple of my KS friends are very good singers but given the choice of keeping their voice or starting treatment they had to choose going on treatment.

The jazz singer Jimmy Scott had Kallmann syndrome and refused to go on treatment in order to keep his distinctive voice.

antigravitytapes1 karma

thanks for the reply! i didnt expect an answer and was hesitant to ask, but ive always been fascinated by the castrati. its just amazing to me that there are pieces of music out there that modernity cannot experience simply because there arent castrati anymore.

I can see why one would continue treatment, but there is part of me that wishes i could hear such a voice in my life.

https://www.youtube.com/watch?v=KLjvfqnD0ws

ndsmith382 karma

There are You Tube clips of Jimmy Scott singing. He had a very distinctive voice as well. He was well known in the 1950's but then faded away.

He returned in the 1980's when he sang on the TV show "Twin Peaks". He died a couple of years ago I think. His Kallmann syndrome was mentioned in most articles about him. He could be termed a natural castrati.

antigravitytapes1 karma

In a BBC documentary i remember how the castrati have larynxes of a boy and yet vocal tracts and lung capacity of a man, allowing them to do physically impossible feats only accomplished today with falsettos.

https://youtu.be/S8ZAraf5wMc?t=9m6s

Does someone like Jimmy Scott have the same situation anatomy-wise? Because if one's voice "breaks" then you arent really castrati, correct?

ndsmith382 karma

It was reported that Jimmy Scott refused testosterone treatment in order to keep his voice from breaking, maintaining his distinctive voice.

Having no testosterone meant he developed severe osteoporosis which can be very painful but he carried on with his singing career.

FunGoodHappyJoy1 karma

What made you go to the doctor in the first place? Did you go to get tested for this specifically?

ndsmith381 karma

I had not started puberty by the age of 24. There was obviously something wrong but none of the doctors I saw took me seriously.

They just said I was a "late starter" or "late bloomer" which at 23 was a bit hard to take. I was told it would all start sometime even though I had the development stage of a pre-pubertal child. I had a little bit of hair growth but no penile or testicular growth at all.

I worked in a hospital in London. In the end I went and found one of the endocrinologists who worked there and he diagnosed me. He was the first ever doctor to ask if I could smell. Up to that point I had thought nothing of it.

FunGoodHappyJoy1 karma

So did you have no pubic hair? Was your penis still very small? Was your voice still very high?

So none of the doctors ran any tests on you prior to the one who diagnosed you? Because I find it extremely concerning that all of the doctors you saw, except for one, believed that nothing was wrong. I'm no doctor, but surely it can't be very normal that a "late bloomer" is in their mid 20s.

ndsmith381 karma

Partial pubic and under arm hair. Tanner stage 2 I would have said.

I went to the doctor perhaps every six months from the age of 16 to 19 and was dismissed each time as a "late starter". I was sent to a general medicine consultant and urologist in Plymouth, UK who both also dismissed me. At no stage was I sent to an endocrinologist.

One suggested taking a low dose of testosterone, which was so low it made no impact on me at all.

By that stage I had given up on the doctors. Nobody was taking me seriously. This was just before the internet age so it was not that easy to pick up information.

I studied a little bit of endocrinology when I was at University so knew the basics of what should have been happening. I still thought it would happen one day. Back in those days you almost had to assume the doctor knew best.

Looking back I knew what I should have done but it did not occur to me at the time. I had to send myself to see an endocrinologist because none of the GP's I saw would do it for me.

Now I am very keen in making sure people are diagnosed early and not just told to wait and see.

Penguin__Assault1 karma

Do people go through this without experiencing puberty at all or do they have it at an old age like 30?

ndsmith381 karma

People can go their whole lives not being diagnosed.

Testosterone is not a vital hormone for life so you can live your whole life not having gone through puberty and having symptoms of low / zero testosterone. It will not be a high quality of life and having low testosterone (hypogonadism) can cause other health issues.

My specialist told me the oldest patient he had diagnosed was 65 and he had diagnosed a few patients in their 40's.

Some people with this condition might go through a very late puberty but normally if left undiagnosed they will never go through puberty.

admiralpoo1 karma

Without me going through google I've seen an indivuidual with a potential medical condition alike yours who hasn't even had the basic stages of puberty such as hair growth and the like.

Do you differ from the fact you've had the replacment therapy, or can it effect an indivual in different ways? Thanks!

ndsmith381 karma

I know Brandon, the guy in the video, we talk on line a lot but we have never met in person.

We have the same condition and he has done a number of these AMA's himself and is very good at talking about our condition with other people.

ndsmith381 karma

It certainly can affect different people in different ways. You can have very severe forms of the condition where you have uncorrected micro penis and very small testicles.

Micropenis is not a common symptom in Kallmann syndrome only occurring in about 10% of cases. Often if treatment is given as an infant, and testosterone therapy given as a teenager then normal penile growth can be obtained.

In milder form of the condition you can have a normal sized penile growth with a small amount of testicular growth. Normal testicles are about 20 to 25ml in size. A person with a mild form of the condition could have testicles about 10 ml in size.

In severe cases the testicles can be only 1 or 2ml in size, which do not grow at all, even with testosterone therapy.

CitricAcidFree1 karma

What's your stance on when Canada lost its semi-final game at the 1998 Winter Olympics in Nagano in a shootout to the Czech Republic?

ndsmith382 karma

.....if only I had a pound for every time I had been asked that question. I would be a rich person.

CitricAcidFree1 karma

Soooo....

ndsmith381 karma

The Canadians have won it 13 times already so they can not be too disappointed about the result, at least the Russians did not win. About time a European team won the gold.

Tossing_Machine1 karma

I hope you are still answering questions, and I hope you don't take offense to this.

Many people think of going through puberty having ties to maturing mentally, as that is when your brain goes through changes and starts to grow in certain areas, allowing more rational ideas and foresight, with that said, for someone with this condition, does it affect that person mentally?

From what I can tell, from your video where you talk about this, and your comments you seem to be completely fine, I would have never guessed you had this condition.

ndsmith382 karma

I am always happy to answer questions on any aspect of Kallmann syndrome.

When this condition was first written about in medical papers between the 1940' and 1960's it was linked to mental retardation, low intelligence and low life expectancy; all of which are totally untrue.

People with Kallmann syndrome mature mentally and academically the same way any other group of people would. My friends with Kallmann syndrome cover all levels of academic ability.

People with Kallmann syndrome when treated do look totally normal on the outside, they look near enough the right age, they shave, they have body hair and there is nothing that outwardly show that they have the condition. The main symptoms of Kallmann syndrome are not visible to others at first glance but are only too apparent to the people with the condition.

I did not go through adolescence so I missed out on my emotional development and social interaction that you normally get at that age. However I was still fine academically and I was a mature person who acted my age, I just looked a lot younger than I was.

People looking at me will just see a regular person. They will have no idea that I have this condition and it is only in certain intimate situations where my condition would become apparent.

I sometimes think that having Kallmann syndrome is even worse for the very good looking guys with the condition. People would expect them to be socially and sexually confident and have no idea why they are shy and not always keen to engage sexually even when the drive is there when on treatment.

For both the male and female patients I think Kallmann syndrome affects us far more mentally than physically. We can have hormone treatment to treat the physical symptoms but it is far more difficult sometimes to escape the psychological effects of not developing the same time as everybody else, not having a normal puberty (even with treatment men with Kallmann syndrome normally have smaller penile lengths and very small testicles) and being infertile.

daddyyboyy-2 karma

Can I see a picture of your dick?

For science, of course

ndsmith384 karma

I think there are enough pictures of other dicks out there already.

Mine is nothing special.

vicious_armbar-6 karma

Since you never went through puberty does that mean that you still have a baby dick?

ndsmith381 karma

It is not a baby dick. It might not have grown as much as I would have liked but it did grow a little bit once I started the testosterone therapy.

pianoboy8-9 karma

/u/Dedicatedgamer/ how was the hospital visit?

ndsmith386 karma

I work in a hospital for my regular job.

I was first diagnosed when I went to find an endocrinologist who worked in the hospital I was at. By some strange coincidence or fate he happened to a be a specialist in Kallmann syndrome. He was the first ever doctor who asked me if I could smell.

I have been fortunate to be seen by Kallmann syndrome specialists ever since so the hospital appointments have been fairly good. I do not even mind the personal examinations now.

I had to have an MRI when first tested and I have DEXA bone density scans every 3 years. These are very easy and quick. You do not even have to get undressed for the DEXA scan.

When I was a teenager, before diagnosis I do remember a couple of very bad appointments where the doctor either just dismissed me as wasting his time or asked me some very personal sexual questions while doing the examination, which being 19 and sexually unaware I did not really know how to answer.