My Son Has Congenital Anorchia

When my Son was born he had to stay in the Hospital for 5 days because there was still amniotic fluid in his lungs (common). On day 3 they Dr sat us down to discuss the issue with his genitals. We were shocked, this was our first boy and we hadn't noticed anything wrong with his genitals. We were told that his penis was too small and his scrotum was empty and they couldn't feel any testis in his abdomen, so they were going to run some tests to make sure he was in fact a male. A day in a half later we were relieved to find out we was in fact XY, a male.
Then began our journey which ends as of now in the diagnosis of "Vanishing Testis Syndrome" or as I found on the web also called Congenital Anorchia. Our journey started in the local hospital where he was born, where he had blood drawn for a number of tests an ultrasound to look for his testis. One of his hormone test reveled that his testosterone was high, higher than usual for a boy his age. So they ran the test a second time and the next test revealed his testosterone was low. "Odd" they said. The ultrasound revealed they had found his testis but they were extremely small and possibly calcified. "Odd" they said. From that point we were sent to Seattle Children's Hospital. First to Endocrinology, and when no answers, just more questions came from that department, we were sent to the DSD clinic ( Disorders of Sexual Development) and ordered another ultra sound.
Next Ultrasound revealed they his testis had calcification (damage) and may be getting smaller. DSD said they found no genetic abnormalities. They believed that somehow blood supply got interrupted during pregnancy and testis stopped developing. They also could be shrinking and going further up the inguinal canal. Testis were declared nonfunctional, would not make ***** or testosterone. He would start a short 3 month testosterone treatment to get his penis larger and closer to a normal size. Testosterone would not be necessary again until puberty, because with out hormone replacement puberty would not start on its own. But in the mean time, they said, lets do a laproscopic surgery to take a look at those testis and try to see what happened to them, take some tissue samples, we may just remove whatever is left of them.
My son ended up responding very well to the testosterone treatment, with very significant growth. We just finished having the surgery where they discovered that his body had absorbed whatever was left of his testis, his inguinal canal empty. And that's were we are today. And I'm so glad I found this community, its makes me feel stronger and more hopeful about my son's future.
MrsLifeG33k MrsLifeG33k
26-30, F
6 Responses Jan 5, 2013

I'm new to this site, so I'm not sure if I am replying in the right spot but THANK YOU for your reply. When I checked my email and saw I had a reply I burst into tears... I am so thankful to hear from someone else going through the same thing and for all the wonderful advice you gave about when to tell/how to tell. I am finding it so hard to stay in the moment with this condition. My thoughts are always about the future and its a real struggle to stay in the moment and just enjoy my beautiful son. That information is so helpful. I often wonder and worry how to go about telling him down the track :(

Can I ask... Is your son your first child? Do you have other children? And are you thinking about having more children down the track? My son is my second child. I also have a daughter who is almost 3. Have you been given any advice on future children (sons in particular) and whether they may have the same condition? We actually saw our specialists yesterday and they have offered my husband and I genetic testing... so basically we would be genetically mapped to see if there is a high chance of this happening again. I asked our surgeon if he has seen any brothers both experience this and he said undescended testes can run in families but he has never seen vanishing testes, especially bilateral vanishing testes in brothers although he has read about it occuring.

My son has only had 1 injection of testosterone so far (2 weeks ago), but already I can see a change in his penis size. Our endo explained that having more testosterone around age 4-5 would be for further penile growth but explained it would only be small amounts as they have to tread carefully as it can impact the bone density. So they will evaluate things when hes around that age to see if they think he needs a little more.

As I mentioned in my previous reply... They did remove something that they believed was dead testicular matter from my son during his operation. Only one was found, the other side had nothing. We got the results from that yesterday and it was testicular tissue but completely non-functional and very abnormal and would have posed a cancer risk if it had been left inside his body. We also got back blood results from just before my son had his first round of testosterone. His testosterone levels was 0.0001% and his LH and FSH were astronomically high. The reason being that the pitutiary gland was trying to send messages to the testes (that aren't there) to start producing testosterone and are working over time to do this. I didn't think to ask at the time but I wonder if those levels will come down now that he has some testosterone in his system? My son has had bloods taken after his first round of testosterone was given, but we havent got those results back yet.

I just re-read your original post and our stories are so similar. We also had to stay in the hospital for longer when he was born because he also had respitory issues with fluid on his lungs. Was your pregnancy and birth fairly 'normal'? Nothing was mentioned to us about his genitals after birth, only that his testes weren't down but over and over again they would say "they will come down in their own time so don't worry". Nothing was mentioned about his penis size at that point. I only have a daughter and only have sisters and so I really had no idea how big/small a baby's penis should be. Around 4 months, once we saw the paediatrician about the testes STILL not being down, he did say he penis was on the "smaller side of average for a baby his age" but that is all. He also said "I think we better do some tests to confirm your son is infact male". I almost died. I actually thought he was joking??! My son definitely looks like a boy and has a penis???! How could they question it? But my son came back as all male XY also.

Have you thought about your son getting prosthesis? Our surgeon seems to think it's better to wait until he is older, around age 15-17 to have these fitted as then they won't need to be upgraded to a bigger size as they would if he has them fitted at an earlier age. I'm just not sure when the right time will be but possibly when my son is old enough to understand more.

Thank you again for sharing your story. You have no idea what it means to realise we aren't the only people going through this. I would love to stay in contact with you as our sons are only a few months apart (mine is 8 months old) and our stories are so similiar. My email is polkadotmummy@gmail.com if you ever want to chat. Although I will continue to check this page often. Thanks again :)

PS-Where abouts are you located? I am in Australia.

I am in the U.S., near Seattle WA, dont know if you know where that is. I will email you too.

Hello - I am so glad that I found this post! My son has 'vanishing teste syndrome'. When he was born his testes were not present but the doctors were not worried. They told me "nevermind they will come down when they are ready". At his 6 week check up my GP told me the same thing. At my sons 4 month check my community health nurse told me that they really should be down by now and referred us to the paediatrician. The paediatrician referred us to a paediatric urologist and from there exploratory surgery was booked for when my son was 7 months old. My son is now 8 months old and had this surgery a month ago. We were given the devastating news that he infact did not have any functional testes. On one side he had nothing at all and on the other he had a very small, shrivelled up, dead testicle. The surgeon said it looked very abnormal and he believed had it stayed within my son it would have caused issues later down the track and possibly cancer. I am very relieved that this is no longer a risk for him as it has been removed. My son started testosterone therapy last week to help with penile growth. He has 2 more rounds over the next 2 months. The endocrinologist said he will also have another lot around age 4-5 years and then not again til around puberty. I have felt so alone, like we are the only people going through this. We have not told anyone about our son as we almost feel guilty talking about it as it is his private business and we feel we need to protect and respect his privacy and that it is up to him to tell people when he is older. So I am very happy to find you all and to be able to talk about it all with people who are going through the same thing. It breaks my heart that he will not be able to have his own children but I try to remind myself that his condition is life changing but not life threatening... and for that I should be so grateful. It is very overwhelming and I worry about his future. For example - will he ever feel like a 'man', will he ever feel complete not being able to father his own children, will he ever find someone who loves and accepts him the way he is? It breaks my heart thinking of the challenges he will face as he gets older. I would love to speak with you all more and to stay in touch with you if you are willing? thanks in advance x

Im so glad that you were able to switch pediatricians and get answers. I was told before my son's surgery that if they found any testicular tissue they would be removing it because it would be damaged and had the risk of turning into cancer later in life. But like I said in my son's case his body absorbed his testes and his canals were empty. Interesting that they are going to do another round of testosterone at age 5, did they explain the reasoning for that? In my case he had one round as a baby, because baby boys do have a spike in testosterone before age one, and also to help with his smaller genitalia, which now is average size, yay. But I was told he would not need any more testosterone until he reaches puberty age.

I also was able to talk to a psychiatrist that specializes in abnormal sexual development of all kinds, and has had male patients with the same condition. She told me that while to have this condition is a burden for the patient, that she has seen many boys grow up to be happy, healthy, functioning adults, and have girlfriends. One of the things she does is counsel them on how and when it is appropriate to share with your significant other that you cant have children.

The reason I visited her was because i wanted advice on how and when it is best to tell my son about his condition, because I know from the stories in this communities from the men who have this, their are alot of ways for parents to do it wrong, and not just do it wrong but cause emotional damage. This is the jist of the advice she gave, I wish I could give you word for word, but I dont have that good of memory so here it is in my own words:

You need to let him know in small, bite size, developmentally appropriate chunks through out his childhood before he reaches puberty and need to start his hormone treatments. (My son is 1year right now) Step one is talk about all the different kinds of families there are. Get books about different kinds of families. Make adoption, stepchildren, etc. seem normal and common, no big deal. Step two when he gets old enough to start talking about body parts(preschool age), Talk about how everyone looks different. Some people are bigger, smaller, some are circumcised some are not, (as well as the obvious boys are different than girls) and when you get to the part that you share that some people have testes and you don't, she (the psychiatrist) said make it real nonchalant, no big deal. "You don't have them but its no big deal, other people dont have them either". Don't mention testosterone treatment yet. Keep the conversation very brief. Reassure him that he is still completely healthy. Step three, when he is older and the whole sex ed, and where do babies come from come up (and your going to want to have this happen BEFORE he learns this is school- I myself had my first formal sex ed in the 5th grade) Your going to CAUSALLY mention: "because your testicles didn't develop fully you may need to have babies in other ways". She said never say never. Dont say you will never have babies, you cant have babies, say "people who don't have testes have to think about other ways to have babies"
And this is where all your prep in step one, making other kind of families seem normal comes into play. Also at this age its okay to mention testosterone treatment, when that comes up.
In conclusion she said: your going to have momentary conversations that accumulate. Always keep it casual and always keep it brief. Its best to come up wit "lines" before hand so you dont get caught up in the moment and say the wrong thing. Dont make them these huge sit down, serious "we need to talk" kind of conversations. Try to let them happen naturally, when he brings them up. Remind him that this (his condition) is not who he is, just one tiny feature. And finally, make sure your okay with it BEFORE you try to make him okay with it. Because you cant tell him " but that's okay" when you don't believe it yourself. He will see right through you.

Hope all this was helpful even though I know it was alot to read. I am going to repost the stuff I learned from the psychiatrist in the main forum so other moms can see. Even though I dont know you, sending love you way,

A fellow mother

I feel a little disgruntled that a word that has to do with his fertility has been censored from my story. When the proper names for his genitalia have not. What the heck, that makes no sense. Also especially in a group like this proper names and terminology should be normal and not considered "bad words", that is just childish :/

I am so sorry to hear about your son's diagnosis. We learned my son had anorchia when he was about 4 months old. He is 2 1/2 now and such an awesome kid - doing everything that two year olds should be doing. Keeping me on my toes!! I'm so happy every day that he is mine. It does break my heart when I think about how we are in that "sweet spot" right now where he doesn't know he's different. I'm hopeful that their will be much progress made by the time he reaches puberty or when he wants to start a family.

I don't post much, but it means so much to have an online community that can understand what we are going through. Our endocronologist said her only other anorchia patient was 16 years old. She had said she'd reach out to his family to see if we could connect with them for support, but they didn't want to meet. I completely understand on one hand - this is a very private matter and they might not want to but their son out there. But I was very dissapointed and at the time felt like we'd never talk to anyone who knew how this all feels. Glad to be able to bounce things off other families, I think this will prove very useful as our boys grow!!

Dear mom, I am sorry for your journey. I can't believe that still two years later I read a story like this one, so similar to mine, and still brings tears to my eyes. My son got diagnosed when he was only two days old, and we went through everything. I have to ask you: Are you in our support group on Facebook? You can look me up, my name is Hope Trs, please join. I actually know of a mom in the same area you are in, maybe you would be interested in connecting with her. I wish I had somebody in my city. Sometimes I feel so lonely...anyways, thank you for joining and sharing your story. Big hug.

Your story sounds similar to my son's except, I was told there was no problem and he had sx. at 15 mo old. They found that one was gone and the other was very small and probaly nonfunctional, the surgeon said on a typical boy they would have cut it out. The first ped. endocriologist we were seeing believed, asked me what was I exposed to, or did to cause this. I searched for a long time and tried to find out what it was . I couldn't find anything. The endocrinologist we are now seeing who is awesome says there is nothing I did. So we can't blame ourselves just try and do the right things now.

I struggle with feelings of guilt that, it must have been something I did during pregnancy, I fear the fact that i was on an antidepressant or the fact that i had a ridiculous amount of stress in my last trimester ( which coincidentally is when they think development stopped). But I know I shouldn't believe these fears because when I shared my fears with the doctors of the DSD clinic, they kinda chuckled and said, "you don't have that kind of power over the testes"