Sunday, March 13, 2011

A difficult journey

I am the mom of a beautiful, beautiful boy that unfortunately was born with undescended testes. After several lab tests we found out that most likely, his testes have vanished or they simply are non-functional due to non detectable testosterone and anti-mullerian levels.

He was diagnosed with hypogonadism and my husband and I were devastated, this is something you certainly don't expect and much less in your first experience as parents. I thought I did everything right. My pregnancy was very healthy, I only drank spring water, I even boiled my pasta with spring water! I took my vitamins, I did not gain weight, I quit cleaning or dying my hair to avoid chemical boy was full term, weighed 9 pounds,but his scrotum was empty. Looks like a mutation happened the last months of my pregnancy that prevented the testicles from dropping and most likely they got damaged at some point.

His penis size is what it is considered "normal" on the low side but his father and I are concerned about its growth. We heard there is a study in Philadelphia that says that if an infant with this disorder gets testosterone on his first months of life his penis will have a normal growth, because that is the way it happens in normal boys.

We went to an endocrinologist who does not agree with that, so we are going for a second opinion. We definitely want the shots since we think that dealing with an empty scrotum and shots the rest of his life are hard enough, we don't want him to be concerned about his size too.

I have to confess that I am very scared about the future, and the happiness I feel for the arrival of my baby is shadowed by this finding.

I want to find the cure!

I believe the regeneration of the testes is the solution. It is being done right now and hopefully in 10 years will be more real.

I saw this video and felt really hopeful:

I started this blog to share my experience and also to invite other people dealing with anorchia. I would like to start a web site in the near future because I want to share not only experiences but also research papers that can give us some light and guidance in this difficult and still unknown journey.


  1. My son was born with congenital anorchia. I was 1st told that he had undecended testicles and they would come down on their own. After a few months, I went to another pediatrician for a 2nd opinion. I was then sent to a pediatric endocrinologist. I am very blessed to have such a wonderful doctor who has treated patients just like my son. Only 5% of boys are born with this condition and my son was the Dr's 3rd patient. He knew exactly how to treat, what info to give me, and how to handle the future.
    At 5 months old, my son had an ultrasound done on his abdomen. This was done for 2 reasons: 1. To be sure that he had male sex organs and not both male and female and 2. To look and see if the testes were indeed in the abdomen. Yes, my son is "all boy" he has male sex organs but no testicles. The news was devastating to me, I felt I did something wrong. My doctor assured me this had nothing to do with me, it was mother nature and I could have in no way made this happen to my son. I guess as a Mother you feel guilt when you find out something is wrong with your child. At 5 months old, my son had surgery. Exploratory abdominal surgery and testicular implants. He then started low doses of testosterone after surgery. Injections every week to every other week. He had regular xrays to check bone growth/age. He also saw the pediatric endo. every year. As a baby, the injections were not long term, just enough for growth and to get levels in his body. At the time of diagnosis, my son had no testosterone in his system! My son is now 11 years old. The doctor and I talked with him about his condition when he was 9 years old. He understands but it was heartbreaking, I stayed strong for my son but let it all out that night after he went to bed. He will see his doctor in June and begin testosterone therapy-it will be forever now. The therapy begins when puberty is present. I was told that testosterone isn't what kicks starts puberty, it's the adrenal gland. My son will grow hair, get a deeper voice, etc all w/o testosterone. He will need the hormone for muscle growth and genital growth. My son also has the option of having another surgery to put in bigger implants if he chooses.
    I am very happy there is a support group available for us. I have searched the Internet for years and all I've found is sites that make you pay which is ridiculous. I am glad I can share my son's story, read about other people's experiences and ask questions. I am a single Mom raising my son, he is my only child. Not only does he have a fabulous doctor but my son and I have a very open relationship and he is able to ask me anything when it comes to his condition. I am glad that my son knows and trusts that he can ask me anything and I will help him in any way possible, If I don't a have an answer, I simply tell him that and then contact his Doctor and we work through it. I look forward to reading others stories and know that with all of us supporting one another, we will raise awareness and a cure will soon be found! I have a page on facebook that I invite you to join and place information or experiences on the wall for others to see, it is my hope that maybe a health care professional or (fingers crossed) a physician comes across the page and it piques their curiosity to research anorchia and one day find a cure or just give us more answers as to why.

  2. I am not sure if you continue to monitor this page...I am a concerned mother because my son's story is so similar to your own. Is there any way you can reach out to me...tell me know I can join the facebook page? My e-mail is Thank you in advance!