Names of individuals and places have been replaced in this article for reasons of privacy.
Oliver was our first born and arrived 5 weeks early. He was well, although a little small. However he started to grow and was soon on the top centiles for weight and length. Looking back now, we can see from about the age of 3 ½ years Oliver started to become more “solid” and muscular, losing his childish features. He began to grow body hair, including some pubic hair, his face became red, irritated and pimply and we occasionally got the odd whiff of BO. But, either through ignorance or naivety, it wasn’t until he was 4 ½, when he towered over his peers, that I mentioned to a health visitor about our concerns. She told us to see the GP, which we did and she immediately referred us to the endocrinology department at our local children’s hospital. We were devastated that there may be something wrong and we hadn’t done anything about it sooner.
We were seen within a couple of months and on that first appointment were told that Oliver had precocious puberty. The endocrinologist told us the basics of precocious puberty (which all went over our heads that day) and explained about a series of tests that needed to be done to find the cause. He told us that it is much more common in girls than boys and in boys it is often a brain tumour!!! Even though he was tall now, if left untreated he would probably stop growing early and end up a short adult, maybe less than 5ft. This suddenly sounded serious! Oliver underwent a bone age x-ray – which showed his bone age was 7 1/2; a range of blood tests to check baseline hormone levels – which showed his testosterone levels to be elevated; an MRI of his brain under general anaesthetic – which was normal and an ultrasound scan of his tummy – which was also normal. His advanced bone age and high testosterone levels confirmed precocious puberty and he was started on Decapeptyl injections immediately. The endocrine nurses were lovely and spent time making a sticker chart for the injections, but he found them very painful and the whole experience was very distressing for all of us. The play specialist was also great and we had sessions with her outside of appointments to try and help Oliver understand his anxiety and fear.
We were warned that the injections may initially increase his growth but should then slow down. Oliver was due to be reviewed in 6 months time. However after 3 months we could see no improvement and being an impatient person, I got in touch with the doctor and explained my concerns. We were told it was “idiopathic precocious puberty” ie no known cause! I was not happy with this and immediately went about researching other causes in boys. Most of the literature concerns girls as there aren’t as many cases in boys. I am a nurse myself so fairly confident reading medical literature, as well as questioning doctors diagnoses! The doctor saw us fairly soon and listened to my findings and agreed to do several other tests. At that appointment the doctor thought the most likely other cause was testotoxicosis, which is a male genetic disorder. He said he would find out where genetic sequencing could be done to confirm this but Oliver was started on the treatment for it straight away. This was 2 tablets in the morning, Cyproterone and Anastrazole, and one in the evening as well as increasing the Decapeptyl from 10 weekly to 8 weekly. He underwent the further tests, one of which was particularly distressing for Oliver. It was like a glucose tolerance test, where he went to the hospital starved and then had to drink an amount of a sugary drink, while having serial blood tests done. He didn’t like the lemony drink and refused to drink it so he was held down while the drink was syringed down his throat, causing him to gag and vomit. My husband called me to the hospital where I found a very distressed, pale boy and a completely guilt ridden husband. When the test results came back the endocrinologist didn’t know how to interpret them anyway as the test isn’t usually done in children!
Another 4 months on and things were not improving. I therefore started to doubt the diagnosis of testotoxicosis and began searching again. I would be up until the early hours most nights searching Google and reading very complex medical papers. I found one that just seemed to be describing Oliver and his symptoms. This described a boy of similar age who was found to have a Leydig cell adenoma (a very rare testicular tumour in which the tumour produces its own testosterone). I immediately wrote to the endocrinologist and included a copy of the article. I also wrote a list of things I wanted him to arrange, which included a testicular ultrasound, which I had asked for at every outpatients appointment but was told wasn’t necessary because he couldn’t feel any abnormality (these tumours are usually in the middle of the testis meaning it can’t always be palpated); the genetic sequencing to rule out testotoxicosis and a referral to the psychology department because by now James was so traumatised by hospital visits that he would be vomiting from the night before an appointment and on the journey there and home again. These were all actioned fairly promptly. As soon as he had the ultrasound scan they knew something was wrong and we were referred to an oncology surgeon. He couldn’t absolutely confirm the diagnosis before surgery but recommended that the testicle be removed as it looked abnormal. However he couldn’t guarantee his findings or that the puberty may not be slowed ie he could remove a healthy testicle. This was a very difficult decision to make as you only want to do what is right for your child. On the specialists advice we went ahead and in July 2008 Oliver had the testicle removed. After his operation, the surgeon came to reassure us that it was an abnormal testicle but we had to wait for pathology to identify it. Oliver recovered well from the operation and it was later found out it was a Leydig cell adenoma and fortunately benign, although clearly not benign for his growth and psychological wellbeing. I was very disappointed that we had had to push so much for the doctors to get the right diagnosis and treat him properly. The whole experience has left me very distrusting of the endocrinologists and because it is such a rare tumour, there aren’t the cases to refer to for future management.
However 18 months on Oliver is off all medicines and continues to grow, although the endocrinologist tries to convince me that his rate of bone age maturation is slightly slowing down. He is now just turned 7 and is 145cms tall, with a bone age of 10.7 years. He still has pubic hair, occasional acne and BO. They think these may stay but hope his growth will slow down to allow him to reach a “normal” adult height. But who knows? My little boy grew too fast and I am now unable to pick him up or even fit him on my knee for a cuddle very easily. Being taller than everyone else might not seem like a big deal but it is the small every day things eg I am struggling to find him dressing up clothes that fit for a school dressing up day. Most 11 year olds have grown out of that. He has never suffered with emotional outbursts or physical tempers you might expect with high testosterone levels and is almost the opposite as he is a gentle sensitive giant. He has coped with things better than us in many ways as his understanding is very basic. He seems to ignore the daily comments about his height and instead enjoys the benefits such as not needing a car seat and winning at basketball in the playground! I urge parents to go with their gut instincts and keep pushing at the doctors if you aren’t happy with the care your child is receiving. Other parents we have met through the CGF have similar stories to tell about a battle with the doctors, so we must do the right thing by our children.