Central Precocious Puberty and How It Affects Our Lives

Central Precocious Puberty and How It Affects Our Lives

Precocious Puberty and its Impact on Our Lives

“Little did they think that at 18 months, their daughter would be diagnosed with the onset of puberty.”

When Holly’s daughter entered early childhood, she noticed puppy fat around her daughter’s breast area. After much discussion, Holly and her partner decided to check it out. Little did they think that at 18 months, their daughter would be diagnosed with the onset of puberty. But this would not be the only diagnosis their family would receive.

Four months into our relationship me and my now husband found out we were expecting another bundle of joy. Already parents to two girls each from previous relationships, at our 20-week scan we knew that our little baby was going to be another girl. This was confirmed by the sonographer and we were elated. Due to already having four girls we knew exactly what treats were in store for us and what to expect. Well, this is what we thought…………

Our daughter was born in March 2011 and we were simply over the moon. Weighing a healthy 8lb 10oz she was a normal chubby, bouncing baby girl and nothing seemed out of the ordinary. As she grew and started to become more active, her body frame started to slim down leaving her chubbiness behind. This is when we noticed what we thought was puppy fat around her breast area. Chatting to my husband and family members with daughters, it became apparent that maybe it was worth getting her checked out by a doctor.

Initially the doctor was not concerned but, as precaution, sent us along to the endocrine consultant at our local children’s hospital. We were not told anything by the GP just that he thought it was a condition called ‘Thelarche’ which is the onset of female breast development. We didn’t really think anything of it and thought maybe it was extra oestrogen that was exchanged at the time of our daughter’s birth.

When we were greeted by the consultant she weighed our daughter and also took her height. She agreed that our daughter was over the percentage she should be when it came to both of these measurements and quickly discussed a condition called Central Precocious Puberty. It wasn’t a long discussion more a passing comment and booked our daughter in for the following week to have blood tests to check her LH and RH levels to determine if she had the onset of early puberty.

This was such a distressing thing for her to go through at the young age of 18 months; however, we are so glad that we went with our gut instinct to get her checked as 5 weeks later she was diagnosed with the onset of puberty.

“This time for us all, as a family, was heart wrenching waiting to hear the results felt like weeks not days.”

e were so devastated and of course started googling the condition and reading horror stories of how tumours pressing against the pituitary gland could be the cause. After the diagnosis, our daughter started hormone injections every 28 days and was sent for an MRI scan and a scan on her uterus.

This time for us all, as a family, was heart wrenching waiting to hear the results felt like weeks not days. The results came back and nothing showed up on the MRI; however, her uterus was the size of an eight-year- old girl. More bone scans were done on her wrist to check her bone development and yet again proved to be older than her years.

Our daughter is now 5 years old and is doing great, still visiting our local hospital for hormone injections every 28 days and has built up a great relationship with the endocrine nurses, she has almost become desensitised to the injections now and takes it in her stride. I tell her she has them because she is special and to keep her little. She does, however, still continue to have mood swings like a pre-menstrual teenager. She can lash out and has real trouble sleeping at night, which appears to be a side effect from her hormone medication.

She needs personal hygiene care during the night and can show some teenage girl traits; greasy hair, outbreaks of spots and body odour. Pubic hair has also become prevalent as time has gone on.

This condition has been hard to get a grasp of. There isn’t a lot of information online and all appear to be from American sources where they use different medications to medicate with.

Our daughter will stop treatment at the age of ten and hopefully go on to have a normal menstrual cycle, although I do worry what the future will hold.

“After a GP referral, consultant appointment and blood testing our worst fears were confirmed; my daughter had started puberty at 7 and a half years old!”

This condition has been a big part of our lives and although manageable hit us with another bombshell in winter 2013. At the age of 7 and a half years, my biological daughter from my previous relationship came home from school telling me that she had found blood in her knickers. On closer inspection it appeared to be period blood. I was completely beside myself thinking, ‘not again, what have my family done to deserve this?’ Trying to hold back my tears and console my daughter at the same time was just unbearable.

I called the endocrine team who informed me that I would have to go through the GP for a referral. I am not going to lie, I was upset at this and wondered, that with another child with a rare condition and the same symptoms, why could they not just see us straight away?

After a GP referral, consultant appointment and blood testing our worst fears were confirmed; my daughter had started puberty at 7 and a half years old! After numerous discussions the consultant gave us a choice whether to let my daughter continue to menstruate or to medicate her with hormone injections. Apparently it’s considered normal for a child of eight years old to start menstruating.

We went home that day trying to fathom how to discuss this with my daughter. She hates needles and really was against the idea of monthly injections, however, as parents we felt like she wasn’t mature enough to have a period and have to deal with that every month (it’s bad enough for us as women). We all agreed that the best thing to do was to start treatment asap and her biological father agreed with this, too.

Obviously, being that much older than my younger daughter, I had to sit down and explain why periods happen. Something that I didn’t want to do at such a young age, however, it was appropriate for us as a family. Even my six-and- a-half- year-old daughter was intrigued.

My eldest daughter continued with the injections for two years but, unfortunately in November 2015, started bleeding again, breaking through the injection. It was decided that in my daughter’s best interest, she would come off the injections as she really did struggle with them, although they were moved to one every 11 weeks they just were not having the desired effect. This was due to her weight and height. She hasn’t had a period now since January 2016 but, her mood swings are all over the place. She looks a lot older than her years and her body shape is like a curvy woman’s.

Although this condition has been a big part of our life we cannot thank our lucky stars that we pop into the hospital once a month and get to bring our daughter home after her treatment, something that other parents aren’t so lucky with.

Shelly

Shelly

As a child Shelly was diagnosed with Premature Sexual Maturation, but to her this is now a thing of the past. Shelly likes to look to the future and has kindly written about her life now.

After I left my secondary school I decided to start a Foundation course at KIAD. I needed this top up year to go to university, and art was the subject I wanted to study. I found KIAD extremely hard as the standards were so high; unfortunately I was referred that Christmas. I felt my work was fine but the teachers didn’t agree with me. I was given extra work to do over the Christmas period and returned to KIAD a new student. My grades went up; I worked my socks off! One teacher said “you could actually be a graphic designer” which made me very happy. At the end of the year we put an amazing show on of our last project and I was so proud of my work.

My next challenge was UCAS and finding the right university to enhance my skills. I didn’t have much time to look around and decided to apply to two universities; Ravensbourne which was nearby and the University of East London; they both had a graphic design course. My heart was set on Ravensbourne. I was very excited when I got an interview but on the day, to my horror the interview was terrible. It was no surprise when a letter came through saying I had not been accepted. A couple of weeks later I got an interview for the University of East London, again I was very excited. At the interview we were told that the course had completely changed, instead of graphic design the course had been split into about seven subjects. We were asked to choose one or two subjects before we went for our interview. I chose printmaking and book arts and illustration. The interview went great; the person loved my work and asked me to talk about different pieces. I was very happy and optimistic that I would be accepted. I was overjoyed when I got the letter confirming this.

During signing in week the university put me in double honours and I didn’t know what to do. I finally got on the right course; just book arts and illustration! The first day I met the people in my class, they seemed lovely, but there was no sign of a lecturer. We were told he had been employed for the second week and that this week we have to look up illustrators in the library. This should have been a warning of things to come. The lecturer was amazing; he was motivating and creative but very critical. Unfortunately, he quickly left the university, another lecturer lasted a day, and we had computers with no mice, meetings that didn’t solve anything, completed set work and then told that it wasn’t going to get marked. All this was very de-motivating, but we thought this is the first year of the course, so let’s see what happens. We then got a new lecturer, she was great, very organised and on the ball, very motivating. In the last term the lecturer was away on a course and things deteriorated. Our group of friends started arguing, we turned up at lectures only to be sent home because the lessons had been cancelled. Teachers were not showing, I was feeling awful about the course but we did have a great project. We put an exhibition on as a group of seven and showed our work. The show went really well and we got some very good feedback from it.

I had had enough and I wanted to try another university for my last year. I decided to take a year out! I was so lost I didn’t know what to do. I was working part time in a woman’s fashion shop so I increased my hours but soon decided I wanted to try something different.  I couldn’t apply for another university for a couple of months so I decided to leave the clothes shop; I got a job with full time work over Christmas. I knew what university I wanted to go to – KIAD in Maidstone; I loved KIAD in Rochester so much that I knew it was the right place for me. After Christmas I came across a job in the job centre at a tickets place providing audience tickets for TV shows. The next day I got a phone call for an interview. It went great, the interviewer felt my bubbly, loud and friendly personality was right for the job and there and then asked when I could start. He said that he couldn’t give me full time hours but he would work around my hours at the Pier; I’m still working there now.

I loved the KIAD campus at Maidstone and on open day I saw some of the work and had my interview. I was not confident about the interview because the lady wasn’t eager to share if I was accepted or not, but I got the letter to say I got in. I was so happy and I rang up everyone. I felt I had made the right decision. At Maidstone I will be living in student accommodation with 3 other people. I am still working providing tickets for all different TV shows. The Pier is great, I work three nights a week but it’s very quiet. I don’t know if I’m going to keep up my jobs when I go to university. I am just going to wait and see what happens, but I can’t wait to embark on my fresh new life in Maidstone, studying Illustration.

Shelly

Oliver

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.