Congenital Adrenal Hyperplasia [dot] org

Hi Adam

As Megan says, I did write an article for the UK support group newsletter on the pretty frightening experience of one of our younger members diagnosed with testicular tumours(copied below). Hedi L. Claahsen Van der Grinten from the Netherlands has done a lot of research on this subject and has actually recently had a book published entitled 'Adrenal Rest Tumours in Congenital Adrenal Hyperplasia', ISBN: 978-90-9022195-3. Adrenal rest tumours are actually quite common in CAH, a recent paper mentioned they are present in over 90% of males with the condition, so as long as you are seeing a specialist with the relevant experience of CAH, there should be no question of an orchidectomy being performed! As you know, these tumours are benign and although they can be uncomfortable, they are harmless and the endocrinologist you see, should prescribe appropriate treatment, NOT surgery!

Good luck!

Sue

Adrenal Testicular Rest Tumours

I am becoming increasingly concerned by the number of adolescent males with CAH that I have heard about recently, diagnosed with testicular tumours. A couple of months ago I received a telephone call from the distraught mother of a 16 year old who was booked in to have both testicles removed at a private hospital the next day, as a urologist diagnosed cancerous testicular tumours, although no biopsy had even been performed! The family had not realized that ‘tumours' in the testes could in any way be connected with his CAH and although the condition was of course mentioned to the urologist, he obviously could not see there was a connection either and told the family that an orchidectomy was necessary as soon as possible, as tumours in the testicles are very rarely benign.

After speaking to this lady on the phone and informing her of the possibility that these tumours could in fact be harmless adrenal rests, I suggested she cancel the operation, at least until her son had seen his endocrinologist so that further investigation could occur. I then contacted the boys specialist myself, to alert him of the situation. He immediately phoned the family, arranged an urgent appointment with a urologist in his team, as well as a follow up consultation with himself. As suspected the ‘tumours' were harmless adrenal rests which may be a nuisance and can affect fertility, but they are NOT life threatening!

I have heard of other teenagers developing adrenal rests, although thankfully none that came so close to unnecessary and life changing surgery. In general I think this is viewed as an ‘adult' problem and maybe therefore the responsibility of adult endocrinologists but I do think it is important that paediatric endocrinologists make male patients aware of this possibility too. Adrenal rests often occur during puberty, as this is generally when patients can go out of control. It is quite common for teenagers with CAH (as with other long term medical conditions) to experiment and perhaps miss tablets, believing they are unnecessary or are making them fat and adrenal rests are one of the major side effects. Girls of course don't have this problem but can develop polycystic ovaries as a consequence of poor control too, which also affects fertility.

My own son had a testicular scan during puberty, as a matter of course, although we had no reason to suspect rests, as his control during this time was very good. I note from the survey I published in our last newsletter that they are not offered routinely by all paediatric endocrinology teams though, perhaps they should be? I certainly do believe that boys should be made aware of the importance of self examination and that they know about the possibility of testicular rests. The unnecessary distress caused to the family mentioned could have been avoided, although fortunately, had surgery occurred, it could have been a lot worse!