ShaunP.Carol I agree that what I outlined is attributed to a natural cycle but the trick here as you point out is for endo's to think outside the box and join the dots regarding everything they know medically. It seems to me that CAHyperplasia and CAHypoplasia treatment is way too standardised and trying to fit kids into a round peg when a square one is needed does not seem very common.
Julie, CAHypoplasia is rare because as I understand it the recessive gene is only carried by females and is then passed on to males(50%). Liam was diagnosed at the Childrens hospital in Edinburgh but it took them 3.5 weeks of tests. His ACTH test would have been normal so many wild goose chases were followed. The last case this hospital had (before Liam) was in 1953 where the child died and diagnosed at autopsy. His brother survived because they knew what to look for. He is alive today and is Liam great uncle? He is Liam's great-grandmothers sister's son. Unfortunetly, weird family dynamics on my wife's side ment she met him for the first time at her grandmothers funeral and said he was horrified that his mother introduced him in relation to CAHypoplasia he and Liam had.
As in most places hospitals are fairly closed institutions regarding information and it has only been 5+ years that people have had access to there own medical records offically in the UK. When Liam was born in 92 we had no right of access to his medical file. I did not meet any parents in the UK who's child had CAHypoplasia but there have been a few postings here recently from parents who have babies with CAhypoplasia and I believe there are 6 members out of 400+ on the UK CAHyperplasi support group who have CAHyperplasia.
Liam will have testosterone replacement and the way things are going it will more than likely be a patch or implant of some kind. Got to run, TC
ShaunP..