Hello,

I am the father of a newborn daughter, she was born very premature at 30 weeks (roughly 6.5 months, weight 3lbs), she was losing salt in her first days and newborn testing confirmed she had cah. She had a little clitoris hypertrophy (only grade II, possibly because of her being premature). She was put under treatment with hydrocortisone, 9 alfa fludrocortisone and salt and immediately thereafter her health and tests improved and stabilized.

At roughly 35-36 weeks (5/6 weeks of age), she looked more and more swollen, showed water retention and her weight increased slightly too much (35-40 grams per day instead of 25/30). The doctors reduced salt day by day and one week later she was left only on HC and 9alfa, no more salt added; yet the baby still showed slightly too much weight increase (30/35g/day) and swollen aspect.
The ped said premature baby kidneys mature at 35-36 weeks and begin retaining salt, so this might explain why she was not losing salt anymore.

Now she is 39/40 weeks (2.5 month old), her genital anomaly has almost disappeared (with closed legs her appearance is absolutely normal), and is on 4mg/day hydro (corresponding to 20 mg/sqm/day) plus 0.08mg/day of 9alfa fludrocort. (rather low, from what I read infants should be more on 0.25-0.30). Her 17oh is around 0.5ng/ml (normal should be under 3.0), renine between 30 and 70pg/ml (considered normal under 100). Blood pressure is on average, still she gains a bit too much weight, apparently still a slight water retention. So basically she looks stable.

We received the genetic tests for 21oh and they were negative (hers + mine and my wife’s).
Her endo has asked for further precautionary genetic testing for 11OH. As I understand, this looks unlikely, as 11OH causes salt retention in itself, and added to her 9alfa fc treatment should bring renine very low and increase blood pressure, which is not the case. For the moment, her diagnosis of CAH has been retained, and the above treatment will be continued, with a likely test decrease in 9alfa fludrocort  in the next few days.

The endo made three likely hypothesis:
1. Possibility of an unknown 21OH mutation which is not among the ample spectrum of those already tested (although testing has been made in a very specialized lab, there is one doctor specialized only in 21oh, 11 etc genetic testing), This could possibly turn out to be a milder form of CAH with intermediate symptoms between low salt wasting and simple virilizing.

2. A temporary adrenal insufficiency: the endo said in all her career she has seen only 4-5 cases of premature babies with the same symptoms (genital anomaly, high 17ohp and testosterone levels, salt loss and then retention) gradually disappearing during the first year of life, until treatment was eventually stopped.
I heard of cases of false positive testing at birth, especially for premature babies, still my daughter genital anomalies showed exposure to testosterone in the 30week period after conception, the reason of which should anyway be related to adrenal glands.

3. 11OH deficiency.

I read all of the messages in the archive of this exceptional forum, and cannot thank all the posters too much, it provided me with a lot of information and "you are not alone" comfort during these very tough first weeks of life of my daughter, dealing with the daily, hourly dangers of extreme prematurity and the discovery of her adrenal condition has not been easy and at least for understanding everything related with cah, this site and forum have been invaluable.
Both my wife and myself have gradually grown ready to deal with her need of life treatment, and if one could look at a temporary insufficiency like a miracle, honestly we do not care too much, we love our daughter as she is or will be, each baby needs love and care in his-her own peculiar way and we will do our best whatever she needs.

So, in just an attempt to understand better, my question is: is there anyone among the forum participants having had a clinical picture similar to my daughter’s?
A mild CAH with negative genetic testing of the usual mutations? Or a temporary insufficiency? or any other similarities? any experience or advice ?

 

thank you very much
 
 robert