The physicians did not modify the treatment earlier in the children's lives due to lack of a clear molecular diagnosis hence an imperfect understanding of the disease. Not only could withholding one of the replacement hormones have potentially led to a fatal outcome, but also analyzing the whole genome that led to the diagnosis would have been unthinkable just a few years ago. "Due to the astronomical costs associated previously with analyzing the whole genome, certain genes had to be targeted that were potentially responsible for the disorder and only these genes were analyzed in spite of the risk of not finding the right gene," explains Dr. Samuels, a researcher in human genetics. Today, lower genome analysis costs make an analysis of the whole genome affordable.
Description of the study
The two children in the study were hospitalized at the ages of 4 months or 4 years respectively, for hypoglycemia and associated convulsions. A diagnosis of adrenal insufficiency was made and the two children were saved by administering replacement hormones. Their ACTH (the pituitary hormone that controls the adrenal gland) blood concentrations were very high, which seemed to implicate the adrenal gland. The adrenal gland produces two vital hormones: cortisol to regulate glycemia and aldosterone to control minerals. When in doubt, in the event of adrenal insufficiency, both hormone types (cortisol and fludrocortisone, an aldosterone analogue) are prescribed. Nevertheless, fludrocortisone treatment can lead to side effects such as hyp
|Contact: William Raillant-Clark|
University of Montreal