Radboudumc
Correct medication dosage prevents complications
Congenital adrenal hyperplasia (CAH/AGS is a serious congenital disease of the adrenal glands. The condition is rare and is detected in newborn children through the heel prick. With proper medication, children usually grow up without many problems. But what is the best intake schedule?
At first, newborn children with CAH/AGS (the suffix AGS stands for adrenogenital syndrome) do not have any major problems. But that doesn’t last long. Their adrenals do not produce a sufficient amount of the stress hormone (cortisol) and usually not enough of the salt hormone (aldosterone). Consequently, they get dehydrated and lose weight. Left unchecked, the children go into shock. This can eventually even result in their death.
Difficult to predict
In addition to the lack of cortisol, there is in fact also an excess of male hormones. Treatment involves the use of cortisol, which instantly lowers these hormones at the same time. The only problem is that it is hugely difficult to predict the precise effect of the medication on a child. Many patients with CAH/AGS are not correctly prescribed and over or underdosing is common. Since it’s impossible to know the best dosage for each individual, many suffer complications later in life, including infertility and cardiovascular disease.
Quality of life
Radboudumc is currently investigating biomarkers – measureable indicators present in the body – that will predict the child’s response to medication. That will provide information about the appropriate intake schedule for an individual. Early intervention saves lives in the case of CAH/AGS. Moreover, the more precise the treatment, the better the quality of life overall. Which is doubly beneficial to this group of patients diagnosed with a rare disease.