Congenital Adrenal Hyperplasia
Adrenal Hyperplasia is
an endocrine disorder that is also tested in the expanded newborn screening.
What is Congenital Adrenal Hyperplasia (CAH)? Is this disorder something that we parents
should worry once we get the result of the newborn screening and our baby has this disorder?
Congenital Adrenal Hyperplasia is the result of a genetically determined inborn error in the synthesis
of cortisol. This is due to an enzyme defect which is transmitted as an autosomal recessive gene and affects males more often than females. Because of the decreased levels of cortisol and through a negative feedback mechanism, there is an increase in ACTH secretion which in turn leads to hyperplasia of the adrenals and to an excessive production of androgens.
There are six known clinical forms of the disease depending on the site and the severity of the
enzyme deficiency:1. 21- hydroxylase
– this is the most common and accounts for more than 90% of cases
– may present as simple virilizing type
– if there is salt loss, it may also present vomiting, poor feeding, signs and symptoms of dehydration
which may progress to shock, weight loss and failure to gain weight and may appear as early as 7 to 10 days after birth
2. 11- hydroxylase
– accounts for 5% of cases of congenital adrenal hyperplasia
– may present as virilization plus hypertension
The diagnosis of Congenital Adrenal Hyperplasia depends first on a good history which may reveal similar signs
and symptoms in siblings. The expanded newborn screening test is an important tool that helps in the diagnosis too. Once established, newborns are referred to specialists for immediate treatment and management. Psychiatric support and guidance for parents and child is also of utmost importance.