Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic disorder resulting in a dysfunction of the steroidogenesis pathway and glucocorticoid deficiency. For almost 50 years screening for CAH has been a part of the newborn screening program (NSP), which originated in the USA, and in 2016 was introduced in Poland. Screening is mostly focused on detecting classic salt-wasting CAH and preventing severe, life-threatening complications. In our study, we aimed to analyze the effects and identify challenges in the first few years after implementing screening for CAH in the Polish population.
All 23 patients from the Małopolska region diagnosed in our center since the start of the NSP for CAH in Poland and a random equally sized group of 23 patients chosen from the pre-screening population diagnosed before 2017 were analyzed retrospectively using clinical, biochemical, and hormonal data.
Children diagnosed through NSP were identified in better clinical condition, exhibited less severe electrolyte imbalances, and required lower doses of glucocorticoids.
We observed an overall improvement in the quality of care within our patient population. Nevertheless, we hope for further development in the form of an expanded diagnostic process with faster access to genetic results, novel treatment strategies allowing for lower hydrocortisone doses, and broad availability of educational materials on adrenal insufficiency and its potential complications.
neonatal screening, congenital adrenal hyperplasia, steroid 21-hydroxylase deficiency, hyponatremia
