Abstract
Neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency is now performed in an increasing number of countries all over the world. The main goal of the screening is to achieve early diagnosis and treatment in order to prevent neonatal salt-crisis and death. The screening laboratory can also play an important role in increasing the general awareness of the disease and act as the source of information and education for clinicians to facilitate improved initial care, ensure prompt and correct glucocorticoid dosing to optimize the long-term outcome for the patients. A National CAH Registry and CYP21A2 genotyping provide valuable information both for evaluating the screening program and the clinical outcome. The Swedish experience is described.
Highlights
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) results in cortisol and aldosterone deficiency
Around 10% of the mortality in CAH was caused by suicide [12] but in males with CAH born after the introduction of the neonatal screening no increase in any psychiatric disorder or suicidality were seen [32]
In a Swedish cohort of children with CAH, with good metabolic control, that was identified through neonatal screening and treated early with a three- or four-dose regimen with hydrocortisone we could not see any negative impact on executive functioning or memory [46]
Summary
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) results in cortisol and aldosterone deficiency. Before neonatal screening was implemented there was a marked female preponderance among patients with CAH since boys with CAH were diagnosed less often due to a lack of obvious clinical symptoms prior to developing a life-threating salt-losing adrenal crisis in the neonatal period [2]. The main goal of the screening program is to prevent adrenal salt-crisis and death in the neonatal period [5]. The care of individuals with CAH has developed over the past 50 years and the focus is nowadays on identification and diagnosis to save lives but the aim is to improve long-term outcomes and quality of life for the patients [6]. The combination of an efficient neonatal screening program and an optimal treatment and follow-up is key to achieving best possible long-term patient outcomes. We describe the Swedish experience and the outcomes and benefit of a close collaboration between the screening laboratory, clinical care, and follow-up
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