ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Endocrine Society 2020; 4 (2): 1–13. doi: 10.1210/jendso/bvz013

• The authors performed a retrospective analysis of the economic burden in a cohort of 195 patients with genetically confirmed CAH born in São Paulo where there is presently no neonatal screening for CAH.• The cost associated to mortality of undiagnosed patients was estimated to range from $2 239 744 to $10 271 591 per year.• The mean total cost until 19 years of age (diagnosis, standard treatment, and adverse outcomes) was much higher for a patient with salt wasting CAH ($89 349) compared to a patient with simple virilizing CAH ($5922).

This study is the first step towards a cost-effectiveness analysis that will compare the cost of caring for patients with congenital adrenal hyperplasia (CAH) with and without the implementation of a newborn screening program for CAH. Presently, this screening does not exist in São Paulo. The authors estimate the medical cost of caring for patients with CAH from birth to 19 years. They should be commended for their attempt to include in this analysis as many aspects as possible of treatment cost, including mortality (unrecognized affected patients), dehydration, mental impairment, hospitalization, hormonal determinations, medicines for standard (corticosteroids) and extended (GnRh analogues and growth hormone because of late diagnosis) medical treatment. Their experience brings to mind several comments. First, like many countries where neonatal screening is not available, there is an excess of female compared to male patients, reflecting the greater difficulty to diagnose CAH in male neonates in the absence of genital abnormalities. However, the percent of male neonates diagnosed clinically with CAH has increased markedly from before 1989 (25%) to after 1999 (41.7%) thanks to increased early recognition. Second, sex assignment error (male sex wrongly assigned to female neonates) emphasizes the importance of performing a thorough medical examination of each neonate, an issue common to many low resource settings. Third, the authors could not estimate the effect of sex error assignment or late diagnosis (with more severe virilization) on quality of life and on psychological outcomes. Whether or not, in the Brazilian context, the future financial analysis will show that a neonatal screening would be cost-effective remains to be seen. However, from a human perspective, prevention of neonatal deaths, prevention of mental retardation, less severe virilization and proper sex assignment may be regarded as priceless.