Moderate congenital adrenal hyperplasia in two girls diagnosed by newborn screening

Congenital adrenal hyperplasia (CAH) before the introducing a newborn screening was initially diagnosed based on clinical symptoms or positive family history and thereafter confirmed hormonal profiles.

We present two female newborns with atypical screening results born shortly after the introduction of neonatal screening for congenital adrenal hyperplasia in the Wielkopolska region. Female patients 1 and 2 were both born at term and discharged from neonatal departments without any suspicion of disease. After performing complete neonatal screening for CAH, girls were admitted to the endocrine department for further investigations. In both cases, the girls did not exhibit characteristic symptoms of the disease. Using the Synacthen test, we observed an insufficient increase in cortisol and an abnormal increase in 17-OHP concentrations. The 24-hour urinary steroid profile analyzed by GC-MS confirmed the diagnosis. In both cases, treatment with hydrocortisone and fludrocortisone was initiated. Genetic evaluation confirmed mutations in the CYP21A2 gene.

Newborn screening for CAH is useful for revealing a moderate form of CAH and indicates the need to start treatment in cases without typical signs of disease to prevent further virilization and the generation of a GnRH-independent precocious puberty. For nonobvious screening results, clinical information, including any data on virilization, is extremely helpful. Therefore, a careful assessment of newborns' genitalia in neonatal departments is important. The screening laboratory should be informed about any abnormalities to perform a complete screening immediately decreasing significantly the time between taking the paper sample and the final diagnosis.