Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening.

BACKGROUND/PURPOSE: Neonatal screening for congenital adrenal hyperplasia (CAH) has been conducted in Taiwan since 2000. This study aimed to determine the clinical characteristics of Taiwanese children with CAH due to 21-hydroxylase deficiency (21-OHD) detected by neonatal screening.

METHODS: From 2000 to 2015, 26 neonates (14 boys and 12 girls) with classic 21-OHD detected by neonatal screening and confirmed at National Taiwan University Hospital were enrolled. Among them, 22 were diagnosed as salt wasting (SW) type and four as simple virilizing (SV) type. Through a review of medical records, their clinical presentations, laboratory data, and molecular studies were analyzed.

RESULTS: The most common manifestation was hyperpigmentation. All female neonates regardless of 21-OHD type had atypical genitalia, clitoromegaly, and posterior labial fusion. All of the patients had baseline serum 17-hydroxyprogesterone levels higher than normal. Of the 26 patients, 24 had elevated adrenocorticotropic hormone levels, but only four had low serum cortisol levels. The median baseline adrenocorticotropic hormone, 17-hydroxyprogesterone, and androstenedione levels were significantly higher in patients with SW than in those with SV 21-OHD. All patients with SW 21-OHD had elevated plasma renin activity. The most frequent SW 21-OHD mutations were c.293-13C>G and gene deletion, whereas Ile173Asn and c.293-13C>G were the most frequently detected in SV 21-OHD.

CONCLUSION: In Taiwan, neonatal screening effectively leads to the early diagnosis of CAH and reduces fatal adrenal crisis in neonates. This study may provide physicians with a better understanding of the clinical findings among children with early-diagnosed CAH, allowing for better care in the future.