Phenotypic Spectrum of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Identified via Newborn Screening
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Abstract
This case-series study enrolled 45 children with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency with the aim to describe the clinical and biochemical characteristics of the disease; the condition was identified through newborn screening at Vietnam National Children’s Hospital between October 2022 and December 2025. The proportions of the salt-wasting (SW) and non-salt-wasting forms were comparable (48.9% and 51.1%, respectively). The median age at diagnosis was significantly higher in the SW group than in the non-salt-wasting group [12.0 days (IQR: 8.25 – 14.0) versus 6.0 days (IQR: 5.0 – 9.0); p < 0.05]. Dehydration was observed predominantly in the SW group (50.0%) compared with the non-salt-wasting group (4.3%) (p < 0.05). Genital hyperpigmentation was common in both groups, and 78.9% of female patients had virilization of Prader stage III or higher. The SW group showed significantly more severe electrolyte disturbances, with lower sodium and higher potassium levels compared with the non-salt-wasting group (p < 0.05). Levels of 17-hydroxyprogesterone (17-OHP) and urinary pregnanetriol were also significantly higher in the SW group. These findings highlight the important role of newborn screening in the early detection of CAH, particularly in male infants with the salt-wasting form who are at high risk of adrenal crisis.
Article Details
Keywords
Congenital adrenal hyperplasia, 21-hydroxylase deficiency, newborn screening, salt-wasting, simple virilizing
References
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