Survey the factors of early screening and diagnosis in congenital adrenal hyperplasia for newborns with skin hyperping mentation.

To explore the significance of serum testosterone level and blood chemistry in clinical diagnosis of congenital adrenal hyperplasia for newborns with skin hyperpigmentation. Forty eight newborns were enrolled into the study. Serum testosterone, cortisol, serum potassium, serum sodium, blood PH, bicarbonate and plasma glucose were measured. The babies were divided into group A (with electrolyte disturbance) and group B (without electrolyte disturbance). Differences in serum testosterone, cortisol, blood chemistry were compared between group A and group B. Children of Correlation between serum testosterone, blood chemistry, plasma glucose and blood PH was also studied. Children of group B were followed up. Serum testosterone was higher in the 48 newborns with hyperpigmentation than that in the control group [(17.81±15.89) nmol/L VS (1.77±0.80) nmol/L, t =5.50, P 0.01]. Significant correlations were found between serum testosterone, blood PH, serum sodium, serum potassium, serum chloride and bicarbonate. Group A (18 cases) had higher serum testosterone level than Group B (30 cases),[(32.75±16.21) nmol/L, VS (8.85±5.80) nmol/l, t =7.36, P 0.001]. Hyponatremia, hypochloremia, hyperkalemia and metabolic acidosis were found in group A. Fifteen cases of group B were followed up. After 6 months’ followed up, serum testosterone levels were below 0.7 nmol/L in 12 cases, and in 3 cases, serum testosterone levels were ranged from 1.4 to 16.7 nmol/L, one case was diagnosed CAH (non saltlosing type).[Conclusion] Serum testosterone, combined with clinical significance and blood chemistry are contributed to early diagnosis of congenital adrenal hyperplasia in newborns with skin hyperpigmentation.