Phân loại thể bệnh lâm sàng bệnh tăng sản thượng thận bẩm sinh thể thiếu 21-hydroxylase ở bệnh nhi điều trị tại Bệnh viện Nhi Trung ương

21-hydroxylase-deficient congenital adrenal hyperplasia is a disease caused by the mutation in CYP21A2 gene, which results in the loss or deficiency of the 21-hydroxylase enzyme, a key enzyme involved in the synthesis of cortisol, and then resulting in reducing cortisol synthesis and increasing testosterone synthesis, and thereby leading to the clinical manifestations of acute adrenal failure, virilisation in girls, and early puberty in boys. The clinical manifestations of the disease is various and classified into three major disease categories salt wasting, simple virilisation, and non-classical. Classification of disease phenotypes and clinical characteristics in patients with congenital adrenal hyperplasia is important in the diagnosis and treatment of the disease. The study aims to determine the incidence and clinical characteristics of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 209 patients admited to the National Children Hospital were analysed and evaluated clinically. Results showed that 77%, 21%, and 2% of patients were classified as salt wasting, simple virilisation, and nonclassical, respectively. Patients in the salt wasting and non-classical groups were diagnosed earlier (32 days and 18.5 days) than those in the simple virilisation group (1,590 days) (p<0.001). The proportion of males/females were nearly equal in the salt wasting group (53.4% males and 46.6% females). The simple virilisation group had a higher proportion of female patients (81.8% females and 18.2% males). The incidences of gender ambiguity in female patients in all three categories of salt wasting, simple virilisation, and non-classical were similar (96%, 97%, and 100%, respectively). Acute adrenal failure was found only in patients with salt wasting with 91.8% in males and 78.6% in females.