Clinical Analysis Of 33 Cases Of Congenital Adrenal Hyperplasia

Object Congenital adrenal hyperplasia(CAH) is a family of inborn disorders of steroidogenesis.In patients with CAH presenting with specific enzyme deficiency,the correct diagnosis is often missed and delayed.The aim of the study is to improve diagnosis of CAH,and to avoid the happening of severe complications, thereby to improve the patients'life quality.Methods 33 patients with CAH were studied with respect to etiology,clinical manifestation,relevant laboratory examinations,mistaken diagnosis and the keypoint of diagnosisResults 1.Mistaken diagnosis rate of CAH is over 30%, and it is should be paid special attention.2. Clinical types: typeⅠ, which is charactized by 21-hydroxylase deficiency, is 93.9% of the cases; typeⅡ, which is charactized by 11β-hydroxylase deficiency, is 6.1%. 3. Correctly identifying the form of CAH is achieved by the observation of clinical syndromes reflecting distinct hormonal patterns.In the severe, or classical form of CAH owing to 21-hydroxylase deficiency (21-OHD), adrenal androgen overproduction causes prenatal virilization in females and continued masculinization postnatally in both sexes.In salt-wasting type of 21-OHD patients are also found metabolic acidosis and electrolyte disturbance.Hypertension is observe in patient with 11β-OHD.Conclusion CAH is not rare in the childhood and the high prevalences of mistaken diagnosis rate shoulds be paid great attention to. Clinical manifestation of CAH is complicated. Diagnosis of CAH should be taken from three ways: clinical symptoms, laboratory examinations and gene analysis. At the present stage, clinical diagnosis is definitive.