The purpose of this study is to conduct an open, randomized controlled clinical trial, evaluating the effects of different dosage forms of glucocorticoid on the Recovery of Reproductive Function in Patients With 21α-hydroxylase Deficiency.

In the present study, about 120 patients who are more than 14 years old and diagnosed with 21-hydroxylase deficiency will be enrolled from Ruijin Hospital, Shanghai Jiao Tong University School of Medicine in China. Randomisation was computer generated and stratified by subtype and gender. After screening, eligible subjects will be randomly treated with equivalent dose of hydrocortisone, prednisone or dexamethasone for one year.

The treatment regimen was as follows. Firstly, at least one month washout period (withdrawal) was performed before treatment. The initial dose of hydrocortisone (20mg/tablet) was 15mg/m2/day to the maximum dose of 60mg, which was orally administered in three times, with the dose ratio of 2:1:3, and the administration time was 8:00-15:00-21:00. The initial dose of prednisone (5mg/tablet) was 3mg/m2/day to the maximum dose of 15mg. The dosage ratio was 1:2 and the administration time was 8:00 and 21:00. The initial dose of dexamethasone (0.75mg/tablet) was 0.3mg/m2/day to the maximum dose of 0.75mg and the administration time was 21:00.

The primary objective was to evaluate the effects of different dosage forms of glucocorticoid on the recovery of reproductive function in patients with 21α-hydroxylase deficiency. The primary end point is to evaluate menstrual cycles with ovulation in female patients (including menstrual period, menstrual frequency per year) and sperm count in male patients among the three groups. The secondary endpoint were: 1) The levels of progesterone, 17OHP, testosterone, androstenedione, sex hormone binding protein were measured at follicular phase in female patients and male unlimited in the first month and every three months thereafter; 2) The change of BMI, waist circumference, hip circumference, visceral and subcutaneous fat area, body and liver fat content after one year treatment; 3) The change of blood pressure, fasting blood glucose, fasting insulin, HbA1c, blood lipid profile after one year treatment; 4) The change of bone mineral density after one year; 5) The change of mental health status compared with baseline after one year follow-up.

Inclusion Criteria:

1. Patients diagnosed with 21α-OHD. The reference standard was baseline 17OHP (in the morning of follicular phase in female patients, men unlimited) or after cosyntropin stiimulation > 10ng/ml;
2. Age: >14 years old;
3. Post-puberty;

Exclusion Criteria:

1. Other diseases present with adrenocortical dysfunction, such as primary adrenal hypofunction, Cushing's syndrome, pituitary tumor, etc;
2. Other diseases with hyperandrogenemia were not treated, such as ovarian tumor;
3. Other diseases with HPG axis dysfunction were not treated, such as severe obesity (BMI > 35kg / m2), anorexia nervosa, thyroid dysfunction, etc;
4. Other diseases causing ovarian dysfunction, such as ovarian tumor, endometriosis, primary ovarian failure, etc;
5. History of adrenal and / or pituitary surgery;
6. Elevated AST/ALT (AST > 35 U/L, ALT > 55 U/L)
7. Other diseases need glucocorticoid treatment, such as autoimmune diseases such as systemic lupus erythematosus and rheumatoid arthritis, autoimmune diseases such as wind dampness heat, rheumatic myocarditis, idiopathic pulmonary fibrosis, autoimmune liver disease, inflammatory bowel disease and amyloidosis, and allergic diseases such as bronchial asthma, exogenous allergic alveolitis and serum diseases, acute urticaria, vascular edema, hematological diseases such as idiopathic thrombocytopenic purpura, immune hemolysis and aplastic anemia, granulocytopenia, other iritis, keratitis, severe drug-induced dermatitis, eczema, etc.
8. Other diseases may lead to the failure of research intervention;
9. Are currently participating in another intervention study or participating in other drug clinical trials within 30 days;
10. No informed consent was signed;
11. According to the researcher's judgment, there is any situation affecting the study compliance;
12. Any other circumstances that are considered by the doctor to be prohibited from participating in the trial.