ESPE Abstracts

Background: The incidence of 11β-hydroxylase deficiency is quite low in China, less is reported about the gene mutation in Chinese population.

Objective and hypotheses: To analyze the clinical features and CYP11B1 gene mutations of a family with 11β-hydroxylase deficiency (11β-OHD) and literature review were also included.

Method: Physical examination and laboratory tests were done on a 4 years old girl and gene mutation screening was conducted in her and her parents.

Results: The adrenocorticotropic hormone (ACTH), 17-hydroxyprogesterone(17-OHP) were normal and testosterone, DHEA, estradiol, serum sodium levels increased while potassium and renin levels decreased. Bilateral adrenal enlarged according to CT scan. A novel compound heterozygous mutation R453Q/R374W was found in the patient and the mother was found to carry R374W allele and the father was found to carry R453Q allele. R453Q was a missense mutation previously reported to cause the disease. R374W was a novel missense mutation that was predicted to lead to decreased 11β-hydroxylase activity. The indicators of the patient recovered and keep normal under hydrocortisone. According to the literature review, the prevalence of the disease is likely to be lower in China than previously reported in other countries.

Conclusion: A novel compound heterozygous mutation was found to be a disease-causing mutation. Hydrocortisone is suggested other than dexamethasone in treating 11β-OHD in Child.