A novel hemizygous frameshift mutation in exon1of DAX-1 gene (993delC) was found in a patient with late-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism.This mutation led the stop codon to appear in advance of 59 amino acids.His mother and two sisters were the carriers of this hemizygous mutation while his father and brother were wild-type.After glucocorticoid hormone replacement therapy, the clinical symptom was improved, but the level of ACTH was not suppressed.

In our experiment the typical structure of Peyer's patches (PP) of rabbits was absent in neonatal animals, but after birth, it developed gradually and rapidly. On the 6 th day, the lymphoid structure of PP appeared and two types of lymphocytes, T and B, were observed in PP. At the same time, there were some microfold cells in the epithelium of the dome. By half a month, the lymphoid structure of PP matured histologically and later on it was more developed and PP gradually increased in size during the growth of the rabbit. The PP of a 3 month old rabbit were similar to those of the mature animals, but no involution of PP appeared at the stage of sexual maturity.The development of PP in rabbits is closely related to the first antigenic stimulation from the intestinal contents, and T, B lymphocytes and macrophages are present at the start of PP formation. In addition, there is no involution of PP in the adult rabbit. These features of PP in rabbits are different from those of the bursa of Fabricius, so it is inappropriate to regard the PP of rabbits as the homologue of the avian bursa of Fabricius.

Objective: To find the differential expression profiles of circRNA in whole blood and predict its target genes in blood of patients with tuberculosis in Xinjiang, and explore the relationship between circRNA and the development of tuberculosis. Methods: The circRNAs expression in peripheral blood from 3 pulmonary tuberculosis patients and 3 healthy individuals were tested by using circRNA microarray assay. The whole blood from 43 patients with tuberculosis, 40 healthy individuals and 43 patients with pneumonia were collected to verify the results by real-time quantitative PCR system. The possibility of differentially expressed circRNA target genes were predicted by circRNA target gene prediction database. Results: In the results of microarray assay 835 circRNAs were found to be expressed differentially in whole blood between the tuberculosis patients and healthy controls of Xinjiang area, of which 249 circRNAs were up-regulated and 586 circRNAs were down-regulated in the patients. The expressions of four significantly different circRNA were verified by real time quantitative PCR and the results showed that hsa_circ_0008276, hsa_circ_0003452, hsa_circ_0001846 and hsa_circ_0090508 were down-regulated (P＜0.05), and hsa_circ_0090508 was the more specific than the other three circRNAs. The results of circRNA target genes prediction suggested that has-miR-1294, has-miR-604, has-miR-616, has-miR-663b and has-miR-486-3p may be the potential target genes of hsa_circ_0090508. Conclusion The differentially expressed circRNA hsa_circ_0090508 was significantly downregulated in the patients with tuberculosis and may affect the regulation mechanism of tuberculosis through target genes.