OBJECTIVE To compare the effects of leuprorelin and mifepristone on sex hormone levels， ovarian function， adverse reactions， and recurrence in patients with endometriosis （EMs） after surgery. METHODS A total of 178 patients who underwent surgical treatment for EMs in Ji’an Central People’s Hospital from September 2021 to September 2023 were randomly divided into the leuprorelin group and the mifepristone group， with 92 cases in each group. Medication was initiated on days 1 to 5 of the first menstrual cycle following surgery. Patients in the leuprorelin group received subcutaneous injections of Leuprorelin acetate microspheres， 3.75 mg per time， once every four weeks， for a total of 6 injections. Patients in the mifepristone group took 12.5 mg of Mifepristone capsules orally once daily for six consecutive months. Visual analog scale （VAS）， serum sex hormone levels [follicle-stimulating hormone （FSH）， luteinizing hormone （LH）， and estradiol （E2）]， ovarian function indicators [anti- Müllerian hormone （AMH）， antral follicle count （AFC）]， and T helper 1 cell （Th1）/Th2 shift markers [interferon-γ （IFN-γ）， interleukin 2 （IL-2）， IL-4， and IL-10] were compared between the two groups before surgery and after treatment. Incidence and outcome of adverse reactions and recurrence within one year were also compared between the two groups. RESULTS There were no statistically significant differences in baseline indicators between the two groups before surgery （P＞0.05）. After treatment， both groups showed significantly lower VAS scores for chronic pelvic pain， dysmenorrhea and dyspareunia， and significantly reduced serum FSH， LH， E2， IL-4 and IL-10 levels compared to before surgery （P＜0.05）， while serum IFN-γ and IL-2 levels were significantly increased （P＜0.05）； the leuprorelin group showed significantly greater improvements than the mifepristone group in all these indicators （P＜0.05）. After treatment， serum AMH levels in both groups were significantly lower than before surgery levels， while AFC was significantly increased （P＜0.05）； the leuprorelin group had significantly higher serum AMH levels and more AFC compared to the mifepristone group （P＜0.05）. There were no significant differences in the incidence of adverse reactions and outcome rates between the two groups （P＞0.05）. During one year of follow-up after discontinuation， the recurrence rate in the leuprorelin group was significantly lower than in the mifepristone group （1.15% vs. 10.99%， P＜0.05）. CONCLUSIONS Both leuprorelin and mifepristone are effective therapeutic drugs for EMs， but the former has advantages in alleviating pain， regulating serum sex hormone levels， protecting ovarian function， regulating immune function and reducing recurrence rates.

Objective:To explore the structure and function of recombination activating gene 1 (RAG1) related to severe combined immunodeficiency (SCID) before entering the preimplantation genetic testing for monogenic (PGT-M) cycle, and to predict the pathogenicity of its novel mutation sites.Methods:According to the whole exome sequencing reports of the probands in the Department of Reproductive Medicine, the First Affiliated Hospital of Sun Yat-sen University on August 2016, the chromosome karyotypes and Sanger sequencing of their parents from their peripheral blood, the structures and protein conserved domains of the novel mutation sites of RAG1 gene were analyzed by PROVEAN, PolyPhen-2 and Mutation Taster software, and the secondary and tertiary structures of the mutant and wild type RAG1 protein were reconstructed in three-dimensional structure to predict its pathogenicity. Results:The couple were carriers of RAG1 gene mutation, which were located on chromosome 11. The female was heterozygous missense mutation of c.946T>G (p.C316G) and the male was heterozygous integer mutation of c.1194_1196del (p.L399del). The amino acid of the RAG1 mutations mentioned above were highly conserved among human, chimpanzee, pig, cattle, rats and mice. The secondary and tertiary structure reconstruction showed that the RING-type zinc finger structure lost the ability to bind zinc ions due to c.946T>G mutation, and the deletion of leucine at position 399 caused by c.1194_1196del mutation reduced one hydrogen bond. Conclusion:It is speculated that the two novel mutation sites of RAG1 are pathogenic mutations, which expand the mutation spectrum of RAG1 gene and have important research value.

Objective:To explore the structure and function of recombination activating gene 1 (RAG1) related to severe combined immunodeficiency (SCID) before entering the preimplantation genetic testing for monogenic (PGT-M) cycle, and to predict the pathogenicity of its novel mutation sites.Methods:According to the whole exome sequencing reports of the probands in the Department of Reproductive Medicine, the First Affiliated Hospital of Sun Yat-sen University on August 2016, the chromosome karyotypes and Sanger sequencing of their parents from their peripheral blood, the structures and protein conserved domains of the novel mutation sites of RAG1 gene were analyzed by PROVEAN, PolyPhen-2 and Mutation Taster software, and the secondary and tertiary structures of the mutant and wild type RAG1 protein were reconstructed in three-dimensional structure to predict its pathogenicity. Results:The couple were carriers of RAG1 gene mutation, which were located on chromosome 11. The female was heterozygous missense mutation of c.946T>G (p.C316G) and the male was heterozygous integer mutation of c.1194_1196del (p.L399del). The amino acid of the RAG1 mutations mentioned above were highly conserved among human, chimpanzee, pig, cattle, rats and mice. The secondary and tertiary structure reconstruction showed that the RING-type zinc finger structure lost the ability to bind zinc ions due to c.946T>G mutation, and the deletion of leucine at position 399 caused by c.1194_1196del mutation reduced one hydrogen bond. Conclusion:It is speculated that the two novel mutation sites of RAG1 are pathogenic mutations, which expand the mutation spectrum of RAG1 gene and have important research value.

Objective To investigate the dynamic changes and prognosis of thyroid function in the patients with chronic hepatitis C (CHC)after antiviral treatment,and to clarify the influence of baseline factors in the changes of thyroid function.Methods 243 CHC patients with normal baseline thyroid function were enrolled. All patients were treated with IFN-alpha-2b(IFN-α2b)combined with ribavirin for 48 weeks.The thyroid function and serum HCV RNA level were assessed at 12,24,36,48,60 and 72 weeks.According to the changes in thyroid function after treatment,the patients were divided into continued normal,subclinical hypothyroidism,hypothyroidism and hyperthyroidism groups.The regularity of the changes of thyroid function of the patients in various groups were observed.Results Among 243 CHC patients,82(33.7%)patients had thyroid dysfunction.The prevalence of subclinical hypothyroidism,hypothyroidism and hyperthyroidism were 20.9%(51/243),5.3%(13/243)and 7.4%(18/243),respectively. At the end of 72 weeks,there were 32 (39.0%)patients suffering from subclinical hypothyroidism,12 (14.6%) patients with hypothyroidism and 7 (8.5%) patients with hyperthyroidism rehabilitated.6(7.3%)patients suffering from hypothyroidism turned to subclinical hypothyroidism,and 3(3.7%) patients suffering from hyperthyroidism turned to subclinical hypothyroidism.19(23.2%)patients had no significant change,they performed for continued subclinical hypothyroidism (1,1.2%),hypothyroidism (13,15.9%)and hyperthyroidism (5 , 6.1%).In addition, 3 (3.7%)patients with hyperthyroidism turned to hypothyroidism.An increased risk for hypothyroidism was found in female patients compared with males (P<0.05);the average age of the patients with hyperthyroidism was lower than those of the patients with hypothyroidism, subclinical hypothyroidism and continued normal (P<0.05);the baseline levels of GGT in the patients with hyperthyroidism and hypothyroidism were lower than those of the patients with subclinical hypothyroidism and continued normal(P<0.05).The ratio of the patients with HCV 2a to the patients with hypertyroidism was higher than those of the patients with hypothyroidism,subclinical hypothyroidism and continued normal(P<0.05).Conclusion Thyroid function in the CHC patients can be affected by antiviral treatment. Gender, age, liver function, genotype of HCV are influencing factors for the changes of thyroid function.