Analysis of clinical phenotype and genotype of Chinese children with disorders of sex development / 中华儿科杂志

Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.

Efficacy of Loulu Shengma Tang Combined with Azithromycin in Treating Children with Mycoplasma Pneumonia with Obstruction of Lung by Pathogenic Heat and Its Effect on Treg and Foxp3 mRNA / 中国实验方剂学杂志

Objective:To investigate the clinical efficacy of Loulu Shengma Tang combined with azithromycin in the treatment of pediatric mycoplasma pneumoniae pneumonia（MPP） with obstruction of lung by pathogenic heat， and its effect on inflammatory factors， treg and Foxp3 mRNA. Method:Totally 274 children with MPP were divided into observation group （137 cases） and control group （137 cases）. Observation group was treated with Loulu Shengma Tang combined with azithromycin dry suspension， while control group was treated with azithromycin dry suspension alone. The changes of traditional Chinese medicine（TCM） syndrome score of pathogenic-heat obstruction in the lung， serum inflammatory cytokines ［interleukin-6 （IL-6），interleukin-10 （IL-10），tumor necrosis factor-α （TNF-α），C-reactive protein （CRP）］， CD4+CD25+Treg， CD4+Foxp3+Treg and Foxp3 mRNA expressions were observed after treatment. The clinical efficacy and the incidence of adverse reactions were compared between two groups. Result:The total effective rate of observation group was 94.16%（129/137） after treatment， which was significantly higher than 77.37% （106/137）of observation group （P<0.05）. The disappearance times of cough， lung rale， fever and lung shadow in observation group were shorter than that in control group （P<0.05）. After treatment， TCM syndrome score of pathogenic-heat obstruction in lung was significantly higher than those in control group （P<0.05）， serum IL-6， IL-10， TNF-α and CRP levels in observation group were significantly lower than those in control group （P<0.05， P<0.01）， while CD4+CD25+Treg， CD4+Foxp3+Treg and Foxp3 mRNA expressions were significantly higher than those in control group （P<0.05）. The incidence of adverse reactions in observation group was 7/137 （5.11%）， which was significantly lower than 16/137 （11.68%） in control group. Conclusion:The clinical efficacy of Loulu Shengma Tang combined with azithromycin dry suspension in the treatment of pediatric MPP and its effect on serum inflammatory factors （IL-6， IL-10， TNF-α， CRP）， regulatory T cells and Foxp3 mRNA expressions were better than those of azithromycin dry suspension alone. The incidence of adverse reactions of Loulu Shengma Tang was lower than that of azithromycin dry suspension alone.