Objective To explore the clinical manifestations and molecular features of 46,XX male syndrome.Method The clinical and molecular data of five 46,XX male syndrome cases treated in the Department of Pediatrics of Shanghai Ruijin Hospital form August 2010 to August 2014 were retrospectively analyzed.Result The five patients were all sociopsychologically males and came to hospital respectively for short stature,ambiguous genitalia or gynecomastia.They were all below the normal male’s average height,and their karyotype was all 46,XX.One case in five was verified as sex determining region of Y chromosome (SRY gene) positive revealed no abnormality in their external genitalia.He had short stature since childhood,whose SRY gene fragments were shown by FISH transferred to the ends of X chromosome.Three cases in four were SRY gene negative with ambiguous genitalia of cryptorchidism and testicular dysplasia to different degrees.The copy number variations of SOX9 gene was found in one case,the loss of heterozygosity area in DHH gene of one case.Another SRY gene negative patient who had normal male external genitalia,came to the hospital due to puberty gynecomastia,that of SOX9 gene and its upstream gene both increased.Conclusion The main clinical characteristics of 46,XX male syndrome are male phenotype,46,XX karyotype,gonad of testis or ovotestis and no uterus.In addition,short stature,ambiguous genitalia or gynecomastia can be one reason for hospital visits.SRY gene translocation,SOX9 gene and its upstream gene copy number increase all can lead to 46,XX male syndrome.The cause of some may play an important role in 46,XX male syndrome,but has not yet been determined.

Traditional Chinese medicine(TCM)plays a unique role in preventive treatment of disease,treatment of chronic disease and recovery.Integrating modern science and technology and methods to carry out integrated and innovative research will help to bring the value of traditional Chinese medicine into full play.In recent years,with the rapid development of digital therapeutics such as artificial intelligence and wearable devices,digital therapeutics have emerged.Under the guidance of TCM theory,TCM integrates digital therapeutics technology methods,personalized treatment of patients through advanced program-driven software or combined with hardware devices,and improves patient compliance,gives full play to the advantages of TCM.This paper uses CiteSpace to visualize the research hotspots of digital therapeutics,combined with the literature and the website data of the Food and Drug Administration and the National Medical Products Administration,to sort out the application of digital therapeutics in the prevention,treatment and recovery of diseases,analyze the key technologies and core theories in the current application of digital therapeutics.And taking TCM pentatotherapy,kinesiatrics and aromatherapy as examples,this paper discusses the application forms of digital therapeutics under the guidance of TCM theory,and provides a preliminary paradigm for TCM digital therapeutics.

In order to standardize the clinical diagnosis and treatment of upper airway cough syndrome (UACS) for children in China, Dongzhimen Hospital of Beijing University of Chinese Medicine and Affiliated Hospital of Liaoning University of Traditional Chinese Medicine initiated the development of this Traditional Chinese Medicine Diagnosis and Treatment Guidelines for Children with Upper Airway cough Syndrome based on evidence-based medical evidence. This guideline will process registration, write a plan, and develop relevant processes and writing norms, develop and publish official documents. This plan mainly introduces the scope of the guidelines, the purpose and significance, the composition of the guidelines working group, the management of conflicts of interest, the collection, selection and determination of clinical problems, the retrieval, screening and rating of evidence, and the consensus of recommendations. Registration information: This study has been registered in the international practice guidelines registry platform with the registration code of PREPARE-2023CN087.