Analysis Of Diagnosis And Treatment For Chinese Patients With Disorder Of Sexual Development And Evaluating Their Quality Of Life Using The WHOQOL-Bref

Objective1.To analysis the clinical characteristics of 46,XY disorder of sexual development(46,XY DSD)and to improve the diagnosis and treatment of this disease.2.Disorders of sex development(DSD)are rare genetic conditions resulting in atypical development of the sex organs.Few studies have focused on the quality of life(Qo L)in this population.The purpose of this study was to evaluate the Qo L in DSD patients in Chinese population.Materials and Methods1.The clinical data of 44 cases with 46,XY DSD from September 1982 to February2014 were retrospectively analyzed.Among the 44 cases,13 were socially female sex and 31 were male sex.The mean age was(18.0±7.7)(range 1 to 28)years.The 46,XY DSD was confirmed by medical history,physical examination,karyotype analysis,endocrine examination,imaging examination,endoscopic examination and pathological examination.Firstly,the gender was identified and selected.And then,the patients were given surgical treatment,drug therapy and psychological support.The surgical procedures included excision of the contradictory gonads and plasty of external genitalia in male or female.2.A total of 37 consecutive patients with DSD were included in our study from October2005 to January 2014.The classification of DSD included 46,XY DSD(n=26)and 46,XX DSD(n=11).The WHOQOL-Bref questionnaire was used to evaluate the Qo L of all patients.Results1.Diagnosis: genetic examination showed that the sex chromosome karyotypes of all cases were 46,XY.According to the clinical manifestations,the classifications included small penis,hypospadias,inguinal mass,gynecomastia,breast undeveloped,no menstrual cramps,etc.Treatment: alone or in combination with drug therapy and surgery were used for the treatment of 46,XY DSD.Pharmaceutical drugs included testosterone,human chorionic gonadotropin,growth hormone,glucocorticoids,etc.Operation methods included resection of cryptorchidism,testicular fixation,hypospadias repair,resection of inguinal tumor,etc.2.All patients with 46,XX DSD and 46,XY DSD had similar Qo L scores on the WHOQOL-Bref.Patients with male social sex had better scores on the psychological domain,while patients with female social sex had better scores on the physical domain.Among the 46,XY DSD patients,the male social sex patients had better scores on the psychological domain,while female social sex patients had better scores on the physical domain.Among the 46,XX patients,the female social sex patients had higher scores on the general questions and in physical and psychological domains than the male social sex patients.Conclusions1.Early diagnosis and treatment are significant to the therapeutic effects and the life quality of the patients.The etiological classifications are needed.The surgical treatment is preferred,and emphasis should be placed on both of the gender selection and the gonads processing postoperatively.The sex selection should be based on the multiple factors of patient's own situation,the will of the family,ambient environment of the patient,and the doctor's skill.It is suggested that operation of maintaining female sex can be preferred as treatment of choice for 46,XY DSD.Also,appropriate hormone replacement is indispensable after the operation.2.To the 46,XX patients,the female social sex is a better choice.To the 46,XY patients,the choice of sex need to be considered the multiple aspects of the patients themselves,their families,and environment,etc.