Analysis Of Clinical Characteristics Of Children With Disorders Of Sex Development

Objective:Disorders of sex development(DSD)is a rare kind of congenital diseases involving physiological,psychological,social and other factors.It has complex etiology,various types and large clinical manifestations,and is difficult to be diagnosed by conventional methods.Therefore,multiple disciplinary team intervention is required.In this study,clinical characteristics of a group of large sample DSD cases were reviewed to further improve the evaluation and treatment level of DSD.Methods:In this study,to collected the clinical data of 147 cases of children with DSD,which was received and cured by the department of pediatric urology,the children's hospital of Zhejiang University School of Medicine,from January 1,2010 to December 30,2017,including history,physical examination(genitals preliminary assessment with Prader scoring method,further evaluation by EMS score),imaging examination(sex gland,adrenal gland and pelvic tube),laparoscopic exploration and pathological examination(such as the gonads biopsy),biochemical endocrine examination,genetic diagnosis,gender distribution,surgical choice and satisfaction follow-up were retrospectively summarized analysis.Results:(1)General items:the patients were aged from 12 days to 18 years old,and the median age was 2 years and 8 months.The main complaints were genital fuzzy 106/147(72%),testicular sample was found in the inguinal hernia sac of girls 13/147(9%),adolescent hypoplasia or delayed development 13/147(8%).(2)Combined malformation:6 cases of cardiac malformation,4 cases of urinary malformation,1 case of polydactyly,1 case of nephroblastoma.(3)Physical examination:the external genital organs evaluate by Prader score,level ? 16 cases,? 72 cases,? 34 cases,? 20 cases,V 5 cases.EMS score was the lowest 0 points,the highest 10.5 points and the median 2 points.(4)Imaging examination:a total of 133 cases have pelvic and inguinal ultrasound examination report,gonadal ultrasound detection rate of 102/133(76.7%),including 57 cases of bilateral testicular exploration,6 cases of unilateral testicular exploration,testicular ectopic 1 case,33 cases of bilateral ovarian exploration,2 cases of unilateral ovarian exploration,3 cases of ovotestis exploration.MRI examination of adrenal gland in 1 case showed obvious adrenal enlargement.(5)Pathological diagnosis:117 cases of gonads was diagnosed by pathological,64 cases of bilateral testicles,13 cases of bilateral ovaries,25 cases of mixed gonads,1 case of bilateral gonad atrophy,3 cases of unilateral gonad atrophy(on the other side of gonad is 1 case of the testis and 2 cases of the ovaries).We found 4 cases of Mullerian canal tissue and 3 cases of gonadal tumors(2 cases of gonadoblastoma and 1 case of asexual cell tumor).(6)Biochemical endocrine examination:The proportion of abnormal results of endocrine hormone indicators,estradiol 36/147(24.5%),testosterone 9/147(6.12%),FSH 16/147(10.9%),LH 17/147(11.6%),ACTH 14/97(14.4%),17a-hydroxyprogen 9/101(8.4%),AMH9/42(21.4%)and inhibin B 3/21(14.3%),The detection rate of total abnormal data was 113/849(13.3%).The results showed that only 1/6 of the endocrine hormone data were abnormal.(7)Genetic testing:147 cases of chromosome karyotype for 38 cases 46,XX,84 cases 46,XY,25 cases of sexual chromosome abnormalities;125 patients underwent SYR gene screening,92 were positive and 33 were negative.Gene sequencing was performed in 29 cases.(8)Diagnostic clinical typing:According to the Chicago consensus of DSD clinical typing,the proportion of cases in this study group can be classified clinically:46,XX DSD 31/38(82%),46,XY DSD 32/84(38%)and sex chromosome abnormality DSD 25/25(100%).According to the statistical results,Of the 46,XY DSD in this study group,52/84(62%)failed to identify the etiology.(9)Gender distribution:statistics of social dependency gender of patients before treatment:female 81 cases,male 53 cases and unknown 13 cases.After the evaluation of gender distribution,the original 5 cases of male to female;Four women became men.Of the 13 children with unknown gender,4 were male and 9 were female.(10)Surgical intervention:there were 121 cases of laparoscopic surgery and 75 cases of cystoscopy.There were 40 cases of hypospadias and 23 cases of vulvar plastic surgery(clitoris shortening,urethral and vaginal reconstruction),among which 1 case was first operated on as a male,and then changed to a female operation due to parental requirements.(11)follow-up results:telephone follow-up was selected as the follow-up method,and 89 people were followed up by telephone.The rest were lost to follow-up by telephone,with the loss rate of 39.5%.In the follow-up results,none of the children in the early stage of adolescence showed any confusion about gender.Perineum scar after vulvar plastic surgery,urethral stricture after hypospadias repair and poor penile appearance were the main reasons for the low satisfaction with surgery,and none of the children in the follow-up cases had any dysnoesia.Conclusion:DSD children from history,medical reasons,appearance of internal and external genitalia,endocrine hormone levels,gonad histological manifestations and surgical treatment for all present a complex diversity characteristics,such as Genital vague is the most common cause of consultation,most of them are of low rank(mainly female orientation),gonad and Mullerian duct exploration,Laparoscopy is superior to ultrasonography(easy to miss diagnosis),directly show the endocrine abnormalities is relatively rare,a lower incidence of sex gland tumor,and just found in enter puberty,the most common karyotype was 46,XY.Therefore,DSD really needs the cooperation of pediatric endocrinology,pediatric urology,genetics,imaging and pathology to accurately evaluate and formulate individualized treatment programs.