Tao Chang,Tian Hongjuan,Gu Weizhong,et al.Preliminary study on pathological features of gonadal gland in children with disorders of sex development and its clinical significance: a report of 106 cases[J].Journal of Clinical Pediatric Surgery,,18():206-210.[doi:10.3969/j.issn.1671-6353.2019.03.009]
Preliminary study on pathological features of gonadal gland in children with disorders of sex development and its clinical significance: a report of 106 cases
- Keywords:
- Gonadal Dysgenesis; 46; XY/Embryo; Gonads; Pathology
- CLC:
- R726.9;R691.1;R361+.2
- Abstract:
- Objective To summarize the pathological features and clinical significance of gonads in children with disorders of sex development (DSD).Methods Clinical data of hospitalized DSD children receiving pathological examination of gonads were collected.According to the results of chromosomes,they were divided into three groups of sex chromosome DSD,46,XX DSD and 46,XY DSD.Results A total of 106 DSD children had gonadal pathologic biopsy/resection results.No significant difference existed in EMS scores among three groups.There were 21 cases in sex chromosome DSD group,including ovotestis (n=10,47.6%),original gonads (n=7,33.3%),dysplastic ovary (n=1,4.8%) and dysplastic testis (n=3,14.3%); 25 cases in 46,XX DSD group,including ovotestis (n=11,44%),original gonads (n=3,12%),dysplastic ovary (n=9,36%) and dysplastic testis (n=2,8%); 60 cases in 46,XY DSD group,including ovotestis (n=2,44%),original gonads (n=7,11.7%),dysplastic ovary (n=5,8.3%) and dysplastic testis (n=44,73.3%) and gonadoblastoma (n=2,3.3%).The overall tumor incidence was 1.8%.Conclusion No consistent correspondence exists between EMS,gonadal pathology and chromosomal karyotype in DSD children requiring gonadal examination for doubtful diagnosis.Gonadal pathology remains an important evaluation tool of diagnosing and treating DSD.It is of vital importance for individualized treatment of DSD children.The incidence of gonadal malignancy is minimal.
References:
1 Mouriquand PD, Gorduza DB, Gay CL, et al.Surgery in disorders of sex development (DSD) with a gender issue:If why, when, and how?[J].J Pediatr Urol, 2016, 12(3):139-149.DOI:10.1016/j.jpurol.2016.04.001.
2 Meyer-Bahlburg HF, Baratz Dalke K, Berenbaum SA, et al.Gender assignment, reassignment and outcome in disorders of sex development:Update of the 2005 Consensus Conference[J].Horm Res Paediatr, 2016, 85(2):112-118.DOI:10.1159/000441386.
3 唐达星, 付君芬.性别发育异常的新认识及外科选择[J].中华小儿外科杂志, 2016, 37(7):481-484.DOI:10.3760/cma.j.issn.0253-3006.2016.07.001. Tang DX, Fu JF.New concepts and surgical options of sex development disorder[J].Chinese Journal of Pediatric Surgery, 2016, 37(7):481-484.DOI:10.3760/cma.j.issn.0253-3006.2016.07.001.
4 郭盛, 李嫔.性发育异常儿童抚养性别再认识[J].中华实用儿科临床杂志, 2017, 32(20):1526-1529.DOI:10, 60/cma.j.issn.2095-428X.2017.20.002. Guo S, Li B.Recognition of rearing sex in children with disorders of sex development[J].Chinese Journal of Applied Clinical Pediatrics, 2017, 32(20):1526-1529.DOI:10, 60/cma.j.issn.2095-428X.2017.20.002.
5 Barseghyan H, Délot, E, Vilain E.New Genomic Technologies:An Aid for Diagnosis of Disorders of Sex Development[J].Hormone and Metabolic Research, 2015, 47(5):312-320.DOI:10.1055/s-0035-1548831.
6 Houk CP, Lee PA.Intersexed states:diagnosis and management[J].Endocrinol Metab Clin North Am, 2005, 34(3):791-810.DOI:10.1016/j.ecl.2005.04.014.
7 Witchel SF.Disorders of sex development[J].Best Pract Res Clin Obstet Gynaecol, 2018, 48(1):90-102.DOI:10.1016/j.bpobgyn.2017.11.005.
8 Fisher AD, Ristori J, Fanni E, et al.Gender identity, gender assignment and reassignment in individuals with disorders of sex development:a major of dilemma[J].J Endocrinol Invest, 2016, 39(11):1207-1224.DOI:10.1007/s40618-016-0482-0.
9 Hatzimouratidis K, Eardley I, Giuliano F, et al.EAU guidelines on penile curvature[J].Eur Urol, 2012, 62(3):543-552.DOI:10.1016/j.eururo.2012.05.040.
10 Larson A, Nokoff NJ, Travers S.Disorders of sex development:clinically relevant genes involved in gonadal differentiation[J].Discovery Medicine, 2012, 14(78):301-309.DOI:10.2310/7290.2012.00022.
11 Krob G, Braun A, Kuhnle U.True hermaphroditism:Geographical distribution, clinical findings, chromosomes and gonadal histology[J].European Journal of Pediatrics, 1994, 153(1):2-10.DOI:10.1007/BF02000779.
12 Hewitt J, Zacharin M.Hormone replacement in disorders of sex development:Current thinking[J].Best Pract Res Clin Endocrinol Metab, 2015, 29(3):437-447.DOI:10.1016/j.beem.2015.03.002.
13 Bush N, Villanueva C, Snodgrass W.Glans size is an independent risk factor for urethroplasty complications after hypospadias repair[J].J Pediatr Urol, 2015, 11(6):355.e1-5.DOI:10.1016/j.jpurol.2015.05.029.
14 Sajjad Y.Development of the genital ducts and external genitalia in the early human embryo[J].J Obstet Gynaecol Res, 2010, 36(5):929-937.DOI:10.1111/j.1447-0756.2010.01272.x.
15 Deans R, Creighton SM, Liao LM, et al.Timing of gonadectomy in adult women with complete androgen insensitivity syndrome:patient preferences and clinical evidence[J].Clin Endocrinol (Oxf), 2012, 76(6):894-898.DOI:10.1111/j.1365-2265.2012.04330.x.
16 Elzinga-Tinke JE, Sirre ME, Looijenga LH, et al.The predictive value of testicular ultrasound abnormalities for carcinoma in situ of the testis in men at risk for testicular cancer[J].Int J Androl, 2010, 33(4):597-603.DOI:10.1111/j.1365-2605.2009.00997.x.
17 Cools M, Stoop H, Kersemaekers AM, et al.Gonadoblastoma arising in undifferentiated gonadal tissue within dysgenetic gonads[J].J Clin Endocrinol Metab, 2006, 91(6):2404-2413.DOI:10.1210/jc.2005-2554.
18 Lifshitz F.Pediatric endocrinology[M].Pediatric endocrinology.2003.
19 Finlayson C, Fritsch MK, Johnson EK, et al.Presence of germ cells in disorders of sex development:implications for fertility potential and preservation[J].J Urol, 2017, 197(3):937-943.DOI:10.1016/j.juro.2016.08.108.
20 梁海燕, 张潍平, 孙宁, 等.74例46, XX性发育异常患儿性腺探查结果及分析[J].中华小儿外科杂志, 2016, 37(7):517-521.DOI:10.3760/cma.j.issn.0253-3006.2016.07.008. Liang HY, Zhang WP, Sun N, et al.Results and analysis of exploring gonads of children with 46, XX DSD:a report of 74 cases[J].Chinese Journal of Pediatric Surgery, 2016, 37(7):517-521.DOI:10.3760/cma.j.issn.0253-3006.2016.07.008.
Memo
收稿日期:2018-10-25。
基金项目:国家重点研发计划（编号：2018YFC1002700）
通讯作者:唐达星,Email:tangdx0206@zju.edu.cn