Yang Yi,Yin Xiaoming.Gonadal management in 46,XY disorders of sexual development[J].Journal of Clinical Pediatric Surgery,2019,18(03):167-171.[doi:10.3969/j.issn.1671-6353.2019.03.002]
46,XY性别发育异常的性腺处理
- Title:
- Gonadal management in 46,XY disorders of sexual development
- Keywords:
- Gonadal Dysgenesis; 46; XY/Embryo; Gender Identity
- 分类号:
- R726.9;R691.1
- 摘要:
- 性分化异常是指先天性染色体、性腺和表型性别的发育异常或不匹配。根据芝加哥会议分型，46，XY DSD是病因最复杂的一类性分化异常。目前46，XY DSD患者的性腺处理仍存在一定争议。本文通过文献复习结合笔者临床经验，从性腺活检及探查、性腺恶变风险、性腺随访策略、性腺切除时机及指征等方面讨论46，XY DSD的性腺处理。
- Abstract:
- Disorders of sex development (DSD) are a generic definition including any problem noted at birth where the genitalia are atypical in relation to chromosomes or gonads.According to the DSD classification of Chicago Conference,46,XY DSD is the most complex disorder of sexual development.Until now,optimal protocol has remained controversial in the gonad management of 46,XY DSD.Based upon a literature review and personal clinical experiences,gonadal management in 46,XY DSD was addressed from the aspects of gonadal biopsy and exploration,gonadal malignancy risks,follow-up strategies,timing and indication of gonadectomy.
参考文献/References:
1 Lee PA, Houk CP, Ahmed SF, et al.Consensus statement on management of intersex disorders[J].Pediatrics, 2006, 118(2):488-500.DOI:10.1542/peds.2006-0738.
2 Rink RC.Surgical management of disorders of sex development and cloacal and anorectal malformations[M].Campbell-Walsh Urology (11th Edition), 2015, 31(10):3498-3520.
3 Bertelloni S, Russo G, Baroncelli GI.Human chorionic gonadotropin test:old uncertainties, new perspectives and value in 46, XY disorders of sex development[J].Sex Dev, 2018, 12(1-3):41-49.DOI:10.1159/000481552.
4 Demirel F, Kara O, Tepe D, et al.Bone mineral density and vitamin D status in children and adolescents with congenital adrenal hyperplasia[J].Turkish Journal of Medical Sciences, 2014, 44(1):109.DOI:10.3906/sag-1301-114.
5 Dumic M, Jukic S, Batinica S, et al.Bilateral gonadoblastoma in a 9-month-old infant with 46, XY gonadal dysgenesis[J].J Endocrinol Invest, 1993, 16(4):291-293.DOI:10.1007/BF03348838.
6 Fallat ME, Donahoe PK.Intersex genetic anomalies with malignant potential[J].Curr Opin Pediatr, 2006, 18(3):305-311.DOI:10.1097/01.mop.0000193316.60580.d7.
7 Michala L, Goswami D, Creighton SM, et al.Swyer syndrome:presentation and outcomes[J].BJOG, 2008, 115(6):737-741.DOI:10.1111/j.1471-0528.2008.01703.x.
8 Pleskacova J, Hersmus R, Oosterhuis JW, et al.Tumor risk in disorders of sex development[J].Sex Dev, 2010, 4(4-5):259-269.DOI:10.1159/000314536.
9 MacLaughlin DT, Donahoe PK.Sex determination and differentiation[J].N Engl J Med, 2004, 350(4):367-378.DOI:10.1056/NEJMra022784.
10 Patel PR, Pappas J, Arva NC, et al.Early presentation of bilateral gonadoblastomas in a Denys-Drash syndrome patient:a cautionary tale for prophylactic gonadectomy[J].J Pediatr Endocrinol Metab, 2013, 26(9-10):971-974.DOI:10.1515/jpem-2012-0409.
11 Olsen MM, Caldamone AA, Jackson CL, et al.Gonadoblastoma in infancy:indications for early gonadectomy in 46XY gonadal dysgenesis[J].J Pediatr Surg, 1988, 23(3):270-271.
12 Wunsch L, Holterhus PM, Wessel L, et al.Patients with disorders of sex development at risk of gonadal tumour development:management based on laparoscopic biopsy and molecular diagnosis[J].BJU Int, 2012, 110(11):E958-965.DOI:10.1111/j.1464-410X.2012.11181.x.
13 Scully RE.Gonadoblastoma:a gonadal tumor related to the dysgerminoma (seminoma) and capable of sex-hormone production[J].Cancer, 1953, 6(3):455-463.
14 Cools M, Looijenga LH, Wolffenbuttel KP, et al.Managing the risk of germ cell tumourigenesis in disorders of sex development patients[J].Endocr Dev, 2014, 27(2):185-196.DOI:10.1159/000363642.
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 Cools M, Drop SL, Wolffenbuttel KP, et al.Germ cell tumors in the intersex gonad:old paths, new directions and moving frontiers[J].Endocr Rev, 2006, 27(5):468-484.DOI:10.1210/er.2006-0005.
17 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.
18 Kim W, Rosen MA, Langer JE, et al.US MR imaging correlation in pathologic conditions of the scrotum[J].Radiographics, 2007, 27(5):1239-1253.DOI:10.1148/rg.275065172.
19 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.
20 Cools M, van Aerde K, Kersemaekers AM, et al.Morphological and immunohistochemical differences between gonadal maturation delay and early germ cell neoplasia in patients with undervirilization syndromes[J].J Clin Endocrinol Metab, 2005, 90(9):5295-5303.DOI:10.1210/jc.2005-0139.
21 Gulía C, Baldassarra S, Zangari A, et al.Androgen insensitivity syndrome[J].Eur Rev Med Pharmacol Sci, 2018, 22(12):3873-3887.DOI:10.26355/eurrev_201806_15272.
22 Carillo AA, Damian M, Berkovitz G.Disorders of sexual differantiation.In:Lifshitz F, editor.Pediatric endocrinology[M].New York:Informa Healthcare, 2013:365-390.
23 Döhnert U, Wünsch L, Hiort O.Gonadectomy in Complete Androgen Insensitivity Syndrome:Why and When?[J].Sex Dev, 2017, 11(4):171-174.DOI:10.1159/000478082.
24 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.
25 Schaeffer AJ, Diamond DA.Pediatric urinary incontinence:Classification, evaluation, and management[J].African Journal of Urology, 2014, 20(1):1-13.DOI:10.1016/j.afju.2013.10.001.
26 Meyer-Bahlburg HF.Gender monitoring and gender reassignment of children and adolescents with a somatic disorder of sex development[J].Child Adolesc Psychiatr Clin N Am, 2011, 20(4):639-649.DOI:10.1016/j.chc.2011.07.002.
27 Mazur T.Gender dysphoria and gender change in androgen insensitivity or micropenis[J].Arch Sex Behav, 2005, 34(4):411-421.DOI:10.1007/s10508-005-4341-x.
相似文献/References:
[1]温煦,张潍平.5α-还原酶2型缺乏症的诊治及预后研究进展[J].临床小儿外科杂志,2022,21(01):84.[doi:10.3760/cma.j.cn.101785-202005008-016]
Wen Xu,Zhang Weiping.Research advances in the diagnosis and prognosis of 5α-reductase type 2 deficiency[J].Journal of Clinical Pediatric Surgery,2022,21(03):84.[doi:10.3760/cma.j.cn.101785-202005008-016]
[2]唐达星.46,XY性别发育基本过程相关异常的发生及处理建议[J].临床小儿外科杂志,2019,18(03):161.[doi:10.3969/j.issn.1671-6353.2019.03.001]
Tang Daxing.The occurrence of initial process of 46,XY sex abnormal development and the corresponding management suggestions[J].Journal of Clinical Pediatric Surgery,2019,18(03):161.[doi:10.3969/j.issn.1671-6353.2019.03.001]
[3]李雪艳,殷晓鸣,刘鑫,等.41例46,XY性别发育异常临床诊治及基因筛查结果分析[J].临床小儿外科杂志,2019,18(03):184.[doi:10.3969/j.issn.1671-6353.2019.03.005]
Li Xueyan,Yin Xiaoming,Liu Xin,et al.Clinical analysis and genetic screening of 41 children with 46,XY DSD[J].Journal of Clinical Pediatric Surgery,2019,18(03):184.[doi:10.3969/j.issn.1671-6353.2019.03.005]
[4]吴鼎文,吴德华,郑静,等.46,XY性发育异常与单基因变异的相关性研究[J].临床小儿外科杂志,2019,18(03):191.[doi:10.3969/j.issn.1671-6353.2019.03.006]
Wu Dingwen,Wu Dehua,Zheng Jing,et al.Correlations between phenotype and monogenic mutation of 46,XY sexual development disorder[J].Journal of Clinical Pediatric Surgery,2019,18(03):191.[doi:10.3969/j.issn.1671-6353.2019.03.006]
[5]毛宇,夏梦,蔡永川,等.46,XY严重男性化不全外阴的男性化整形方式探讨[J].临床小儿外科杂志,2019,18(03):196.[doi:10.3969/j.issn.1671-6353.2019.03.007]
Mao Yu,Xia Meng,Cai Yongchuan,et al.Masculinizing plasty in 46,XY severely undervirilized genital[J].Journal of Clinical Pediatric Surgery,2019,18(03):196.[doi:10.3969/j.issn.1671-6353.2019.03.007]
[6]陈光杰,田红娟,吴德华,等.雄性化评分系统在46,XY性别发育异常儿童性别分配中的作用探讨[J].临床小儿外科杂志,2019,18(03):202.[doi:10.3969/j.issn.1671-6353.2019.03.008]
Chen Guangjie,Tian Hongjuan,Wu Dehua,et al.Role of masculinization score in the assessment of 46,XY disorders of sex development[J].Journal of Clinical Pediatric Surgery,2019,18(03):202.[doi:10.3969/j.issn.1671-6353.2019.03.008]
[7]陶畅,田红娟,顾伟忠,等.106例性别发育异常患儿性腺病理学特征及其临床意义的初步探讨[J].临床小儿外科杂志,2019,18(03):206.[doi:10.3969/j.issn.1671-6353.2019.03.009]
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,2019,18(03):206.[doi:10.3969/j.issn.1671-6353.2019.03.009]
备注/Memo
收稿日期:2018-11-27。
基金项目:国家自然基金面上项目（编号：81571514）
通讯作者:杨屹,Email:yangy2@sj-hospital.org