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45,X特纳综合征合并SRY基因的混合性性腺发育不全

Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene.

作者信息

Jung Jae Yeop, Yang Sohyoung, Jeong Eun-Hwan, Lee Ho-Chang, Lee Yong-Moon, Han Heon-Seok, Yi Kyung Hee

机构信息

Department of Pediatrics, Chungbuk National University College of Medicine, Cheongju, Korea.

Department of Obstetrics & Gynecology, Chungbuk National University College of Medicine, Cheongju, Korea.

出版信息

Ann Pediatr Endocrinol Metab. 2015 Dec;20(4):226-9. doi: 10.6065/apem.2015.20.4.226. Epub 2015 Dec 31.

DOI:10.6065/apem.2015.20.4.226
PMID:26817010
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4722163/
Abstract

Turner syndrome is the most common chromosomal disorder in girls. Various phenotypic features show depending upon karyotype from normal female through ambiguous genitalia to male. Usually, Turner girls containing 45,X/46,XY mosaicism, or sex-determining region Y (SRY) gene may have mixed gonadal dysgenesis with various external sexual differentiation. We experienced a short statured 45,X Turner girl with normal external genitalia. Because SRY gene was positive, laparoscopic gonadectomy was performed. The dysgenetic gonads revealed bilateral ovotesticular tissues. The authors report a mixed gonadal dysgenesis case found in clinical 45,X Turner patient with positive SRY gene. Screening for SRY gene should be done even the karyotype is 45,X monosomy and external genitalia is normal.

摘要

特纳综合征是女孩中最常见的染色体疾病。根据核型的不同，会表现出各种不同的表型特征，从正常女性到生殖器模糊再到男性。通常，含有45,X/46,XY嵌合体或性别决定区域Y（SRY）基因的特纳女孩可能会出现混合性性腺发育不全，并伴有各种外生殖器分化异常。我们遇到了一名身材矮小的45,X特纳女孩，其外生殖器正常。由于SRY基因呈阳性，因此进行了腹腔镜性腺切除术。发育不全的性腺显示双侧卵睾组织。作者报告了一例在临床45,X特纳患者中发现的SRY基因阳性的混合性性腺发育不全病例。即使核型为45,X单体且外生殖器正常，也应进行SRY基因筛查。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a804/4722163/b1c96a4bdcc5/apem-20-226-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a804/4722163/3bac0e82dadb/apem-20-226-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a804/4722163/7e43b594a85d/apem-20-226-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a804/4722163/96ff8740a3b3/apem-20-226-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a804/4722163/b1c96a4bdcc5/apem-20-226-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a804/4722163/3bac0e82dadb/apem-20-226-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a804/4722163/7e43b594a85d/apem-20-226-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a804/4722163/96ff8740a3b3/apem-20-226-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a804/4722163/b1c96a4bdcc5/apem-20-226-g004.jpg

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引用本文的文献

1
Gonadal dysgenesis in Turner syndrome with Y-chromosome mosaicism: Two case reports.特纳综合征合并Y染色体嵌合体的性腺发育不全：两例报告。
World J Clin Cases. 2020 Nov 26;8(22):5737-5743. doi: 10.12998/wjcc.v8.i22.5737.
2
Retraction: Mixed gonadal dysgenesis in 45,X Turner syndrome with gene.撤回：45,X特纳综合征合并基因的混合性性腺发育不全。
Ann Pediatr Endocrinol Metab. 2016 Sep;21(3):179. doi: 10.6065/apem.2016.21.3.179. Epub 2016 Sep 30.

本文引用的文献

1
Gonadoblastoma in patients with Ullrich-Turner syndrome.患有乌尔里希-特纳综合征患者的性腺母细胞瘤。
Pediatr Dev Pathol. 2015 Mar-Apr;18(2):117-21. doi: 10.2350/14-08-1539-OA.1. Epub 2014 Dec 23.
2
Y chromosome in Turner syndrome: review of the literature.特纳综合征中的Y染色体：文献综述
Sao Paulo Med J. 2009 Nov;127(6):373-8. doi: 10.1590/s1516-31802009000600010.
3
SRY gene increases the risk of developing gonadoblastoma and/or nontumoral gonadal lesions in Turner syndrome.SRY基因会增加特纳综合征患者发生性腺母细胞瘤和/或非肿瘤性性腺病变的风险。
Int J Gynecol Pathol. 2009 Mar;28(2):197-202. doi: 10.1097/PGP.0b013e318186a825.
4
Clinical implications of the detection of Y-chromosome mosaicism in Turner's syndrome: report of 3 cases.特纳综合征中Y染色体嵌合体检测的临床意义：3例报告
Fertil Steril. 2008 Oct;90(4):1197.e17-20. doi: 10.1016/j.fertnstert.2007.09.014. Epub 2008 Mar 4.
5
Gonadoblastoma in Turner syndrome patients with nonmosaic 45,X karyotype and Y chromosome sequences.具有非嵌合型45,X核型和Y染色体序列的特纳综合征患者中的性腺母细胞瘤。
Cancer Genet Cytogenet. 2004 Apr 1;150(1):70-2. doi: 10.1016/j.cancergencyto.2003.08.011.
6
Y Chromosomal Sequences Identified in Gonadal Tissue of Two 45,X Patients with Turner Syndrome.在两名患有特纳综合征的45,X患者的性腺组织中鉴定出的Y染色体序列。
Endocr Pathol. 1995 Winter;6(4):311-322. doi: 10.1007/BF02738731.
7
Molecular analysis of SRY gene in patients with mixed gonadal dysgenesis.混合型性腺发育不全患者SRY基因的分子分析
Ann Genet. 2001 Jul-Sep;44(3):155-9. doi: 10.1016/s0003-3995(01)01081-4.
8
Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study.特纳综合征女性伴Y染色体物质时性腺母细胞瘤的发生情况：一项群体研究
J Clin Endocrinol Metab. 2000 Sep;85(9):3199-202. doi: 10.1210/jcem.85.9.6800.
9
A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism.特纳综合征和Y染色体嵌合体患者中SRY基因5'非高迁移率族框区域的突变。
J Clin Endocrinol Metab. 2000 May;85(5):1908-11. doi: 10.1210/jcem.85.5.6609.
10
[Genes of the Y chromosome and Turner syndrome].
Ann Endocrinol (Paris). 1994;54(5):323-9.