Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies.
Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies.
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DOI：
10.1016/j.jpurol.2011.12.012
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发表时间：
2013-04
影响因子：
2
通讯作者：
Mushtaq, I.
中科院分区：
文献类型：
--
作者：
Farrugia, M. K.;Sebire, N. J.;Achermann, J. C.;Eisawi, A.;Duffy, P. G.;Mushtaq, I.
关键词：
45，X/46，XY和45，X/47，XYY组患者包括一些先前诊断为“混合性性腺发育不全”的患者。我们的目的是建立临床和性腺谱，早期手术治疗，染色体嵌合体患者提出生殖器异常。我们对1988年至2009年期间45，X/46，XY或45，X/47，XYY嵌合体伴生殖器模糊的患者进行了回顾性分析。每例患者至少有一个性腺活检或性腺切除标本。由儿科病理学家重新评价性腺组织学。31例45，X/46，XY（n = 28）或45，X/47，XYY（n = 3）镶嵌和生殖器异常患者中，19例（61%）为男性。46个性腺的组织学检查来自于接受性腺切除术或性腺活检的患者，中位年龄为9.5个月。18个性腺在就诊时可触及，包括5个（28%）组织学上不明显的睾丸，2个条纹性腺，1个发育不良的性腺，睾丸和卵巢基质的区域明显，但没有卵母细胞。发现所有腹内性腺均为发育不良的睾丸（其中2个观察到有癌前病变）或条纹，除了1个组织学上不显著的睾丸外。15例（48%）患者有其他异常，最常见的是心脏和肾脏; 4例（13%）有Turner表型。45，X/46，XY和45，X/47，XYY生殖器模糊个体的解剖学和性腺组织学不符合设定模式，因此应根据详细的解剖学和组织学评估对每位患者进行个性化管理。
The 45,X/46,XY and 45,X/47,XYY group of patients includes some of those previously diagnosed with ‘mixed gonadal dysgenesis’. Our aim was to establish the clinical and gonadal spectrum, and early surgical management, of patients with chromosomal mosaicism presenting with genital anomalies. We performed a retrospective review of patients with 45,X/46,XY or 45,X/47,XYY mosaicism presenting with genital ambiguity between 1988 and 2009. At least one gonadal biopsy or gonadectomy specimen was available for each patient. Gonadal histology was re-evaluated by a paediatric pathologist. Of 31 patients with 45,X/46,XY (n = 28) or 45,X/47,XYY (n = 3) mosaicism and genital anomalies, 19 (61%) were raised male. Histology of 46 gonads was available from patients who had undergone a gonadectomy or gonadal biopsy, at a median age of 9.5 months. 18 gonads were palpable at presentation, including 5 (28%) histologically unremarkable testes, 2 streak gonads, and 1 dysgenetic gonad with distinct areas of testicular and ovarian stroma but no oocytes. All intra-abdominal gonads were found to be dysgenetic testes (of which 2 were noted to have pre-malignant changes) or streaks, apart from 1 histologically unremarkable testis. 15 (48%) patients had other anomalies, most commonly cardiac and renal; 4 (13%) had a Turner phenotype. The anatomy and gonadal histology of 45,X/46,XY and 45,X/47,XYY individuals with genital ambiguity do not conform to a set pattern, and hence management of each patient should be individualized according to detailed anatomical and histological assessment.
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影响因子：
1.6
作者：
GASSOMATOSES, M;PICOALFONSO, A;MIRALLINARES, A
通讯作者：
MIRALLINARES, A
DOI：
10.1016/s1028-4559(10)60042-3
发表时间：
2010-06-01
影响因子：
2.1
作者：
Kilic, Sevtap;Yukse, Beril;Dogan, Muammer
通讯作者：
Dogan, Muammer
影响因子：
--
作者：
Müller, J;Ritzén, EM;Skakkebæk, NE
通讯作者：
Skakkebæk, NE
影响因子：
5.8
作者：
Cools, M.;Pleskacova, J.;Wolffenbuttel, K. P.
通讯作者：
Wolffenbuttel, K. P.
影响因子：
2.4
作者：
DONAHOE, PK;CRAWFORD, JD;HENDREN, WH
通讯作者：
HENDREN, WH