Early manifestations of testicular dysgenesis in children: pathological phenotypes, karyotype correlations and precursor stages of tumour development
Early manifestations of testicular dysgenesis in children: pathological phenotypes, karyotype correlations and precursor stages of tumour development
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儿童睾丸发育不全的早期表现：病理表型、核型相关性和肿瘤发展的前期阶段
DOI：
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发表时间：
2003
期刊：
影响因子：
--
通讯作者：
M. Gamboni
中科院分区：
文献类型：
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作者：
H. Chemes;P. Muzulin;M. Venara;María DEL CARMEN MUHLMANN;Macarena Martínez;M. Gamboni
睾丸发育不良是由染色体畸变/嵌合或SRY或其他睾丸分化基因突变/缺失引起的性腺发育异常引起的。发育不良的男性假两性畸形患者有双侧发育不良的睾丸，其特征是有一个皮层网状的精索吻合，穿透薄的白蛋白。在不对称性腺分化（或混合性性腺发育不良）中，发育不良的睾丸伴有条纹性腺，原始性索嵌在卵巢样基质中。单卵泡或双卵泡确定了真正的雌雄同体。荧光原位杂交研究表明，马赛克患者的性染色体在不对称性腺中不均匀分布。在条纹性腺中，X系比46，xy系占优势，而在发育不良的睾丸中，两者的关系更为相等，说明睾丸或条纹的分化与X0系和XY系的平衡有关。当X0或XX细胞明显占优势时，睾丸发育不良更为严重。XY细胞比例越高，发育不良程度越低。DNA密度测定表明肿瘤转化的发生率高于先前预期。各种标本显示出明确的非整倍体直方图，但没有明确的细胞学CIS表型指示。非整倍体生殖细胞有广泛的细胞学差异，从正常的大婴儿精原细胞到性腺细胞/CIS细胞。非整倍性可能先于CIS表型的完全表达。如有疑问，我们建议进行DNA密度测定，以确认或放弃其肿瘤性质。生殖细胞肿瘤发生过程中最早可识别的变化可能是胎儿生殖细胞的多倍体化，随后分散在婴儿精管中的分离生殖细胞表达CIS表型，随后增殖形成成人型CIS模式。
Testicular dysgenesis derives from abnormal gonadal development caused by chromosome aberrations/mosaicisms or mutations/deletions in SRY or other genes responsible for testicular differentiation. Dysgenetic male pseudohaermaphroditism has bilateral dysgenetic testes characterized by a cortical network of anastomosing seminiferous cords that penetrate a thin albuginea. In asymmetric gonadal differentiation (or Mixed Gonadal Dysgenesis) a dysgenetic testis associates with a streak gonad with primitive sex cords embedded in an ovarian‐like stroma. Uni‐ or bilateral ovotestes identify true haermaphroditism. Fluorescent in situ hybridisation studies demonstrate that the sex chromosomes of mosaic patients do not distribute homogeneously in asymmetric gonads. 45,X lines predominate over 46,XY in streak gonads, while the relationship between these two is more equivalent in dysgenetic testes, suggesting that testicular or streak differentiation is related to the balance between X0 and XY lines. Testicular dysgenesis is more severe when there is a frank predominance of X0 or XX cells. Higher percentages of XY cells coincide with lesser degrees of dysgenesis. DNA densitometry indicate a higher incidence of neoplastic transformation than previously anticipated. Various specimens showed clear aneuploid histograms but no clear indication of a cytological CIS phenotype. There was a wide cytological variation in aneuploid germ cells, ranging from normally looking big infantile spermatogonia to gonocyte/CIS cells. Aneuploidy probably precedes the full expression of the CIS phenotype. In case of doubt we recommend DNA densitometry to either confirm or discard their neoplastic nature. The earliest recognizable change in germ cell tumorigenesis is probably the polyploidisation of fetal germ cells, followed by the expression of the CIS phenotype in isolated germ cells scattered along infantile seminiferous tubules that later proliferate to give an adult type CIS pattern.
影响因子：
3.3
作者：
ROBBOY, SJ;MILLER, T;CRAWFORD, JD
通讯作者：
CRAWFORD, JD
影响因子：
2.7
作者：
Claude M. Nagamine;Ken-ichirou Morohashi;C. Carlisle;Dennis K. Chang
通讯作者：
Claude M. Nagamine;Ken-ichirou Morohashi;C. Carlisle;Dennis K. Chang