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XY性腺发育不全中的慢性肾病、肌强直性营养不良和性腺母细胞瘤。

Chronic renal disease, myotonic dystrophy, and gonadoblastoma in XY gonadal dysgenesis.

作者信息

Simpson J L, Chaganti R S, Mouradian J, German J

出版信息

J Med Genet. 1982 Feb;19(1):73-6. doi: 10.1136/jmg.19.1.73.

DOI:10.1136/jmg.19.1.73
PMID:7069752
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1048825/
Abstract

A patient with XY gonadal dysgenesis and gonadoblastoma showed myotonic dystrophy and chronic renal disease of unknown aetiology. The coexistence of renal disease and XY gonadal dysgenesis in this and two other subjects suggests a presently obscure aetiological relationship between the phenomena.

摘要

一名患有XY性腺发育不全和性腺母细胞瘤的患者表现出强直性肌营养不良和病因不明的慢性肾病。该患者以及另外两名患者中肾病与XY性腺发育不全的共存表明这些现象之间目前存在尚不明确的病因学关系。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/69c8/1048825/7222da798e87/jmedgene00111-0082-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/69c8/1048825/7222da798e87/jmedgene00111-0082-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/69c8/1048825/7222da798e87/jmedgene00111-0082-a.jpg

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本文引用的文献

1
Renal failure wit XY gonadal dysgenesis: report of the second case.伴有XY性腺发育不全的肾衰竭：第二例报告。
Obstet Gynecol. 1980 Dec;56(6):751-2.
2
H-Y antigen in 46,XY gonadal dysgenesis.46,XY性腺发育不全中的H-Y抗原。
Hum Genet. 1980;54(1):25-30. doi: 10.1007/BF00279045.
3
Gonadal dysgenesis in individuals with apparently normal chromosomal complements: tabulation of cases and compilation of genetic data.染色体组型看似正常个体的性腺发育不全：病例列表及遗传数据汇编
Pediatr Nephrol. 1993 Oct;7(5):551-3. doi: 10.1007/BF00852544.
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The Denys-Drash syndrome.迪尼-德拉斯综合征
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Nephropathy with Wilms tumour or gonadal dysgenesis: incomplete Denys-Drash syndrome or separate diseases?伴有威尔姆斯瘤或性腺发育不全的肾病：不完全型迪尼-德拉斯综合征还是独立疾病？
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Hum Genet. 1981;58(1):91-7. doi: 10.1007/BF00284155.
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XY gonadal dysgenesis with gonadoblastoma discovered after kidney transplantation.肾移植后发现的伴有性腺母细胞瘤的XY性腺发育不全
Am J Obstet Gynecol. 1977 Sep 15;129(2):221-2. doi: 10.1016/0002-9378(77)90751-7.
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The relationship of neoplasia to disorders of abnormal sexual differentiation.肿瘤形成与异常性分化疾病之间的关系。
Birth Defects Orig Artic Ser. 1976;12(1):15-50.