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首页> 外文期刊>International journal of endocrinology >Delayed Recognition of Disorders of Sex Development (DSD): A Missed Opportunity for Early Diagnosis of Malignant Germ Cell Tumors
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Delayed Recognition of Disorders of Sex Development (DSD): A Missed Opportunity for Early Diagnosis of Malignant Germ Cell Tumors

机译：性发育障碍（DSD）的延迟认识：恶性生殖细胞肿瘤早期诊断的机会错失。

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Disorders of sex development (DSD) are defined as a congenital condition in which development of chromosomal, gonadal or anatomical sex is atypical. DSD patients with gonadal dysgenesis or hypovirilization, containing part of the Y chromosome (GBY), have an increased risk for malignant type II germ cell tumors (GCTs: seminomas and nonseminomas). DSD may be diagnosed in newborns (e.g., ambiguous genitalia), or later in life, even at or after puberty. Here we describe three independent male patients with a GCT; two were retrospectively recognized as DSD, based on the histological identification of both carcinomain situand gonadoblastoma in a single gonad as the cancer precursor. Hypospadias and cryptorchidism in their history are consistent with this conclusion. The power of recognition of these parameters is demonstrated by the third patient, in which the precursor lesion was diagnosed before progression to invasiveness. Early recognition based on these clinical parameters could have prevented development of (metastatic) cancer, to be treated by systemic therapy. All three patients showed a normal male 46,XY karyotype, without obvious genetic rearrangements by high-resolution whole-genome copy number analysis. These cases demonstrate overlap between DSD and the so-called testicular dysgenesis syndrome (TDS), of significant relevance for identification of individuals at increased risk for development of a malignant GCT.
机译：性发育障碍（DSD）被定义为先天性疾病，其中染色体，性腺或解剖性行为的发育不典型。患有部分性腺发育不全或机能不足的DSD患者（包含Y染色体（GBY）的一部分）罹患恶性II型生殖细胞肿瘤（GCT：精原细胞瘤和非精原细胞瘤）的风险增加。 DSD可以在新生儿（例如，生殖器模棱两可）中诊断，或者在生命后期甚至在青春期或之后都可以诊断。在这里，我们描述了三名独立的GCT男性患者。基于组织原位癌和单个性腺中的性腺母细胞瘤作为癌前体的组织学鉴定，两个被追溯地认定为DSD。历史上的血和隐睾症与这个结论是一致的。第三位患者证明了识别这些参数的能力，其中第三位患者在进展为浸润性之前就已诊断出前体病变。基于这些临床参数的早期识别可能已经预防了（转移性）癌症的发展，需要通过全身疗法进行治疗。通过高分辨率全基因组拷贝数分析，所有三名患者均表现出正常的男性46，XY核型，没有明显的基因重排。这些案例表明，DSD与所谓的睾丸发育不全综合征（TDS）之间存在重叠，这与识别罹患恶性GCT的风险增加的个体具有显着相关性。

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