Carcavilla Atilano, Alonso Milagros, Ezquieta Begoña, García-Galloway Eva, Barrio Raquel, Nistal Manuel
Pediatrics Department, Pediatric Endocrinology Unit, Hospital Ramón y Cajal, Madrid, Spain.
Fertil Steril. 2008 Nov;90(5):2005.e3-5. doi: 10.1016/j.fertnstert.2008.07.001. Epub 2008 Aug 13.
To report a case of a 46,XX male with an intratubular undifferentiated germ cell neoplasia within an extra-abdominal gonad.
Case report.
Molecular, cytogenetic, pathologic, and clinical units of three tertiary hospitals.
PATIENT(S): A male with ambiguous genitalia at birth and descended testes observed in a pediatric endocrinology setting.
INTERVENTION(S): Physical examination, hormonal assays, cytogenetic investigation, molecular analysis, surgical intervention for biopsies and bilateral orchiectomy, and pathologic evaluation.
MAIN OUTCOME MEASURE(S): Pathologic evaluation with immunostaining for placental alkaline phosphatase and C-kit.
RESULT(S): Conventional chromosome analysis revealed a 46,XXq- karyotype, and fluorescence in situ hybridization experiments with the SRY probe found a signal at the short arm of the deleted X chromosome. Molecular analysis indicated the presence of a portion of the short arm of the Y chromosome including the proto-oncogene TSPY. Pathologic evaluation of the gonads revealed an intratubular undifferentiated germ cell neoplasia.
CONCLUSION(S): This is the first case of a 46,XX male with descended testes in whom an intratubular undifferentiated germ cell neoplasia developed. When proposals of management in this subgroup of disorders of sexual differentiation are formulated, the risk of germ cell malignancy must be taken into account.
报告一例46,XX男性病例，其腹外性腺内存在小管内未分化生殖细胞瘤。
病例报告。
三家三级医院的分子、细胞遗传学、病理学和临床科室。
一名男性，出生时生殖器模糊，在儿科内分泌科检查时发现睾丸已降。
体格检查、激素测定、细胞遗传学研究、分子分析、活检及双侧睾丸切除术的手术干预以及病理评估。
采用胎盘碱性磷酸酶和C-kit免疫染色进行病理评估。
常规染色体分析显示核型为46,XXq-，使用SRY探针进行的荧光原位杂交实验在缺失的X染色体短臂上发现一个信号。分子分析表明存在Y染色体短臂的一部分，包括原癌基因TSPY。性腺的病理评估显示存在小管内未分化生殖细胞瘤。
这是首例睾丸已降的46,XX男性发生小管内未分化生殖细胞瘤的病例。在制定该性分化障碍亚组的治疗方案时，必须考虑生殖细胞恶性肿瘤的风险。
