Papanikolaou Athanasios D, Goulis Dimitrios G, Giannouli Chariklia, Gounioti Christina, Bontis John N, Papadimas John
Reproductive Endocrinology Unit, 1st Department of Obstetrics & Gynecology, Hippocration General Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Endocr Pathol. 2003 Summer;14(2):177-82. doi: 10.1385/ep:14:2:177.
We report the case of a 17-yr-old male with ambiguous genitalia, 45,X/46,XY mosaic karyotype, and Y chromosome microdeletions. The patient underwent a testicular biopsy at the age of 6 with normal findings. A second biopsy at the age of 17 established the diagnosis of intratubular germ cell neoplasia (ITGCN), which was treated with bilateral orchidectomy. This case report deals with three important issues regarding ITGCN: First, although a prepubertal biopsy can be performed in order to provide evidence for future fertility, it is very unreliable for making a diagnosis of ITGCN. Second, because ITGCN tends to be a generalized procedure that affects both testes in a uniform pattern, a small number of biopsies, even a single one, could be adequate for diagnostic purposes in the majority of cases. Third, although the population that requires screening for ITGCN remains controversial, the early postpubertal period could be the optimum time for a testicular biopsy.
我们报告了一例17岁男性患者，其生殖器模糊不清，核型为45,X/46,XY嵌合体，且存在Y染色体微缺失。该患者6岁时接受了睾丸活检，结果正常。17岁时再次活检确诊为管内生殖细胞瘤（ITGCN），随后接受了双侧睾丸切除术。本病例报告涉及有关ITGCN的三个重要问题：第一，尽管青春期前活检可为未来生育提供证据，但对于诊断ITGCN非常不可靠。第二，由于ITGCN往往是一种全身性病变，以均匀方式累及双侧睾丸，因此在大多数情况下，少量活检甚至单次活检就足以用于诊断目的。第三，尽管需要筛查ITGCN的人群仍存在争议，但青春期后早期可能是进行睾丸活检的最佳时机。
