Shabtai F, Schwartz A, Hart J, Halbrecht I, Kimche D
Gattegno Research Institute of Human Reproduction and Fetal Development, Hasharon Hospital, Golda Medical Center, Petah Tikva, Israel.
J Urol. 1991 Sep;146(3):833-4. doi: 10.1016/s0022-5347(17)37934-x.
We describe a neonate who presented with multiple severe malformations including polyorchidism. To our knowledge this is the second case reported with ipsilateral testes located intra-abdominally. Chromosomal studies in cases of polyorchidism have been reported previously only once and the patient exhibited a normal karyotype. Our patient had a chromosome 21 long arm deletion. Interestingly, a trisomy 21 patient has been reported with agonadism. We suggest that genes on chromosome 21 may have some role in gonadal development.
我们描述了一名患有包括多睾症在内的多种严重畸形的新生儿。据我们所知，这是第二例报告的同侧睾丸位于腹腔内的病例。多睾症病例的染色体研究此前仅报道过一次，且该患者表现出正常的核型。我们的患者存在21号染色体长臂缺失。有趣的是，曾有一名21三体综合征患者被报道患有无性腺症。我们认为21号染色体上的基因可能在性腺发育中发挥一定作用。
