Cho Kristy, Havelock Jon C, Gilks Blake, Dunne Caitlin
a Department of Obstetrics and Gynaecology, Division of Reproductive Endocrinology and Infertility , University of British Columbia , Vancouver , Canada.
b Pacific Centre for Reproductive Medicine (PCRM) , Burnaby , Canada.
Gynecol Endocrinol. 2018 Jul;34(7):563-566. doi: 10.1080/09513590.2018.1431215. Epub 2018 Jan 24.
Our report details the workup and management of a 43-year-old woman with an identical twin who presented with 2 years of virilization and secondary amenorrhea. Serum total testosterone was elevated. An MRI did not identify adnexal or adrenal pathology. Subsequent ovarian vein sampling demonstrated unilateral testosterone elevation. The patient underwent laparoscopic unilateral oophorectomy resulting in the diagnosis of Sertoli-Leydig cell tumor (SLCT). Although SLCT is a rare sex-cord ovarian tumor, it is associated with endometrial hyperplasia and malignancy. Our goals are to review the workup of androgen-secreting tumors and discuss the clinical importance of the DICER1 mutation in the context of SLCT. In this case, an identical twin underwent DICER1 testing which was one of the essential steps in her clinical management.
我们的报告详细介绍了一名43岁女性的检查和治疗过程,该女性有一名同卵双胞胎姐妹,她出现了2年的男性化和继发性闭经症状。血清总睾酮水平升高。磁共振成像(MRI)未发现附件或肾上腺病变。随后的卵巢静脉采样显示单侧睾酮升高。该患者接受了腹腔镜下单侧卵巢切除术,结果诊断为支持-间质细胞瘤(SLCT)。虽然SLCT是一种罕见的性索卵巢肿瘤,但它与子宫内膜增生和恶性肿瘤有关。我们的目标是回顾分泌雄激素肿瘤的检查过程,并讨论DICER1突变在SLCT背景下的临床重要性。在这个病例中,一名同卵双胞胎姐妹接受了DICER1检测,这是其临床管理中的关键步骤之一。