case_images: PMC11324534_01
case_images: PMC11324534_02
case_images: PMC11324534_03
case_images: (A) T2-weighted pelvic magnetic resonance imaging (MRI) showing a vagina, a hypoplastic uterus (white arrowhead), and a 10-cm left-pelvic cystic lesion with partially solid components (yellow arrowhead). (B) Fat-suppression T1-weighted pelvic enhanced MRI with contrast effects showing that the left-pelvic cystic lesion (yellow arrowhead) has hematogenous contents and partially solid components, suggesting that the possibility of malignancy could not be disregarded. (C) Vaginal speculum examination upon surgery revealing an incompetent vaginal septum (white arrowhead) and an atrophic single uterine cervix (yellow arrowhead). (D) Laparotomy revealing the following intraoperative findings: the left-pelvic tumor (yellow arrowhead) is contiguous with the atrophic uterus (white arrowhead) and there are no ascites or obvious disseminated lesion. (E) Intraoperative findings after removing the uterus and left-pelvic tumor: the left-pelvic tumor was removed as one piece of tissue with the atrophic uterus, without perforation (the yellow arrowhead shows a single vagina). (F) Macroscopic findings of the surgical specimen: the permanent pathologic diagnosis indicates that the pelvic mass was a non-communicating rudimentary uterus with a retained uterine hematoma, with no malignant findings.
case_images: fmed-11-1441990-g001.jpg
case_images: PMC11324534_03_fmed-11-1441990-g001.jpg
case_images: fig1
case_images: Pelvic enhanced MRI with contrast effects showed a vagina, a hypoplastic uterus, and a 10-cm left-pelvic cystic lesion with hematogenous contents and partially solid components (Figures 1A,B). In addition, a vaginal speculum examination performed at the first visit to our institution revealed an incompetent vaginal septum and an atrophic single cervix (Figure 1C). Consequently, one piece of tissue containing both the tumor and atrophic uterus was removed without perforation (Figures 1D,E). Postoperatively, the permanent pathologic diagnosis was confirmed to be similar to the intraoperative diagnosis (Figure 1F); therefore, estrogen replacement therapy was resumed.
case_images: PMC11324534_04
case_images: (A) The conventional Sanger sequencing for NR5A1 in this case confirms a c.132_134del (p.Asn44del) heterozygous in-frame-deletion in NR5A1. The bases that differed from the reference sequence are colored in red. (B) The functional protein association networks for NR5A1, SRY, AMH, DHX37, and SLC26A8 determined using STRING. (C) The nonsynonymous variants in previously reported disorders of sex development (DSD)-causative genes and candidate genes of functional protein association networks for NR5A1, SRY, AMH, DHX37, and SLC26A8 determined using whole-exome sequencing. The American College of Medical Genetics and Genomics criteria classified the NR5A1 variant as pathogenic/likely pathogenic, whereas the variants in SRY, DHX37, SLC26A8, and CFTR were classified as benign/likely benign.
case_images: fmed-11-1441990-g002.jpg
case_images: PMC11324534_04_fmed-11-1441990-g002.jpg
case_images: fig2
case_images: Notably, WES detected some variants of previously known DSD-causing genes, including the c.132_134del (p.Asn44del) heterozygous in-frame-deletion in NR5A1 (Figure 2A) and heterozygous nonsynonymous variants of unknown significance (VUS) in DHX37 and SLC26A8, which may be involved in DSD development. In silico analysis indicated that the variant in NR5A1 was pathogenic or likely pathogenic, whereas the variants in SRY, DHX37, and SLC26A8 were benign or likely benign (Figure 2C). Furthermore, by investigating protein-protein interactions for NR5A1, SRY, AMH, DHX37, and SLC26A8 using the STRING database, 3 we detected an additional rare variant in CFTR that encodes DSD-causative proteins in these associated networks (Figures 2B,C).