Dineva Svetla, Gaydarski Lyubomir, Landzhov Boycho
Radiology Department, National Cardiology Hospital, "Konyovitsa" 65 Str, Sofia, 1309, Bulgaria.
Department of Anatomy, Histology and Embryology, Medical University of Sofia, Sofia, Bulgaria.
Radiol Case Rep. 2023 Apr 29;18(7):2354-2358. doi: 10.1016/j.radcr.2023.03.049. eCollection 2023 Jul.
Congenital malformations of the urogenital system with fully developed duplications, such as urinary bladder, are sporadic. They are often present in the setting of endogenous molecular disbalance, such as steroid metabolism disturbances. Other rare manifestations of hormonal disbalance present as intersex conditions in which the individual has karyotype-specific internal genital organs with opposite-sex signs of the external genitalia, known as ambiguous genitalia. Congenital variations and malformations are often fully recognized and understood during radiological exams. Herein we present a unique case of a 2-month-old baby with female chromosomal sex and ambiguous genitalia together with the manifestation of several anatomical malformations: urinary bladder duplication in the coronal plane, pancake kidney with supernumerary renal arteries, 2 ureters and neural tube defect. Despite their low incidence rate, knowledge of such malformations is paramount for correct diagnosis and treatment in such cases.
泌尿生殖系统的先天性畸形，如膀胱完全发育重复，是散发性的。它们常出现在内源性分子失衡的情况下，如类固醇代谢紊乱。激素失衡的其他罕见表现为两性畸形，即个体具有特定核型的内生殖器，同时伴有异性的外生殖器体征，称为生殖器模糊。先天性变异和畸形在影像学检查中常能得到充分认识和理解。在此，我们报告一例独特的病例，一名2个月大的女婴，染色体性别为女性，生殖器模糊，同时伴有多种解剖畸形：膀胱在冠状面重复、饼状肾伴额外肾动脉、两条输尿管和神经管缺陷。尽管这些畸形的发病率较低，但了解此类畸形对于此类病例的正确诊断和治疗至关重要。
