Disorder of sexual development, urinary bladder duplication, pancake kidney and neural tube defect

• Published in: Radiology case reports Vol. 18; no. 7; pp. 2354 - 2358
• Main Authors: Dineva, Svetla, Gaydarski, Lyubomir, Landzhov, Boycho
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Inc 01-07-2023; Elsevier
• Subjects: Ambiguous genitalia; Case Report; Developmental sex disorder; Double urinary bladder; Pancake kidney; Developmental sex disorder; Pancake kidney; Double urinary bladder; Ambiguous genitalia
• ISSN: 1930-0433; 1930-0433
• DOI: 10.1016/j.radcr.2023.03.049

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.