Female urogenital reconstruction in a case of sexual development disorder (46, XY) with cloacal exstrophy associated with diphallia

Abstract

Disorders (or differences) of Sex Development (DSD) comprise a state of genetic, gonadal and genital variation. Among the conditions associated with DSD is cloacal exstrophy, a rare congenital malformation part of the exstrophy-epispadias malformation complex. Thus, the case of a patient with rare involvement of DSD 46, XY cloacal exstrophy associated with diphallia who underwent surgical treatment for female urogenital reconstruction is reported. The patient's electronic medical record was reviewed after presenting and accepting the Informed Consent. Sociodemographic and clinical-epidemiological variables and pre- and postoperative data were analyzed. The patient was 20 years old, white and raised considering to be female. She was born with cloacal exstrophy, with severe morphological changes in the external genitalia, and submitted to terminal ileostomy, cystoplasty, and rudimentary large bowel colectomy during the neonatal period. At 13 years of age, the patient reported discomfort with the appearance of her external genitalia and the need for constant use of diapers due to urinary incontinence. The patient underwent reconstruction of the urinary and genital tracts during adolescence besides a genitoplasty followed by regular vaginal dilation. At age 17, she reported feeling satisfied with the surgical result, denied discomfort with the current aspect of her genitalia and mentioned identifying herself with the female and male genders, with increased adherence to typically female behaviors. A supposedly favorable outcome in the late adolescence of a DSD 46, XY cloacal exstrophy subject who underwent surgical adaptation for sexual definition after a multidisciplinary approach was reported. The patient revealed a non-binary gender identity, absence of gender dysphoria, satisfaction with her own body and androphilic sexual orientation.