Hand-foot-genital syndrome is an extremely rare autosomal dominant disorder described in only nine families and less than 30 individual reported cases. Mutations in the HOXA13 gene lead to various orthopedic and urogenital malformations, urethral and ureteral defects, and various degrees of incomplete mullerian fusion. The most common urological manifestations include vesicoureteral reflux, urinary incontinence and female hypospadia. Cases often report simultaneous gynecological abnormalities such as vaginal septums and a bicornuate uterus. This study aims to describe the first reported surgical correction of a urinary tract defect due to Hand-Foot-Genital syndrome in a stepwise video of a case report.

A 34-year-old female patient came to the outpatient clinic complaining of urinary incontinence during sexual relations, with several months of worsening symptoms. Bilateral shortening of thumbs and hallux was also noted. Gynecological examination showed urethral hypospadia with opening in the anterior vaginal wall and a second orifice was identified. Upon flexible cystoscopy, no urethral meatus was visualized, with direct bladder access. Examination of the probable urogenital septum defect led to a single uterine cervix of a bicornuate uterus confirmed by pelvic MRI. Due to worsening symptoms, surgical repair of the urogenital malformation was indicated. The procedure took place in a lithotomy position under spinal block. A
n U-shaped incision was made in the anterior vaginal wall and vaginal septum and dissected. An anterior vaginal wall flap including urethral plate was mobilized and tubularized with two layers of 5-0 polidaxone in the midline over a 14-French Foley for urethral reconstruction. A Martius flap was interposed between the neourethra and vaginal wall to increase the local blood supply, improve the suburethral hammock and avoid urethral fistulae. To re-establish the urinary continence, an autologous rectus fascia pubovaginal sling was sutured to the Martius flap and placed over the neourethra, with 2-0 polyglactin. The vaginal mucosa provided the final layer of closure and created the urethral neomeatus.

The patient was discharged at the first postoperative, with an indwelling urinary catheter, with a 7-day course of levofloxacin. She had no complaints on consultation a week after discharge. The indwelling catheter was removed 25 days after the surgical procedure, with proper urinary continence.

This case demonstrates for the first time, in a didactic video, a successful method for correcting urogenital complex defects related to the female urethra in Hand foot Genital syndrome.

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Continence 7S1 (2023) 100795
DOI: 10.1016/j.cont.2023.100795