PURPOSE. Mayer-Rokitansky-Kuster-Hauser (MRKU) syndrome is characterized by isolated müllerian structures aplasia. Its incidence is 1:4500 female births. The association of müllerian agenesis (MU) with renal dysplasia (R), cardiac defects (C) and cervico-thoracic somite dysplasia (S), has been classified as MURCS association or MRKU type II. While the association among anorectal malformations (ARM) and isolated vaginal atresia or isolated MRKH has been commonly reported, only two cases of MURCS syndrome associated to ARM are described in literature. We described a third case of MURCS association in adolescent patient treated elsewhere in infancy for ARM. METHODS. A 14-years-old girl was admitted for left lower abdominal pain associated to primary amenorrhea and normal 2ary sexual features. Her previous medical records documented elsewhere performed treatments of atrial defect, “anteriorly placed anus” (Y-V anuplasty), left vesico-ureteral reflux associated to right renal agenesis (Cohen’s procedure), spine surgery for scoliosis. Unsuccessful GH-treatment for low stature and a diagnosis of Townes-Brokes syndrome were also reported. At admission, a perineal evaluation revealed a patulous urethral meatus, but an unnoticed completely absent vaginal orifice. Abdomino-pelvic US and MRI showed the absence of utero-vaginal and fallopian tissues and documented both ovaries. A EUA associated to cystoscopy and exploratory laparoscopy were planned, with return of normally implanted left ureter, confirmation of complete uterine aplasia and evidence of rudimentary fallopian tubes attached to normal ovaries. RESULTS. After the laparoscopic procedure, patient and parents were informed about possible surgical options to achieve future sexual activity and to preserve fertility. At the moment the patient refuses any treatment. CONCLUSION Given the rarity of müllerian anomalies associated to ARM, the present case underlines the need of an adequate initial gynecologic evaluation in all female ARM patients. The aim is to provide guidance to patients and their families about timing and alternatives for treatment, that should be possibly performed at the same time of the ano-rectal reconstruction in infancy.

ADOLESCENTIAL DIAGNOSIS OF MURCS SYNDROME ASSOCIATED TO ANORECTAL MALFORMATION: MISSED OPPORTUNITY FOR INFANTILE TREATMENT

LISI, GABRIELE;ROSSI, CARLO;LELLI CHIESA, Pierluigi
2014

Abstract

PURPOSE. Mayer-Rokitansky-Kuster-Hauser (MRKU) syndrome is characterized by isolated müllerian structures aplasia. Its incidence is 1:4500 female births. The association of müllerian agenesis (MU) with renal dysplasia (R), cardiac defects (C) and cervico-thoracic somite dysplasia (S), has been classified as MURCS association or MRKU type II. While the association among anorectal malformations (ARM) and isolated vaginal atresia or isolated MRKH has been commonly reported, only two cases of MURCS syndrome associated to ARM are described in literature. We described a third case of MURCS association in adolescent patient treated elsewhere in infancy for ARM. METHODS. A 14-years-old girl was admitted for left lower abdominal pain associated to primary amenorrhea and normal 2ary sexual features. Her previous medical records documented elsewhere performed treatments of atrial defect, “anteriorly placed anus” (Y-V anuplasty), left vesico-ureteral reflux associated to right renal agenesis (Cohen’s procedure), spine surgery for scoliosis. Unsuccessful GH-treatment for low stature and a diagnosis of Townes-Brokes syndrome were also reported. At admission, a perineal evaluation revealed a patulous urethral meatus, but an unnoticed completely absent vaginal orifice. Abdomino-pelvic US and MRI showed the absence of utero-vaginal and fallopian tissues and documented both ovaries. A EUA associated to cystoscopy and exploratory laparoscopy were planned, with return of normally implanted left ureter, confirmation of complete uterine aplasia and evidence of rudimentary fallopian tubes attached to normal ovaries. RESULTS. After the laparoscopic procedure, patient and parents were informed about possible surgical options to achieve future sexual activity and to preserve fertility. At the moment the patient refuses any treatment. CONCLUSION Given the rarity of müllerian anomalies associated to ARM, the present case underlines the need of an adequate initial gynecologic evaluation in all female ARM patients. The aim is to provide guidance to patients and their families about timing and alternatives for treatment, that should be possibly performed at the same time of the ano-rectal reconstruction in infancy.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11564/604361
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