Müllerian agenesis in the presence of anorectal malformations in female newborns: a diagnostic challenge.
- Author:
Xin Ling TEO
1
;
Kannan Laksmi NARASIMHAN
1
;
Joyce Horng Yiing CHUA
1
Author Information
- Publication Type:Case Reports
- Keywords: Müllerian agenesis; anorectal malformations
- MeSH: Abnormalities, Multiple; diagnosis; Anal Canal; abnormalities; surgery; Anorectal Malformations; Anus, Imperforate; complications; diagnosis; surgery; Child; Diagnosis, Differential; Esophagus; abnormalities; Female; Heart Defects, Congenital; complications; Humans; Infant, Newborn; Kidney; abnormalities; Laparoscopy; Limb Deformities, Congenital; complications; Mullerian Ducts; abnormalities; Rectal Fistula; diagnosis; Rectum; abnormalities; surgery; Spine; abnormalities; Trachea; abnormalities; Vagina; abnormalities
- From:Singapore medical journal 2015;56(5):e82-4
- CountrySingapore
- Language:English
- Abstract: Rectovestibular fistula is the most common type of anomaly found in a female newborn with anorectal malformation. However, when the baby is found to have two orifices in the introitus, rectovaginal fistula is much less common and suspected. The rare differential diagnosis of Müllerian agenesis, a condition in which the rectum shifts anteriorly and the vagina is absent, is seldom considered. In many cases, the diagnosis of Müllerian agenesis is made only during definitive anorectoplasty. In view of its impact on management, a proper examination under anaesthesia, imaging studies and a diagnostic laparoscopy may be required to confirm the presence or absence of Müllerian structures in such patients. We herein describe a patient with the rare coexistence of VACTERL association and Müllerian agenesis, and discuss the management of anorectal malformations in female patients with Müllerian agenesis.
