Partial urorectal septum malformation sequence: a report of 25 cases

Area of Science:

• Pediatric Surgery
• Developmental Biology
• Medical Genetics

Background:

• The urorectal septum malformation (URSM) spectrum encompasses a range of congenital anomalies resulting from improper cloacal septation.
• The partial URSM sequence is a less severe variant characterized by a single perineal opening and an imperforate anus.

Purpose of the Study:

• To describe the clinical characteristics, associated anomalies, and outcomes of patients diagnosed with the partial URSM sequence.
• To differentiate the partial URSM sequence from other congenital conditions like VATER association and sex hormone-related disorders.

Main Methods:

• Retrospective review of 25 cases with partial URSM sequence diagnosed over 27 years.
• Analysis of patient demographics, anatomical abnormalities (genital, renal), and long-term survival.

Main Results:

• The partial URSM sequence was observed in 25 patients (18 female, 7 male), with ambiguous genitalia being common.
• Internal pelvic structures typically featured a cloaca, with frequent internal genital abnormalities (bifid/septate vagina, bicornuate uterus) and renal anomalies (cystic dysplasia, agenesis).
• Twenty-one out of 25 patients achieved long-term survival.

Conclusions:

• The partial URSM sequence represents a distinct clinical entity within the URSM spectrum, characterized by specific anatomical findings and a generally favorable prognosis.
• Understanding the URSM spectrum aids in accurate diagnosis and management, distinguishing it from other congenital malformation syndromes.