[5] The condition’s symptoms vary greatly due to the diverse spectrum of gastrointestinal (GI), urogenital (genitourinary, GU), spinal, and limb anomalies possible.
[8] Though patients often present a diverse variety of symptoms, a case was observed in which a female adult with duplication of the colon, rectum, anus, urinary bladder, urethra, uterus, cervix, vagina, and external genitalia exhibited no detrimental effects.
[2] Although various theories indicate incomplete separation of monozygotic twins as an etiological factor,[3] abnormal adherence between the ectoderm and endoderm during gastrulation,[7] polytopic primary developmental field defects,[11] somatic and germ line mutations in developmental genes,[3] and damage to the caudal cell mass and posterior gut have also been linked to cause structural anomalies in the caudal region.
Normally coding for the mammalian appendicular and axial skeleton, misexpression of the genetic factors could lead to abnormal proliferation of the caudal mesenchyme.
From the 23rd to 25th day of gestation, the spinal cord develops except for its distal-most aspect where the notochord and neural tube are joined to form the caudal cell mass.
[2][12] Moreover, a midline pelvic mass defect during gestation could be an obstacle to caudal migration of paramesonephric structures (Müllerian duct), which could lead to duplication of the genital tract.
[4] The second lumen is then proposed to magnify in size in proportion to the growth of the colon, effectively duplicating all caudal structures distal from the point of separation.
[2][10] The condition can often be seen as malformations that can be diagnosed by a prenatal anomaly scan in the second trimester, while progressively detailed examinations can be conducted after the first day of life of the baby.
[16] The rare, complex syndrome includes a wide spectrum of malformations ranging from partial or isolated to complete duplication of caudal organs in GI, GU, and neural systems.
[2][6] For instance, patients with genital duplication are mostly expected to have normal menstruation, sexual intercourse, and even pregnancy,[18] although their self-esteem and quality of life may be influenced.
[5] Since the clinical presentation of each patient and its complexity vary greatly, the management which usually includes surgery are carefully planned and individualised based on the extent of duplication and functionality of the involved organs.
[4] Based on the work-up results, a multidisciplinary team consisting of a (paediatric) surgeon, a urologist, and a neurosurgeon plans individualised, staged correction.
[4][6] Reconstructive surgeries are performed to resolve the issue of functional impairments such as obstruction of colon, anatomic anomalies that hinder movement or cause infertility, and to improve cosmetic appearances in the case of genital duplication.
[4] Duplication of genital tract that does not involve functional impairment does not require surgical intervention; however, plastic surgery can be carried out to improve patients’ self-esteem and social status.
[20] Thus, the primary goal of surgical treatment for the syndrome is to relieve symptoms, not to restore normal anatomy, and hence, potentially life-threatening malformations are addressed first and often followed by other anatomic or aesthetic reconstructions in later stages.