Penoscrotal transposition and associated anomalies: Report of five new cases and review of the literature

Abstract

We present the largest single series of cases (n = 5) of penoscrotal transposition (PST) with carefully documented nongenitourinary/anal anomalies, none of which fell into categories of known syndromes, associations, sequences or chromosome disorders. Several unexpected anomalies were observed including coloboma of the iris and retina, hydrocephalus, microcephaly, diaphragmatic hernia, tracheo-esophageal fistula/esophageal atresia and cleft palate. The most frequent anomalies other than PST were renal defects (100%) such as renal agenesis and dysplasia, imperforate anus (60%), central nervous system anomalies (60%) and preaxial upper limb defects (40%). Cardiovascular defects (atrial septal defect, double aortic arch with vascular ring) were noted in only one case. The surviving patients (3/5) had postnatal growth failure and mental retardation. Our 5 PST patients are compared to 16 well-documented cases from the literature. The overall incidence of various extragenital abnormalities were: renal (90%), mental retardation (60%), imperforate anus (33%), central nervous system (CNS) anomalies (29%), vertebral defects (29%), preaxial limb defects (24%) and congenital heart disease (19%). PST is a rare heterogenous anomaly, the detection of which should warrant careful clinical evaluation to rule out other anomalies, especially of the urinary system, gastrointestinal tract, upper limbs, craniofacial region and central nervous system. PST may be a localized field defect involving the genitourinary system; however, the wide variety of more distant defects noted in our series and the literature would raise doubt about that assumption. The high frequency of growth deficiency and mental retardation has also not been given due respect as accompanying problems associated with PST.

Partial urorectal septum malformation sequence: A report of 25 cases

“…These patients, like those reported in the surgical literature, have persistent cloaca, anorectal abnormalities, frequent renal anomalies, and abnormal external genitalia ranging from an enlarged clitoris in females to hypospadias and/or penoscrotal transposition in males [Wenstrup and Pagon, 1985;Lage et al, 1987;Parida et al, 1995].…”

Deletion mapping of critical region for hypospadias, penoscrotal transposition and imperforate anus on human chromosome 13

“…Forty-six PubMed citations discuss penoscrotal transposition and, of these, six of 11 with chromosomal anomalies had 13q distal deletions 2, 17, 22-25 . Penoscrotal transposition is associated with imperforate anus in about a third of cases 26 . Anorectal malformations also demonstrate great phenotypic variability, affecting 1 in 1500 to 1 in 5000 live births, with an even gender distribution 27-30 .…”

Fetal Diagnosis of Penoscrotal Transposition Associated with Perineal Lipoma in One Twin

“…PST is known to be associated with anomalies of a variety of organs, especially in the complete type of this condition [5] . Fetal MRI is useful to discriminate between genital organs and tumor and to evaluate the features of the tumor.…”