Cystic dysplasia of the epididymis: a disorder of mesonephric differentiation associated with renal maldevelopment

Abstract

The occurrence of congenital epididymal malformations with a cystic component has not been fully characterized. Most epididymal cysts occur later in life and are likely acquired. In addition, congenital malformations of the male excretory system are extremely uncommon in fetuses and neonates, and epididymal dysplastic changes have not been reported in these cases. In this study, we report 20 cases (including 19 fetal/neonatal autopsies and one surgical specimen from an older child) showing the same spectrum of histological findings in the epididymis, characterized by cystic ductal dilation with dysplastic ducts of variable diameters and irregular shapes, with ill-defined walls. Efferent ductules also showed dysplastic features. In addition, 18 cases had either renal and/or urinary tract anomalies, including renal dysplasia (eight), pelvicaliceal dilation (eight), renal agenesis (four) and hypoplasia (one), ureteral agenesis (two) and hypoplasia (one), urethra and bladder agenesis (two), prostate agenesis (two), and autosomal recessive polycystic renal disease (two). Our observations led to the recognition of a peculiar, not previously described congenital lesion of the epididymis, and we propose the term cystic dysplasia of the epididymis for this anomaly. Similar to what is observed in other male genital system anomalies (including malformations of the rete testis, vas deferens, and seminal vesicles), most lesions occurred in association with renal and/or urinary tract malformations, suggesting a spectrum of congenital malformations. The shared embryological origin of these structures may explain their simultaneous occurrence, possibly related to disrupted mesonephric duct development.

Ovarian cysts in MRL / MpJ mice are derived from the extraovarian rete: a developmental study

“…By 10.5 embryonic days in mice, tubules emerge from the mesonephric duct; then between 11.5 and 13.5 embryonic days, convoluted mesonephric tubules are bound to the mesonephric duct (Vuzquez et al 1998). It has been reported that slight misalignment in embryogenesis might be involved in late mesonephric duct tissue remodeling, dilated epididymal ducts, rete testis dilation, and multicystic kidneys (Smith et al 2008;Nistal et al 2010). From these findings, abnormal cellular metabolism in the MRL strain might affect tissue organization from mesenchymal origin and the differentiation of the mesonephric duct in embryogenesis.…”

Classifying seminal vesicle cysts in the diagnosis and treatment of Zinner syndrome: A report of six cases and review of available literature

“…Congenital seminal vesicle cyst or Zinner syndrome is a rare disease of the genital system, which may be associated with other abnormalities of the reproductive system or urinary system, such as Mullerian duct cysts, ipsilateral vas deferens agenesis, abnormity of the upper urinary tract, ureterocele, or ureter agenesis, hypospadias, and abnormality of the testes, epididymis and adrenal glands (Casey, Stunell, Buckley, Flynn, & Torreggiani, ; Das & Amar, ; Fujita, Goto, & Saiki, ; Hihara et al, ; Kenney & Leeson, ; Khanduri et al, ; Manousakas et al, ; McGee, Hutcheson, Vandersteen, Reinberg, & Wolpert, ; Naval‐Baudin et al, ; Nistal et al, ; Ornstein & Kershaw, ; Patel, Gujral, Jefferson, Evans, & Persad, ; Sandler, Newhouse, & Dunnick, ; Shariat, Naderi, Miles, & Slawin, ; van den Ouden et al, ). Table presents a detailed list of these abnormalities.…”

“…The larger the cyst, the earlier and obvious the symptoms present. Seminal vesicle cysts that are <5 cm stay asymptomatic and are later discovered as a palpable abdominal mass arising from the superior aspect of the prostate gland, while cysts larger than 5 cm stay symptomatic and are caused by the mass‐effect compression of the bladder or rectum (Altobelli et al, ; Aswani et al, ; Casey et al, ; Das & Amar, ; Fujita et al, ; Hihara et al, ; Hong et al, ; Kanavaki, Vidal, Merlini, & Hanquinet, ; Kenney & Leeson, ; Manousakas et al, ; McGee et al, ; Naval‐Baudin et al, ; Nistal et al, ; Ornstein & Kershaw, ; van den Ouden et al, ; Patel et al, ; Sandler et al, ; Shariat et al, ; Slaoui et al, ). Zinner syndrome can be initially determined through imaging examination after ultrasound, CT and MRI scans.…”

Tissue-specific regulation of the mousePkhd1(ARPKD) gene promoter

“…The significance of Pkhd1 expression in the male reproductive tract is not known. However, epididymal cysts are seen in males with germline mutations of HNF-1␤ and have also been described in some patients with ARPKD, although they are not a typical feature (28).…”