Splenogonadal fusion misdiagnosed as spermatic cord cyst: a case report.

INTRODUCTION: Splenogonadal fusion is a rare congenital anomaly. The aim of this study was to report a case of splenogonadal fusion mimicking a spermatic cord cyst, and discuss therapeutic management of this rare congenital malformation. OBSERVATION: An eight-years old patient was presented with an asymptomatic three-centimeter oval scrotal mass mistaken for a spermatic cord cyst. Surgical exploration has revealed tow purple-red, firm encapsulated masses. The first mass was two cm long and adherent to the upper pole of the left testis with a cleavage plane. The second mass was four cm long, attached to the first by a fibrous cord and drawn on its superior pole by a serpiginous vascular structure that extended inside the abdomen. The spermatic cord was individualized. Extemporaneous anatomopathological examination of the first mass, totally excised, has concluded to benign lesion. Therefore, the peritoneum was opened, and the superior mass was excised as high as it could be reached without orchiectomy. Definitive Anatomopathological examination concluded to an ectopic splenic tissue. The final diagnosis was a continuous splenogonadal fusion. CONCLUSION: This case highlights the clinical characteristics of this condition, with a special focus on the signs and findings that might help prevent unnecessary orchiectomy. Consequently, it is essential to include this malformation in the differential diagnosis of scrotal masses in children.

Splenogonadal fusion - a rare cause of scrotal swelling: a case report.

BACKGROUND: Splenogonadal fusion is a rare and benign condition. Diagnosis is challenging for clinicians. Despite its indolence, diagnosis is often confirmed after orchidectomy. Surgery is mandatory, particularly to rule out the extremely rare association with malignancy. CASE PRESENTATION: We report a case of splenogonadal fusion in a 38-year-old North African man presenting a palpable scrotal mass. We describe clinical aspects, pathogenic hypothesis, radiological features, as well as surgical management principles. CONCLUSIONS: Splenogonadal fusion is rarely suspected and diagnosed preoperatively. A diagnosis is made once an ectopic testicular mass is associated with cryptorchidism and suggestive radiological signs. A better knowledge of the clinical and radiological features of splenogonadal fusion provides an opportunity for conservative surgery.

Scrotoschisis: a case report.

BACKGROUND: Scrotoschisis is a rare congenital anomaly of the scrotal wall with idiopathic etiology and unknown prevalence. This pathology is extremely rare. We report a new case and review the literature for relevant data. CASE PRESENTATION: A 3-day-old full-term baby boy of African ethnicity, who had a homebirth, with birth weight of 2.7 kg presented to our emergency department with exteriorization of left testis; after clinical examination and proper investigations the diagnosis was scrotoschisis. Surgical treatment was performed by primary closure with excellent follow-up. We reviewed the literature to elaborate on the etiology of this pathology and its management. CONCLUSIONS: Scrotoschisis is a rare congenital anomaly affecting healthy babies. Early management is substantial. Further studies are recommended to learn more about the etiology and long-term results, including the effect on the fertility.

Pediatric scrotal ultrasound: review and update.

In this pictorial essay the authors review the normal sonographic gray-scale and Doppler appearance of the pediatric scrotum with an emphasis on technique. The authors present an update on ultrasound diagnosis and outcomes in testicular torsion and differentiation from other acute scrotal processes, as well as sonographic imaging of testicular microlithiasis and uncommon or atypical scrotal masses including splenogonadal fusion, polyorchidism, meconium peritonitis and epidermoid cyst. Further, the authors discuss testicular neoplasms in the context of testicular microlithiasis.

Testicular Fibrous Hypoplasia in Cynomolgus Monkeys ( Macaca fascicularis): An Incidental, Congenital Lesion.

Testicular fibrous hypoplasia is an incidental lesion characterized by replacement of the testicular parenchyma by mature collagen. A retrospective survey of hematoxylin and eosin-stained testicular sections from 722 purpose-bred Asian and 90 Mauritian cynomolgus monkeys from 56 safety assessment studies conducted between 1999 and 2011 was performed. The incidence of the lesion increased markedly over time. No cases occurred between 1999 and 2004. Between 2005 and 2009, the incidence ranged between 8.1% and 11.0% of the monkeys examined and then rose to 26.1% in 2010 and 30.9% in 2011. Overall, the lesion was identified in 10.94% of Asian monkeys with the highest incidence in animals originating from China and Vietnam; severity ranged from minimal to severe and it occurred unilaterally (38.5%) and bilaterally (61.5%). In Mauritian monkeys, the lesion was predominantly minimal in severity, bilateral in distribution, and affected 6.6% of the animals examined. The lesion occurred regardless of sexual maturation status but when present in mature monkeys was often associated with cystic tubular atrophy of the seminiferous epithelium. Based on the morphological characteristics of the lesion and the unilateral/bilateral distribution, the lesion is considered to be a congenital or developmental abnormality.

Scrotoschisis in a neonate with meconium peritonitis and periorchitis.

We present the case of an infant born with scrotoschisis and evidence of meconium periorchitis and peritonitis. A scrotal defect was noted with exposure of the left testis and spermatic cord. Meconium peritonitis and periorchitis were confirmed on operative exploration. Given the history, cystic fibrosis was suspected, but initial screening and diagnostic tests were negative.

Quadruple Orchidopexy for Torsion Testis in an Adolescent With Polyorchidism: A Case Report.

We report a case of testicular torsion in an adolescent with polyorchidism, specifically quadorchidism. Sonographic and intraoperative images are provided to describe the presentation and management of this case, while the challenges and pitfalls with this clinical scenario are discussed.

A rare case: testicular exstrophy or scrotoschisis? A report and discussion.

Anomalies of testicular descent are very common but scrotal wall deformity leading to extrusion of testes is very rare. This anomaly is described as scrotoschisis or testicular exstrophy. In English literature less than 15 cases were reported till date to the best of our knowledge. A rare case of unilateral testicular exstrophy in a full term 3-day-old neonate is reported here along with review of literature and discussions on probable etiology.

Congenital extrusion of testis (scrotoschisis).

A one-day, full term newborn, born to a healthy mother presented with exposed right testicle out of right hemiscrotum since birth. Physical examination showed normal looking testicle and spermatic cord, which was stained with meconium. All baseline investigations and ultrasound of abdomen were within normal limits. There was no visible associated anomaly. Scrotum was explored and viable testis was repositioned. Postoperative recovery was uneventful. At three months follow-up, testicle was good in size and normal in position.

Splenogonadal fusion mimicking a testis tumor.

The presence of ectopic splenic tissue in the scrotum is attributed to splenogonadal fusion, a rare congenital anomaly. This ectopic splenic tissue can be an incidental finding or less often present as a scrotal mass later in adult life. Given the rarity of splenogonadal fusion, especially in the adult population, this case highlights the clinical characteristics of the condition, with a special focus on the signs and findings that might help prevent unnecessary orchiectomy.

Splenogonadal fusion: a rare etiology of solid testicular mass.

A 35-year-old man presented with a painless left scrotal mass. Pathologic examination after orchiectomy revealed splenogonadal fusion. Splenogonadal fusion is an exceptionally rare, typically benign, congenital anomaly. Splenogonadal fusion should be included in the differential diagnosis of a left-sided testicular mass.

Phthalate-induced pathology in the foetal testis involves more than decreased testosterone production.

Foetal exposure to phthalates is known to adversely impact male reproductive development and function. Developmental anomalies of reproductive tract have been attributed to impaired testosterone synthesis. However, species differences in the ability to produce testosterone have been noted; e.g., following foetal exposure, abnormal clustering of Leydig cells or decreased production of testosterone that is manifested in rats does not occur in mice or humans. Nonetheless, other facets of testicular dysgenesis occur in both rats and mice as well as in some other species tested. We recently published a comprehensive evaluation of the foetal rat testis proteome, following in utero exposure to diethylhexyl phthalate (DEHP), which revealed changes in individual proteins that are known to be factors in cellular differentiation and migration or related to the capacity of the foetal Leydig cell to produce testosterone and fit a pathway network in which each is regulated directly or indirectly by oestradiol. Plasma oestradiol indeed was found to be elevated approximately twofold in 19-day-old DEHP-exposed foetal male rats. In this brief review, we discuss our new findings vis-à-vis 'oestrogen hypothesis' as a cause for testicular dysgenesis syndrome.

Continuous-type splenogonadal fusion: report of a rare case.

Splenogonadal fusion is a rare congenital anomaly. It has two subtypes, discontinuous and continuous. Up to one-third of continuous-type fusion is associated with other congenital anomalies. We present a continuous-type splenogonadal fusion case that was found incidentally during indirect hernia repair; the testicle was preserved during excision. Laparoscopic exploration was helpful in identifying the isolated polysplenia as the origin of continuous-type splenogonadal fusion, and in excising the cord-like attachment proximally. The patient had no other associated anomaly.

Polyorchidism: a torted right-sided supernumerary testis.

Polyorchidism is a rare congenital anomaly defined by the presence of more than two histologically proven testes. The commonest variant is triorchidism, the supernumerary testis being commonly reported on the left side. Most cases of polyorchidism are found incidentally in association with undescended testis, hydrocele, hernia or torsion. We report a right-sided triorchidism in a 15-year-old boy found at time of groin exploration for an irreducible right inguinal hernia.

Novel molecular targets associated with testicular dysgenesis induced by gestational exposure to diethylhexyl phthalate in the rat: a role for estradiol.

Significant research has been focused on phthalate-induced alterations in male reproductive development. Studies on rodents have prompted the notion that a syndrome exists in the human male which includes phenotypic alterations such as hypospadias, cryptorchidism, poor semen quality, and even testicular cancer. Each phenotype in this 'testicular dysgenesis syndrome' is predicated on reduction in testosterone production by the fetal Leydig cell. We sought to examine the relationship between dysgenesis and steroidogenic capacity in the fetal rat testis more stringently by incorporating lower exposures than those typically used, conducting a comprehensive, non-targeted quantitative evaluation of the fetal testis proteome, and relating alterations in individual proteins to the capacity of the fetal Leydig cell to produce testosterone, and histopathology of the fetal testis. Pregnant dams were dosed orally from gestation day (GD) 13-19 with 0, 10, or 100 mg diethylhexyl phthalate (DEHP)/kg body weight per day. Each endpoint was represented by 16l. Clustering of Leydig cells occurred before any significant decrease in the capacity of the GD19 Leydig cell to produce testosterone. At 100 mg DEHP/kg, testosterone production was reduced significantly, Leydig cell clusters became quite large, and additional dysgenetic changes were observed in the fetal testis. Of 23 proteins whose expression was altered significantly at both DEHP exposure levels, seven were found to be correlated with and predictive of the quantified endpoints. None of these proteins have been previously implicated with DEHP exposure. Notably, pathway analysis revealed that these seven proteins fit a pathway network in which each is regulated directly or indirectly by estradiol.

A polyorchid dog.

The case of a polyorchid Irish Setter is presented here. Castration and intra-abdominal testis removal were performed one year of age when one scrotal and one cryptorchid testis near the right inguinal canal were removed. Later it became apparent that there was still testosterone production. A third testis, abdominal cryptorchid, was found on the right side cranially and right to the bladder. The third testis had a strong cranial suspensory ligament and the tail of the epididymis was elongated. The ductus deferens did not enter the prostate but followed the gubernaculum to the inguinal canal near the stump of the previous operation on the caudal right testis. This suggests that two right cryptorchid testes had common ductus deferens.

[Splenogonadal fusion: a case report]. / Fusion splénogonadique : à propos d'un cas.

Splenogonadal fusion is a rare congenital abnormality. Preoperative diagnosis is difficult but can be based on scintigraphy using technetium 99m. In most cases, the splenic tissue can be dissected off the gonadal structures easily, and if there are any doubts concerning the nature of the swelling, an intraoperative frozen section can be performed to avoid an unnecessary orchidectomy. We report the case of a 4-year-old child in whom an inguinal mass indicated surgical exploration, which documented the histological diagnosis of splenogonadal fusion.

Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.

Genes mutated in congenital malformation syndromes are frequently implicated in oncogenesis, but the causative germline and somatic mutations occur in separate cells at different times of an organism's life. Here we unify these processes to a single cellular event for mutations arising in male germ cells that show a paternal age effect. Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes identified 2 mutations in FGFR3 (both 1948A>G, encoding K650E, which causes thanatophoric dysplasia in the germline) and 5 mutations in HRAS. Massively parallel sequencing of sperm DNA showed that levels of the FGFR3 mutation increase with paternal age and that the mutation spectrum at the Lys650 codon is similar to that observed in bladder cancer. Most spermatocytic seminomas show increased immunoreactivity for FGFR3 and/or HRAS. We propose that paternal age-effect mutations activate a common 'selfish' pathway supporting proliferation in the testis, leading to diverse phenotypes in the next generation including fetal lethality, congenital syndromes and cancer predisposition.

Total laparoscopic correction of transverse testicular ectopia.

Transverse testicular ectopia is a well-described, rare congenital abnormality of testicular maldescent, in which both testes descend through one inguinal canal. There have been few reports on the laparoscopic diagnosis and laparoscopy-assisted management of this condition. We present a case of a 5-year-old boy who underwent laparoscopy for a right impalpable testis. During the procedure, the right testis was identified at the left internal ring. The common investing meso-orchium was divided and the right testis was brought down through the right inguinal canal laparoscopically. As far as we are aware, this is the first case of transverse testicular ectopia managed entirely laparoscopically.