Transabdominal Migration of the Testis

Hutson, John M.; Thorup, Jørgen; Beasley, Spencer W.

doi:10.1007/978-3-319-25910-9_2

Cited by 3 publications

(2 citation statements)

References 46 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Testicular descent is a stepwise process that involves various genes. Zimmermann et al [21] reported that complete loss of gubernacular attachment, transverse ectopia, and/ or torsion were observed in transgenic mice null for Insl3 and that INSL3 regulated gubernaculum development through its receptor, RXFP2, during the transabdominal descent of the testes [9]. In the current study, we investigated gene variants associated with testicular descent (INSL3 and RXFP2), but only one silent variant (RXFP2 c.963A>G) was observed among two patients, and the other variants were within the intronic region.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Genetic and histopathological analysis of transverse testicular ectopia without persistent Müllerian duct syndrome: two case reports

et al. 2020

View full text Add to dashboard Cite

Background Transverse testicular ectopia (TTE) is a rare anomaly in which both testes descend through a single inguinal canal into the same hemiscrotum. Although almost 20–50% of patients with TTE exhibit persistent Müllerian duct syndrome (PMDS) and many genetic analyses have been performed, no reports have described the genes contributing to TTE without PMDS. Here, we report two cases of TTE without PMDS using immunohistochemical staining and genetic analysis. Case presentation Two Asian patients with TTE without PMDS were subjected to orchiopexy. We performed testicular biopsies during operation and obtained blood samples before the operation. Testicular tissues were stained for c-kit, placental alkaline phosphatase (PLAP), and undifferentiated embryonic cell transcription factor 1 (UTF1) to evaluate the presence of intratubular malignant germ cells. Additionally, we performed polymerase chain reaction-based direct sequencing to identify single nucleotide polymorphisms in genes associated with regression of the Müllerian duct and testicular descent (that is, anti-Müllerian hormone [AMH], AMH receptor 2 [AMHR2], insulin-like 3 [INSL3], and relaxin family peptide receptor 2 [RXFP2]). The three-dimensional structures of proteins were predicted using SWISS-MODEL. In immunohistochemical analysis, c-kit and UTF1 were positive, whereas PLAP was negative in three testicular tissue samples from the two patients. These features were also detected on the unaffected side. In variant analysis, common missense variants in the AMH gene (g.365G>T; c.165G>T; p.Ser49Ile [rs10407022]) were observed. All variants in INSL3 and RXFP2 genes were intronic or silent. Conclusions Because UTF1, a specific marker of spermatogonial stem cell activity, was expressed in both the affected and unaffected sides in the testicular tissues of two patients, the risk of malignancy may be high in these patients. Although the etiology of TTE without PMDS remains unclear, our variant analysis results were consistent with previous reports, and variants in the AMH gene (rs10407022) may contribute to the specific phenotype of TTE without PMDS.

show abstract

Section: Discussionmentioning

confidence: 99%

“…Various processes are involved in descent of the testes, and insulin-like 3 (INSL3) protein is known to play a role in descent of the testes in the transabdominal phase and growth of the gubernaculum [9]. INSL3 is a member of the insulin-like hormone family and is exclusively synthesized in the gonads.…”

Section: Introductionmentioning

confidence: 99%

Genetic and histopathological analysis of transverse testicular ectopia without persistent Müllerian duct syndrome: two case reports

et al. 2020

View full text Add to dashboard Cite

show abstract

Undescended Testis

Lazarus¹,

Andrawes²,

Ullrich³

et al. 2020

Pediatric Surgery

View full text Add to dashboard Cite

On the descent of the epididymo-testicular unit, cryptorchidism, and prevention of infertility

Hadžiselimović

2017

Basic Clin. Androl.

View full text Add to dashboard Cite

This comprehensive review provides in-depth coverage of progress made in understanding the molecular mechanisms underlying cryptorchidism, a frequent pathology first described in about 1786 by John Hunter. The first part focuses on the physiology, embryology, and histology of epididymo-testicular descent. In the last 20 years epididymo-testicular descent has become the victim of schematic drawings with an unjustified rejection of valid histological data. This part also includes discussion on the roles of gonadotropin-releasing hormone, fibroblast growth factors, Müllerian inhibiting substance, androgens, inhibin B, and insulin-like 3 in epididymo-testicular descent. The second part addresses the etiology and histology of cryptorchidism as well as the importance of mini-puberty for normal fertility development. A critical view is presented on current clinical guidelines that recommend early orchidopexy alone as the best possible treatment. Finally, by combining classical physiological information and the output of cutting-edge genomics data into a complete picture the importance of hormonal treatment in preventing cryptorchidism-induced infertility is underscored.

show abstract

Transabdominal Migration of the Testis

Cited by 3 publications

References 46 publications

Genetic and histopathological analysis of transverse testicular ectopia without persistent Müllerian duct syndrome: two case reports

Genetic and histopathological analysis of transverse testicular ectopia without persistent Müllerian duct syndrome: two case reports

Undescended Testis

On the descent of the epididymo-testicular unit, cryptorchidism, and prevention of infertility

Contact Info

Product

Resources

About