Dataset Information

Persistent Mullerian duct syndrome with transverse testicular ectopia: A case report.

ABSTRACT: Persistent Mullerian duct syndrome (PMDS) is a rare entity of internal male pseudohermaphroditism. Transverse testicular ectopia (TTE) is the condition in which one testis moves to the other side and both testes pass the same inguinal canal. The combination of PMDS with TTE is rarer. Here, we present a case a phenotype male with left inguinal hernia and right undescended testis. On exploration of left inguinal region, uterus like tissue with its tubal structures were found. Both testes were in same side, one in left inguinal region and the other in the left scrotum.

SUBMITTER: Sigdel PR

PROVIDER: S-EPMC6503297 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature

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Persistent Mullerian duct syndrome with transverse testicular ectopia: A case report.

Sigdel Prem Raj PR Dhital Pawan P Kulung Rai Bipendra Dhoj BD Poudyal Sujeet S Luitel Bhojraj B Sharma Uttam Kumar UK

Urology case reports 20190410

Persistent Mullerian duct syndrome (PMDS) is a rare entity of internal male pseudohermaphroditism. Transverse testicular ectopia (TTE) is the condition in which one testis moves to the other side and both testes pass the same inguinal canal. The combination of PMDS with TTE is rarer. Here, we present a case a phenotype male with left inguinal hernia and right undescended testis. On exploration of left inguinal region, uterus like tissue with its tubal structures were found. Both testes were in s ...[more]

PMID: 31080737

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Project description:BackgroundTransverse 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 presentationTwo 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.ConclusionsBecause 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.

Dataset Information

Persistent Mullerian duct syndrome with transverse testicular ectopia: A case report.

Publications

Persistent Mullerian duct syndrome with transverse testicular ectopia: A case report.

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