Dataset Information

Persistent Mullerian Duct Syndrome: A Single-Center Experience.

ABSTRACT: Context:Persistent Mullerian duct syndrome (PMDS) is a rare disorder. It is a type of male pseudohermaphroditism, usually presenting as "Hernia Uteri Inguinalis". Aims:This study aims to present our experience of PMDS, over a 7-year period. Settings and Design:Our center is a tertiary care facility, situated in Tamil Nadu, a southern state of India. Subjects and Methods:This is a retrospective study. The study period was from 2007 to 2015. Seven cases presented during that period. The difficulties in diagnosis, treatment options discussed, along with a review of literature are presented. Results:Seven cases of PMDS presented over 8 years. Only four were diagnosed preoperatively. Mullerian remnants were excised in five cases. Conclusions:PMDS is rare. Orchiopexy should be the goal of treatment.

SUBMITTER: Natarajan S

PROVIDER: S-EPMC6182940 | biostudies-other | 2018 Oct-Dec

REPOSITORIES: biostudies-other

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Persistent Mullerian Duct Syndrome: A Single-Center Experience.

Natarajan Saravanan S Periasamy Manikandhan M Rangasamy Saminathan S Mohan Shankar S Sundararajan Prabakaran P

Journal of Indian Association of Pediatric Surgeons 20181001 4

<h4>Context</h4>Persistent Mullerian duct syndrome (PMDS) is a rare disorder. It is a type of male pseudohermaphroditism, usually presenting as "Hernia Uteri Inguinalis".<h4>Aims</h4>This study aims to present our experience of PMDS, over a 7-year period.<h4>Settings and design</h4>Our center is a tertiary care facility, situated in Tamil Nadu, a southern state of India.<h4>Subjects and methods</h4>This is a retrospective study. The study period was from 2007 to 2015. Seven cases presented durin ...[more]

PMID: 30443115

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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: A Single-Center Experience.

Publications

Persistent Mullerian Duct Syndrome: A Single-Center Experience.

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