Novel homozygous mutation in a colombian patient with persistent müllerian duct syndrome: expanded phenotype

The anti-Müllerian hormone triggers the regression of uterus and fallopian tubes in male embryos; if there are problems in the synthesis or action of this protein, Müllerian structures persist in an otherwise phenotypic male. The most frequent clinical presentation of Persistent Mullerian Duct syndr...

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Bibliographic Details
Published inInternational Brazilian Journal of Urology Vol. 45; no. 5; pp. 1064 - 1070
Main Authors Acero, Mary García, Moreno, Olga, Gutiérrez, Andrés, Sánchez, Catalina, Cataño, Juan Guillermo, Suárez-Obando, Fernando, Rojas, Adriana
Format Journal Article
LanguageEnglish
Published Brazil Sociedade Brasileira de Urologia 01.09.2019
Subjects
Adult
Anti-Mullerian Hormone
Anti-Mullerian Hormone - genetics
Challenging Clinical Cases
Colombia
Cryptorchidism - genetics
Cryptorchidism - surgery
Cytogenetic Analysis
Disorder of Sex Development, 46,XY - genetics
Disorder of Sex Development, 46,XY - surgery
Disorders of Sex Development
Homozygote
Humans
Male
Mullerian Ducts
Mullerian Ducts - abnormalities
Mullerian Ducts - surgery
Mutation
Persistent Mullerian duct syndrome [Supplementary Concept]
Phenotype
Seminoma - genetics
Seminoma - surgery
Syndrome
Testicular Neoplasms - genetics
Testicular Neoplasms - surgery
Colombia
Persistent Mullerian duct syndrome [Supplementary Concept]
Mullerian Ducts
Anti-Mullerian Hormone
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Summary:The anti-Müllerian hormone triggers the regression of uterus and fallopian tubes in male embryos; if there are problems in the synthesis or action of this protein, Müllerian structures persist in an otherwise phenotypic male. The most frequent clinical presentation of Persistent Mullerian Duct syndrome is cryptorchidism and inguinal hernia. The few cases reported in adults are incidental findings or inguinal hernias. However, we present an adult male with history of bilateral cryptorchidism with unsuccessful orchidopexy, who presents with a large abdominal mass with the finding of a seminomatous tumor and persistence of Müllerian structures, in whom the variant c.916delC (p.Leu306Cysfs*29) in the AMHR2 gene not previously reported was documented.
Bibliography:CONFLICT OF INTEREST
The authors have no ethical conflicts to disclose. The patient gave a signed informed consent according to the guidelines of the Research Ethical Committee of the National Research Center.
COMPLIANCE WITH ETHICAL STANDARDS
None declared.
ISSN:1677-5538
1677-6119
DOI:10.1590/S1677-5538.IBJU.2018.0808