Autosomal Recessive Segregation of a Truncating Mutation of Anti-Mullerian Type II Receptor in a Family Affected by the Persistent Mullerian Duct Syndrome Contrasts with Its Dominant Negative Activity in Vitro

2001 ◽  
Vol 86 (9) ◽  
pp. 4390-4397 ◽  
Author(s):  
L. Messika-Zeitoun
Keyword(s):  
Autosomal Recessive ◽  
Dominant Negative ◽  
Mullerian Duct ◽  
Type Ii ◽  
Müllerian Duct ◽  
Truncating Mutation ◽  
Persistent Mullerian Duct Syndrome ◽  
Dominant Negative Activity ◽  
Duct Syndrome

An unusual case of undescended testis: type II persistent Müllerian duct syndrome

Pathology ◽  
2019 ◽  
Vol 51 (3) ◽  
pp. 335-336
Author(s):  
Wai Chee Lo ◽  
Kwok Leung Ng ◽  
Kam Chi Teresa Tsui ◽  
Wai Yan Candy Ng ◽  
Yuet Ping Liz Yuen
Keyword(s):  
Unusual Case ◽  
Undescended Testis ◽  
Mullerian Duct ◽  
Type Ii ◽  
Müllerian Duct ◽  
Persistent Müllerian Duct Syndrome ◽  
Persistent Mullerian Duct Syndrome ◽  
Duct Syndrome

Persistent Mullerian duct syndrome: rare presentation in an elderly man

2020 ◽  
Vol 13 (7) ◽  
pp. e234890
Author(s):  
Darshil Sunilbhai Shah ◽  
Utsav Shailesh Shah ◽  
Natarajan Kumaresan
Keyword(s):  
Autosomal Recessive ◽  
Pelvic Mass ◽  
Mullerian Duct ◽  
Fallopian Tubes ◽  
Rare Presentation ◽  
Müllerian Duct ◽  
Persistent Müllerian Duct Syndrome ◽  
Persistent Mullerian Duct Syndrome ◽  
Rare Autosomal Recessive Disease ◽  
Duct Syndrome

Persistent Mullerian duct syndrome has been described as a disease of internal male pseudohermaphroditism, a rare autosomal recessive disease, characterised by persistent Mullerian derivatives in patients with male pattern 46, XY karyotype and normal pattern virilisation. We present a case of an elderly man, who on evaluation for bilateral undescended testes was found to have a pelvic mass suggestive of malignant transformation of an undescended testis on imaging. On surgical exploration, uterus with multiple fibroids, bilateral fallopian tubes, cervix and bilateral atrophic testes were identified. Interestingly, in this case, imaging (contrastCT and MRI) had missed Mullerian structures due to varied presentation, but exploration and excision of the structures followed by their histopathology revealed uterine leiomyomas and confirmed other Mullerian structures (bilateral fallopian tubes, cervix) with bilateral testes.

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