scholarly journals Persistent Mullerian Duct Syndrome in a Man with Unilateral Cryptorchidism : A Case Report

2021 ◽  
Vol 15 (6) ◽  
pp. 2037-2038
Author(s):  
Azarabadi M ◽  
Heydari S ◽  
Rouhani S ◽  
Ghane Ezabadi M
Keyword(s):  
Inguinal Canal ◽  
Type I ◽  
Mullerian Duct ◽  
Rare Form ◽  
Müllerian Duct ◽  
Persistent Müllerian Duct Syndrome ◽  
Persistent Mullerian Duct Syndrome ◽  
Normal Man ◽  
Unilateral Cryptorchidism ◽  
Duct Syndrome

Introduction: Persistent Mullerian duct syndrome is a rare form of male pseudo-hermaphroditism characterized by the presence of Mullerian duct structures in an otherwise phenotypically, as well asgenotypically, normal man; only a few cases have been reported in the worldwide literature. A greatvariety of organs have been found in indirect inguinal hernial sacs. Case presentation: We report a case of 28 year old man, father of 2 children with unilateral cryptorchidism on the left side and testis and painful left groin mass. we found uterine tissue extending through the inguinal canal. Conclusions : PMDS is a rare form of male pseudo-hermaphroditism characterized by the presence of Mullerian duct structures in an otherwise phenotypically, as well as genotypically, normal man. Hernia uteri inguinalis is type I of the male form of PMDS, characterized by one descended testis and the herniation of the ipsilateral corner of the uterus and fallopian tube into the inguinal canal. Keywords: mullerian duct syndrome, cryptorchidism

Atypical Clinical Presentation of Persistent Müllerian Duct Syndrome in Siblings

2021 ◽  
pp. 1-6
Author(s):  
Evgenia Globa ◽  
Nataliya Zelinska ◽  
Nina Siryk ◽  
Anu Bashamboo ◽  
Kenneth McElreavey
Keyword(s):  
Genetic Diagnosis ◽  
Autosomal Recessive Disorder ◽  
Normal Male ◽  
Compound Heterozygous ◽  
Mullerian Duct ◽  
Müllerian Duct ◽  
Persistent Müllerian Duct Syndrome ◽  
Persistent Mullerian Duct Syndrome ◽  
Bilateral Cryptorchidism ◽  
Duct Syndrome

Persistent Müllerian duct syndrome (PMDS) is a rare autosomal recessive disorder characterized by the lack of regression of the derivatives of the Müllerian ducts in males. Boys with this condition usually present with unilateral or bilateral cryptorchidism, inguinal hernias, and reproductive disorders with normal male genitalia. Variants in the AMH or AMHR2 genes are responsible for the development of this syndrome. The genetic diagnosis and surgery in PMDS is challenging for both the endocrinologist and the urologist. Here, we describe the management of 2 siblings from 1 family who presented with bilateral cryptorchidism and hypospadias at birth. One child had testis located in the pelvis in the position of normal ovaries, while the other child had testis which were located in the inguinal canals (bilateral inguinal cryptorchidism). Exome sequencing revealed a compound heterozygous variant in the AMHR2 gene c.1388G>A, p.R463H and c.1412G>A p.R471H. To our knowledge, hypospadias has not been described in association with PMDS.

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

Clinical aspects and molecular genetics of the persistent Müllerian duct syndrome

1997 ◽  
Vol 47 (2) ◽  
pp. 137-144 ◽  
Author(s):  
Nathalie Josso ◽  
Jean-Yves Picard ◽  
Sandrine Imbeaud ◽  
Nathalie di Clemente ◽  
Rodolfo Rey
Keyword(s):  
Molecular Genetics ◽  
Clinical Aspects ◽  
Mullerian Duct ◽  
Müllerian Duct ◽  
Persistent Müllerian Duct Syndrome ◽  
Persistent Mullerian Duct Syndrome ◽  
Duct Syndrome

scholarly journals Persistent Mullerian Duct Syndrome (PMDS) Presenting as a Malignant Tumour

2018 ◽  
Vol 30 (1) ◽  
pp. 38-40
Author(s):  
Md Rafiqul Islam ◽  
Md Showkat Ali ◽  
SM Golam Azam
Keyword(s):  
Inguinal Hernia ◽  
Malignant Tumour ◽  
Mullerian Duct ◽  
Müllerian Duct ◽  
Persistent Müllerian Duct Syndrome ◽  
Ectopic Testis ◽  
Persistent Mullerian Duct Syndrome ◽  
Bilateral Cryptorchidism ◽  
Normal Man ◽  
Duct Syndrome

Persistent Mullerian duct syndrome is a condition in which there is presence of Mullerian duct structures (uterus, fallopian tube, vagina etc.) in an otherwise phenotypically, as well as genotypically, normal man. This patient usually presents with unilateral or bilateral cryptorchidism associated with inguinal hernia and ectopic testis. There is the chance of developing malignancy in ectopic testis (incidence being 15%), as well as infertility in case of bilateral cryptorchidism. Our patient suffers from PMDS presents with malignant tumour. The aim of the presentation of this case is to draw the attention in case of unilateral or bilateral cryptorchidism associated with or without inguinal hernia; the possibility of PMDS should be kept in mind to prevent infertility as well as malignancy.Medicine Today 2018 Vol.30(1): 38-40

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