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

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.

scholarly journals Bilateral Cryptorchidism, a rare presentation for persistent Müllerian duct syndrome

10.19082/3395 ◽  
2016 ◽  
Vol 8 (12) ◽  
pp. 3395-3397 ◽  
Author(s):  
Abdullah Al-Faris ◽  
Mosleh Jabari ◽  
Mohammed Al-Sayed ◽  
Hassan Al-Shhri
Keyword(s):  
Mullerian Duct ◽  
Rare Presentation ◽  
Müllerian Duct ◽  
Persistent Müllerian Duct Syndrome ◽  
Persistent Mullerian Duct Syndrome ◽  
Bilateral Cryptorchidism ◽  
Duct Syndrome

Persistent Müllerian Duct Syndrome: A Rare But Important Etiology of Inguinal Hernia and Cryptorchidism

2019 ◽  
Vol 13 (5-6) ◽  
pp. 264-270
Author(s):  
Fuat Bugrul ◽  
Zehra Yavas Abali ◽  
Tarik Kirkgoz ◽  
Kivilcim K. Cerit ◽  
Arzu Canmemis ◽  
...  
Keyword(s):  
Inguinal Hernia ◽  
Mullerian Duct ◽  
Loss Of Function ◽  
Müllerian Duct ◽  
Persistent Müllerian Duct Syndrome ◽  
Persistent Mullerian Duct Syndrome ◽  
Genes Encoding ◽  
Long Term Follow Up ◽  
Duct Syndrome

Homozygous loss of function mutations in genes encoding anti-Müllerian hormone (<i>AMH</i>) or its receptor (<i>AMHRII</i>) lead to persistent Müllerian duct syndrome (PMDS). PMDS is characterized by the presence of a uterus, fallopian tubes, cervix, and upper vagina in fully virilised 46,XY males. Both surgical management and long-term follow-up of these patients are challenging. Four cases with PMDS presented with cryptorchidism and inguinal hernia, and laparoscopic inguinal exploration revealed Müllerian remnants. Three of the patients had homozygous mutations in the <i>AMH</i> gene, one with a novel c.1673G>A (p.Gly558Asp) mutation, and one patient had an <i>AMHRII</i> mutation. All patients underwent a single-stage laparotomy in which the fundus of the uterus was split along the midline to release testes and to avoid damaging the vas deferens or the deferential artery. Biopsy of Müllerian remnants did not reveal any malignancy. The cases presented here expand the clinical and molecular presentation of PMDS. Cryptorchidism and inguinal hernia in the presence of Müllerian structures in an appropriately virilised 46,XY individual should suggest PMDS. Long-term reproductive and endocrinological surveillance is necessary.

scholarly journals Persistent Mullerian duct syndrome and bilateral cryptorchidism

2021 ◽  
pp. 101846
Author(s):  
Marjan Joudi ◽  
Mehdi fathi ◽  
Seyed Hassan Seyed Sharifi ◽  
Reza Nazaezadeh ◽  
Mohammad Mehdi zarif soltani
Keyword(s):  
Mullerian Duct ◽  
Müllerian Duct ◽  
Persistent Müllerian Duct Syndrome ◽  
Persistent Mullerian Duct Syndrome ◽  
Bilateral Cryptorchidism ◽  
Duct Syndrome

scholarly journals Indirect inguinal hernia with uterine tissue in a male: A case of persistent Mullerian duct syndrome and literature review

2013 ◽  
Vol 7 (1-2) ◽  
pp. 121 ◽  
Author(s):  
Michael Ahdoot ◽  
Motaz Qadan ◽  
Monica Santa-Maria ◽  
William A. Kennedy II ◽  
Aaron Ilano
Keyword(s):  
Inguinal Hernia ◽  
External Genitalia ◽  
Indirect Inguinal Hernia ◽  
Mullerian Duct ◽  
Uterine Tissue ◽  
Müllerian Duct ◽  
Persistent Müllerian Duct Syndrome ◽  
Congenital Insensitivity ◽  
Persistent Mullerian Duct Syndrome ◽  
Duct Syndrome

A 32-year-old male presenting with a direct inguinal hernia was found to have uterine tissue extending through the inguinal canal, warranting a diagnosis of persistent Mullerian duct syndrome (PMDS). PMDS is an extremely rare form of internal male pseudo-hermaphroditism in which female internal sex organs, including the uterus, cervix and proximal vagina, persist in a 46XY male with normal external genitalia. The condition results from a congenital insensitivity to anti-Mullerian hormone, or lack of anti-Mullerian hormone, leading to persistence of the female internal sex organsin a male. Clinically, this condition is associated with cryptochoridism. Controversy persists regarding the appropriate treatment of PMDS, since resection of the remnant structures is associated with potential morbidity, but retention risks development of occasional malignancies. We review the literature and discuss various aspects of pathophysiology, diagnosis, and management of PMDS.

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