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

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 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

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.

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
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