Persistent Müllerian Duct Syndrome

2020 ◽  
pp. 269-277
Author(s):  
Robert A. Petrossian ◽  
Nicholas N. Tadros
Keyword(s):  
Mullerian Duct ◽  
Müllerian Duct ◽  
Persistent Müllerian Duct Syndrome ◽  
Persistent Mullerian Duct Syndrome ◽  
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.

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

scholarly journals Persistent Mullerian Duct Syndrome with Polysplenia and Short Pancreas: A Case Report

2019 ◽  
Vol 57 (216) ◽  
Author(s):  
Umesh Kumar Sharma ◽  
Dinesh Kumar Thapa ◽  
Dinesh Pokhrel ◽  
Amit Kumar Shah
Keyword(s):  
Soft Tissue ◽  
Mullerian Duct ◽  
Tissue Mass ◽  
Müllerian Duct ◽  
Müllerian Inhibiting Substance ◽  
Persistent Müllerian Duct Syndrome ◽  
Persistent Mullerian Duct Syndrome ◽  
Short Pancreas ◽  
Duct Syndrome ◽  
Mullerian Inhibiting Substance

Persistent Mullerian duct syndrome is a rare entity and usually presents with common symptoms of undescended testis and hernia. The syndrome is caused by an insufficient amount of Mullerian inhibiting substance or due to the insensitivity of the target organ to Mullerian inhibiting substance. Polysplenia is a rare congenital disease manifested by multiple small accessory spleens. The association of these two entities is rare and has not been reported in the literature. We reported a case of a 27 years old male presented with complains of right flank pain and nausea. Ultrasound showed right ureteric calculus with hydronephrosis and elongated soft tissue mass posterior to bladder. Contrast enhanced Computed Tomography showed soft tissue suggestive of infantile uterine structure with multiple splenculi and short pancreas. He was diagnosed as Persistent Mullerian duct syndrome with unilateral cryptorchidism, polysplenia and short pancreas, coincidentally detected while evaluating for ureteric colic.

Sign in / Sign up

Export Citation Format

Share Document