Persistent Müllerian duct syndrome, bilateral undescended testes, torsed left testicular tumor

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.

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

Pathology ◽

10.1016/j.pathol.2018.10.023 ◽

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

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Clinical Aspects and Molecular Genetics of Persistent Müllerian Duct Syndrome Associated with Transverse Testicular Ectopia: Report of Three Cases

Urologia Internationalis ◽

10.1159/000339599 ◽

2013 ◽

Vol 90 (1) ◽

pp. 83-86 ◽

Cited By ~ 3

Author(s):

Xiaobing Ju ◽

ZhongXing Li ◽

Chao Zhang ◽

Chao Qin ◽

Pengfei Shao ◽

...

Keyword(s):

Molecular Genetics ◽

Clinical Aspects ◽

Mullerian Duct ◽

Müllerian Duct ◽

Transverse Testicular Ectopia ◽

Persistent Müllerian Duct Syndrome ◽

Persistent Mullerian Duct Syndrome ◽

Testicular Ectopia ◽

Duct Syndrome

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Clinical aspects and molecular genetics of the persistent Müllerian duct syndrome

Clinical Endocrinology ◽

10.1046/j.1365-2265.1997.2411044.x ◽

1997 ◽

Vol 47 (2) ◽

pp. 137-144 ◽

Cited By ~ 49

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

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

Medicine Today ◽

10.3329/medtoday.v30i1.35565 ◽

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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