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

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

Orchiectomy and Hysterectomy for Persistent Müllerian Duct Syndrome Associated-Seminoma in a 35-Year-Old Father: A Rare Case Report

2021 ◽  
Author(s):  
Marah Mansour ◽  
Abdullah Fattal ◽  
Yassamine Ouerdane ◽  
Tamim Alsuliman ◽  
Omar Kanjawi
Keyword(s):  
Undescended Testis ◽  
Exploratory Laparotomy ◽  
Normal Male ◽  
Mullerian Duct ◽  
Müllerian Duct ◽  
Persistent Müllerian Duct Syndrome ◽  
Persistent Mullerian Duct Syndrome ◽  
Rare Case Report ◽  
The Right ◽  
Duct Syndrome

Abstract Background A persistent Müllerian duct syndrome is a rare disorder of sexual differentiation characterized by the presence of the female reproductive system in a normal male. Case presentation Herein, we report a case of a 35-year-old father with the persistent Müllerian duct syndrome and seminoma in the right undescended testis. The exploratory laparotomy was performed and revealed a mass in the right undescended testis and Müllerian duct structures. Conclusions For patients with cryptorchidism and inguinal hernia, the persistent Müllerian duct syndrome should be considered, and radiological evaluation of the genitourinary system is recommended for early diagnosis of persistent Müllerian duct syndrome. The persistent Müllerian duct syndrome is usually detected during surgical operation, and it is considered a risk factor for developing testicular malignancies.

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 Mullerian ducts derivatives in abdominal cryptorchism in children

2021 ◽  
Vol 22 (4) ◽  
pp. 77-85
Author(s):  
S. L. Kovarsky ◽  
Yu. V. Petrukhina ◽  
S. P. Blokh ◽  
A. I. Zakharov ◽  
A. A. Bebenina
Keyword(s):  
Sex Determination ◽  
Single Step ◽  
Normal Male ◽  
Mullerian Duct ◽  
Study Objective ◽  
Müllerian Duct ◽  
Persistent Müllerian Duct Syndrome ◽  
Persistent Mullerian Duct Syndrome ◽  
Mullerian Ducts ◽  
Duct Syndrome

Disorder of sex determination is a condition associated with clinical and biochemical discrepancy between genetic, gonadal, and phenotypic sex of a child requiring detailed examination for final selection of sex. Indications for sex determination can arise both in infancy and during puberty. Several conditions pertaining to abnormal sex differentiation are manifested as normal male genitalia with Mullerian ducts derivatives.The study objective is to present clinical observations of children with persistent Mullerian duct syndrome.The study presents 2 clinical cases of children with disorders of sex determination. Both children were initially hospitalized at the surgical facility with cryptorchism diagnosis, Mullerian duct derivatives were found intraoperatively. During examination of the children (karyotyping, histological and immunohistochemical examination) in one case persistent Mullerian duct syndrome was diagnosed, in the other - chromosomal abnormality of sex formation (45,X/46,XY), mixed dysgenesis of the gonads.If Mullerian duct derivatives are found during diagnostic laparoscopy, resection biopsy of the ambiguous gonad and intraoperative single-step urethrocystoscopy for visualization of the seminal colliculus and catherization of the uterus for its identification from the abdominal side should be performed. Further examination includes karyotyping, hormonal examination, consultations with an endocrinologist and a geneticist, and genetic examination if necessary.

scholarly journals A 35-year-old father with persistent Mullerian duct syndrome and seminoma of the right undescended testis: a rare case report

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Marah Mansour ◽  
Abdullah Fattal ◽  
Yassamine Ouerdane ◽  
Tamim Alsuliman ◽  
Omar Kanjawi
Keyword(s):  
Undescended Testis ◽  
Exploratory Laparotomy ◽  
Normal Male ◽  
Mullerian Duct ◽  
Müllerian Duct ◽  
Persistent Müllerian Duct Syndrome ◽  
Persistent Mullerian Duct Syndrome ◽  
Rare Case Report ◽  
The Right ◽  
Duct Syndrome

Abstract Background A persistent Müllerian duct syndrome is a rare disorder of sexual differentiation characterized by the presence of the female reproductive system in a normal male. Case presentation Herein, we report a case of a 35-year-old father with persistent Müllerian duct syndrome and seminoma in the right undescended testis. The exploratory laparotomy was performed and revealed a mass in the right undescended testis and Müllerian duct structures. Conclusions For patients with cryptorchidism and inguinal hernia, the persistent Müllerian duct syndrome should be considered, and radiological evaluation of the genitourinary system is recommended for early diagnosis of persistent Müllerian duct syndrome. The persistent Müllerian duct syndrome is usually detected during a surgical operation, and it is considered a risk factor for developing testicular malignancies.

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