Persistent Müllerian duct syndrome (PMDS) is a rare, sex-limited, autosomal recessive disorder representing male pseudo-hermaphroditism. It is observed in males with the presence of female reproductive organs such as the uterus, cervix, and bilateral fallopian tubes along with normally developed male reproductive organs. It generally occurs during embryogenesis due to mutation in anti-Müllerian hormone (AMH) gene, i.e., AMH gene or AMH receptor (AMHR2) gene. The present case reports a male infant with inflammation in the right groin who was admitted to Security Forces Hospital in 2015. During surgery, his testis was pulled down to the scrotum in the normal anatomical position, but full orchidopexy was not performed due to fragile capsule and edematous area. After a year, a right orchidopexy was performed. During left testis laparoscopic exploration, a small left intra-abdominal gonad in a position similar to the ovary, Müllerian structures in the form of a small uterus and vagina in the midline were observed. Biopsy of left gonad showed immature testicular tissues. The MRI findings of the pelvis showed normal male urethra with the presence of a vagina and small uterus, but no definite ovaries or testicle. Based on the clinical, laboratory, imaging, and primarily operative findings, the boy was diagnosed with PMDS. This was confirmed using genetic testing, which revealed biallelic mutations in the AMHR2 gene. The patient is currently under clinical observation to decide further management of PMDS through left testis orchidopexy, either with or without surgical excision of persistent Müllerian duct structures. The key message, which needs to be spread from this case report, is that the infant with bilateral undescended testes or inguinal hernia on one side and cryptorchidism on the other side should be thoroughly investigated to exclude any underlying disorder of sex development (DSD) before any further intervention.


Keywords: Anti-Müllerian hormone; disorder of sex development; orchidopexy; laparoscopy
» HTML Fulltext    » PDF Fulltext    » doi: 10.19082/3395
nike sbAsics Onitsuka Tiger

Current Issue

Volume 12, Issue 4, October-December 2020



The worldwide spread of COVID-19 as an emerging, rapidly evolving situation, and the dramatic need of urgent medicine or vaccine, has rapidly brought new hypotheses for pathophysiology and potential medicinal agents to the fore. It is crucial that the research community provide a way to publish this research in a timely manner.

To contribute to this important public health discussion, the Electronic Physician Journal is excited to announce a fast-track procedure to help researchers publish their articles on COVID-19 related subjects that fall under the broad definition of public health, internal medicine, and pharmacology. We are especially welcome to all hypotheses about the pathological basis of the COVID-19 infection and the possible characteristics of potential medicine and vaccine. Submit your manuscript here


The 6th World Conference on Research Integrity (WCRI) is to be held on June 2-5, 2019 in Hong Kong.

The WCRI is the largest and most significant international conference on research integrity. Since the first conference in Lisbon in 2007, it has given researchers, teachers, funding agencies, government officials, journal editors, senior administrators, and research students opportunities to share experiences and to discuss and promote integrity in research. Read more:


TDR Clinical Research and Development Fellowships

Call for applications

Deadline for submission: 7 March 2019, 16:00 (GMT)

TDR provides fellowships for early- to mid-career researchers and clinical trial staff (e.g. clinicians, pharmacists, medical statisticians, data managers, other health researchers) in low- and middle-income countries (LMICs) to learn how to conduct clinical trials. Read more:

Meta-Analysis Workshops in New York, USA, and London, UK, in April and May 2019

Don't miss this exceptional opportunity to learn how to perform and report a Meta-analysis correctly. Two Meta-analysis workshops are organized in April and May 2019 by Dr. Michael Borenstein in New York, USA (April 08-10, 2019) and London, UK (May 27-29).

About the Instructor

Dr. Michael Borenstein, one of the authors of Introduction to Meta-Analysis, is widely recognized for his ability to make statistical concepts accessible to researchers as well as to statisticians. He has lectured widely on meta-analysis, including at the NIH, CDC, and FDA. Read more: