Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Nathalie Josso, MD, PhD, 1934-2022.

Hormone research in paediatrics·2023
Same author

A novel mutation in the AMHR2 gene, resulting in persistent Müllerian duct syndrome presenting with bilateral cryptorchidism and obstructed inguinal hernia.

Journal of pediatric endocrinology & metabolism : JPEM·2023
Same author

Editorial: Fetal testicular hormones.

Frontiers in endocrinology·2022
Same author

Persistent Müllerian duct syndrome associated with genetic defects in the regulatory subunit of myosin phosphatase.

Human reproduction (Oxford, England)·2022
Same author

Genetics of anti-Müllerian hormone and its signaling pathway.

Best practice & research. Clinical endocrinology & metabolism·2022
Same author

What Does AMH Tell Us in Pediatric Disorders of Sex Development?

Frontiers in endocrinology·2020

Related Experiment Video

Updated: Dec 26, 2025

Laparoscopic Oocyte Retrieval and Cryopreservation during Vaginoplasty for Treatment of Mayer-Rokitansky-Kuster-Hauser Syndrome
11:53

Laparoscopic Oocyte Retrieval and Cryopreservation during Vaginoplasty for Treatment of Mayer-Rokitansky-Kuster-Hauser Syndrome

Published on: May 10, 2022

4.0K

Persistent Müllerian duct syndrome: an update.

Jean-Yves Picard1, Nathalie Josso2

  • 1INSERM UMRS 938, Centre de Recherche Saint Antoine, 27, rue Chaligny, 75571 Paris Cedex 12, France; and Faculté de Médecine Sorbonne Université, 27, rue Chaligny, 75571 Paris Cedex 12, France; and Corresponding author.

Reproduction, Fertility, and Development
|March 17, 2020
PubMed
Summary

Persistent Müllerian duct syndrome (PMDS) in males results from mutations in anti-Müllerian hormone (AMH) or its receptor (AMHR2). This review details PMDS presentations, associated risks like testicular cancer, and genetic findings in affected families.

More Related Videos

Author Spotlight: Advanced Treatment of Seminal Duct Blockage Employing Endoscopy-Mediated Semen Channel Refluviation
03:51

Author Spotlight: Advanced Treatment of Seminal Duct Blockage Employing Endoscopy-Mediated Semen Channel Refluviation

Published on: December 8, 2023

4.2K
Isolation of Intact, Whole Mouse Mammary Glands for Analysis of Extracellular Matrix Expression and Gland Morphology
12:49

Isolation of Intact, Whole Mouse Mammary Glands for Analysis of Extracellular Matrix Expression and Gland Morphology

Published on: October 30, 2017

17.7K

Related Experiment Videos

Last Updated: Dec 26, 2025

Laparoscopic Oocyte Retrieval and Cryopreservation during Vaginoplasty for Treatment of Mayer-Rokitansky-Kuster-Hauser Syndrome
11:53

Laparoscopic Oocyte Retrieval and Cryopreservation during Vaginoplasty for Treatment of Mayer-Rokitansky-Kuster-Hauser Syndrome

Published on: May 10, 2022

4.0K
Author Spotlight: Advanced Treatment of Seminal Duct Blockage Employing Endoscopy-Mediated Semen Channel Refluviation
03:51

Author Spotlight: Advanced Treatment of Seminal Duct Blockage Employing Endoscopy-Mediated Semen Channel Refluviation

Published on: December 8, 2023

4.2K
Isolation of Intact, Whole Mouse Mammary Glands for Analysis of Extracellular Matrix Expression and Gland Morphology
12:49

Isolation of Intact, Whole Mouse Mammary Glands for Analysis of Extracellular Matrix Expression and Gland Morphology

Published on: October 30, 2017

17.7K

Area of Science:

  • Endocrinology
  • Genetics
  • Reproductive Medicine

Background:

  • Male sex differentiation relies on testosterone and anti-Müllerian hormone (AMH) for Müllerian duct regression.
  • Mutations in AMH or AMH receptor type 2 (AMHR2) cause persistent Müllerian duct syndrome (PMDS) in 46,XY males.

Purpose of the Study:

  • To review clinical presentations, genetic causes, and outcomes of persistent Müllerian duct syndrome.
  • To analyze mutations in AMH and AMHR2 genes associated with PMDS.

Main Methods:

  • Review of published cases and 157 personal cases of PMDS.
  • Analysis of genetic mutations in AMH and AMHR2 genes.

Main Results:

  • PMDS presents as bilateral cryptorchidism, unilateral cryptorchidism with hernia, or transverse testicular ectopia.
  • Testicular malignant degeneration occurs in 33% of adult PMDS patients; Müllerian derivative cancer is less frequent.
  • AMH gene mutations identified in 81 families; AMHR2 mutations in 79 families. 12% of cases had no identified AMH or AMHR2 mutations.

Conclusions:

  • PMDS is linked to AMH/AMHR2 dysfunction, with significant risks of testicular cancer and infertility.
  • Genetic analysis reveals diverse mutations in AMH and AMHR2, with some cases indicating other genetic pathways.
  • Early diagnosis and management are crucial for fertility preservation and cancer surveillance in PMDS patients.