Learn About Persistent Mullerian Duct Syndrome
Persistent Müllerian duct syndrome is a disorder of sexual development that affects males. Males with this disorder have normal male reproductive organs, though they also have a uterus and fallopian tubes, which are female reproductive organs. The uterus and fallopian tubes are derived from a structure called the Müllerian duct during development of the fetus. The Müllerian duct usually breaks down during early development in males, but it is retained in those with persistent Müllerian duct syndrome. Affected individuals have the normal chromosomes of a male (46,XY) and normal external male genitalia.
Most people with persistent Müllerian duct syndrome have mutations in the AMH gene or the AMHR2 gene. The AMH gene provides instructions for making a protein called anti-Müllerian hormone (AMH). The AMHR2 gene provides instructions for making a protein called AMH receptor type 2.
Persistent Müllerian duct syndrome is a rare disorder; however, the prevalence of the condition is unknown.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. However, persistent Müllerian duct syndrome affects only males. Females with two mutated copies of the gene do not show signs and symptoms of the condition.
Inas Mazen practices in Cairo, Egypt. Ms. Mazen is rated as an Elite expert by MediFind in the treatment of Persistent Mullerian Duct Syndrome. Her top areas of expertise are Persistent Mullerian Duct Syndrome, Intersex, Swyer Syndrome, and Turner Syndrome.
Jean-yves Picard practices in Paris, France. Picard is rated as an Elite expert by MediFind in the treatment of Persistent Mullerian Duct Syndrome. Their top areas of expertise are Persistent Mullerian Duct Syndrome, Undescended Testicle, Intersex, and Hernia.
Johns Hopkins Health Care & Surgery Center - Green Spring Station, Lutherville
Chad Crigger, M.D., M.P.H., is a pediatric urologist at Johns Hopkins Children’s Center and an assistant professor of urology at the Johns Hopkins Brady Urological Institute. He also serves as the Associate Program Director of the Urology Residency Program. After growing up in Charleston, West Virginia, Dr. Crigger attended the University of Richmond, where he majored in biology. After college, he returned home to West Virginia and obtained his medical doctorate from Marshall University and a master’s in public health from West Virginia University. He then completed an internship in general surgery and a residency in urologic surgery at West Virginia Ruby Memorial Hospital, where he was drawn to pediatric urology, particularly the reconstructive aspects that draw on principles from several fields including pediatric plastic surgery. This, and a chance visiting professorship by John Gearhart, M.D., inspired Dr. Crigger to pursue training in major reconstructive pediatric urology at Johns Hopkins, where he completed a fellowship. Relying on his background as a camp counselor, Dr. Crigger makes his patients active participants in their care whenever possible, often through sketching their condition. He is a member of multiple professional societies, including the American Urological Association and the American College of Surgeons. A researcher and director of pediatric urology research, he has published more than 50 articles in major journals and contributed to over 20 book chapters on pediatric urology. Dr. Crigger’s research focuses on his passion for major congenital anomalies, particularly the exstrophy-epispadias complex, about which he has multiple projects spanning the basic and clinical sciences. Additionally, with extensive training in robotic surgery, Dr. Crigger serves as director of robotic surgery for pediatric urology. His team looks for ways to safely apply the robotic surgery platform, including single port surgery, when feasible. His philosophy in practicing medicine is simple: to “provide the greatest benefit through the most up-to-date and least morbid treatment options possible.” Regarding providing care for patients and working with families, his focus is singular. When talking with parents, he can often be heard saying, “I know that, whether I am performing surgery or offering my professional recommendation, I am caring for one of the most important people in your life. I take that responsibility seriously and will do my very best to deliver the highest level of care possible.” Videos Chad Crigger, M.D.Pediatric Urologist. Dr. Crigger is rated as a Distinguished provider by MediFind in the treatment of Persistent Mullerian Duct Syndrome. His top areas of expertise are Exstrophy of the Bladder, Cloacal Exstrophy, Exstrophy-Epispadias Complex, Osteotomy, and Bladder Reconstruction.
Published Date: March 01, 2011
Published By: National Institutes of Health