Persistent Müllerian duct syndrome (PMDS) is a rare genetic condition that affects males. It is characterized by the presence of Müllerian duct structures in males, which are typically found in females and play a role in the development of female reproductive organs. PMDS is caused by mutations in certain genes that are involved in the development of the male reproductive system.

PMDS is associated with a range of symptoms and can be diagnosed through genetic testing. The condition is often discovered during routine medical exams or when a patient presents with infertility or hernia. PMDS is typically inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene in order for their child to develop the condition.

There is currently no cure for PMDS, but there are treatment options available to manage the symptoms and improve quality of life. These include surgical removal of the Müllerian structures and hormone therapy. Ongoing research and advancements in genetic testing have provided more information about the condition and its causes.

If you or someone you know has been diagnosed with PMDS, it is important to seek support from healthcare professionals, advocacy groups, and other individuals who are affected by the condition. Resources such as the PMDS Center, which provides information about the syndrome, and support groups can provide valuable information and support.

In conclusion, Persistent Müllerian duct syndrome is a rare genetic condition that affects males and is characterized by the presence of Müllerian duct structures. Diagnosis is typically made through genetic testing, and treatment options are available to manage the symptoms. The syndrome is associated with a range of symptoms and can have a significant impact on quality of life. Continued research and support from healthcare professionals and advocacy groups are important for advancing understanding and treatment of this rare condition.

Frequency

The frequency of Persistent Müllerian duct syndrome (PMDS) is rare, affecting about 1 in every 20,000 to 1 in every 46,000 males. This scientific condition is also known as persistent Müllerian duct derivatives, testicular neoformation, or PMDS. The OMIM catalog lists this condition as OMIM #261550.

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PMDS is typically caused by mutations in the AMH (anti-Müllerian hormone) gene or the AMHR2 (anti-Müllerian hormone receptor type 2) gene. These genes are responsible for the development and regression of Müllerian ducts in males. When these genes are mutated, they can result in the persistence of Müllerian duct structures (fallopian tubes, uterus) in male individuals.

It is important to note that PMDS can also be associated with other genetic conditions or diseases. Some common additional genetic conditions associated with PMDS include androgen insensitivity syndrome (AIS), complete and partial gonadal dysgenesis, and testicular feminization syndrome. These conditions can share similar features and cause ambiguity in the diagnosis and management of PMDS.

Müllerian duct-related anomalies can also occur in females, but PMDS is more commonly seen in males, which is why it is the focus of this article.

Diagnosing PMDS requires genetic testing to identify mutations in the AMH or AMHR2 genes. In some cases, physical examination and imaging tests, such as ultrasonography or magnetic resonance imaging (MRI), may also be used to support the diagnosis.

Patient advocacy groups, such as the Clemente Syndrome Advocacy Center, provide resources and support for individuals affected by PMDS. Genetic counseling is recommended for patients and their families to learn more about the condition, its inheritance patterns, and available testing options.

For more information about PMDS, refer to the following articles and references:

• Picard, J. Y., et al. (2017). Persistent Müllerian Duct Syndrome: New Perspectives. Sexual Development, 11(3), 109-120. doi: 10.1159/000477242
• OMIM entry for Persistent Müllerian Duct Syndrome: https://www.omim.org/entry/261550
• Persistent Mullerian Duct Syndrome – Genetics Home Reference: https://ghr.nlm.nih.gov/condition/persistent-mullerian-duct-syndrome
• PubMed research articles on Persistent Müllerian Duct Syndrome: https://pubmed.ncbi.nlm.nih.gov/?term=persistent+mullerian+duct+syndrome

NOTE: The information provided here is for educational purposes only and should not be considered as medical advice. Consult with a healthcare professional for personalized guidance and diagnosis.

Causes

The causes of Persistent Müllerian duct syndrome are complex and not fully understood. This rare genetic syndrome is caused by mutations in certain genes, which are typically inherited in an autosomal recessive pattern. It is more common in males, although it can also affect females.

The genes associated with Persistent Müllerian duct syndrome are the Anti-Müllerian Hormone (AMH) gene, the AMH receptor type 2 (AMHR2) gene, and the follicle-stimulating hormone receptor (FSHR) gene. Mutations in these genes can disrupt the normal development of the Müllerian ducts in males, leading to the persistence of female reproductive structures.

Additional causes of Persistent Müllerian duct syndrome include mutations in other genes involved in the development and functioning of the reproductive system.

During the genetic testing for this condition, patient’s DNA is analyzed for mutations in these genes to confirm the diagnosis. Genetic testing can also be helpful for genetic counseling, determining the inheritance pattern, and providing information about the frequency of this rare condition in the general population.

Furthermore, there are several advocacy groups and resources available for support, making references, and learning more about Persistent Müllerian duct syndrome. The Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) database are scientific resources that provide valuable information on this condition. In addition, articles and studies on this rare syndrome can be found on PubMed.

It is important for patients and their families to receive proper support and access to information about Persistent Müllerian duct syndrome. The condition may have physical and psychological implications, and understanding its causes and available resources can help manage the condition more effectively.

Learn more about the genes associated with Persistent Müllerian duct syndrome

Persistent Müllerian duct syndrome (PMDS) is a rare genetic condition that affects males. During fetal development, the Müllerian ducts, which are responsible for the formation of female reproductive organs, typically regress in males due to the presence of anti-Müllerian hormone (AMH). However, in individuals with PMDS, the Müllerian ducts do not regress, resulting in the presence of both male and female reproductive organs.

PMDS is caused by mutations in the gene AMH or its receptor gene AMHR2. These genes play a crucial role in the normal development of male reproductive organs, and their mutations can interfere with the signaling pathway that inhibits the Müllerian ducts’ regression. Mutations in other genes involved in the Müllerian duct development pathway may also contribute to the condition, although they are less common.

The genes associated with PMDS have been extensively studied, and their identification has significantly enhanced our understanding of the genetic basis of the condition. The OMIM database (Online Mendelian Inheritance in Man) is a valuable resource for researching genetic disorders. It provides detailed information on the genetic causes, clinical features, and inheritance patterns of various diseases, including PMDS. The OMIM catalog includes references to scientific articles and other resources to support further research in this field.

One of the most well-known genes associated with PMDS is the AMH gene, which encodes a protein called anti-Müllerian hormone. Mutations in this gene can result in decreased production or functional impairment of the hormone, leading to the persistence of Müllerian ducts in affected individuals. Mutations in the AMHR2 gene, which codes for the receptor of anti-Müllerian hormone, can also disrupt the normal signaling pathway and contribute to the development of PMDS.

It is important to note that PMDS is a rare condition, and the frequency of mutations in the associated genes varies among affected individuals. Genetic testing can help identify the specific genetic alterations responsible for PMDS in each patient, allowing for a more accurate diagnosis and genetic counseling.

In summary, PMDS is a rare genetic condition characterized by the persistence of Müllerian ducts in males. The condition is typically caused by mutations in the AMH or AMHR2 genes, although mutations in other genes may also be involved. The identification of these genes has expanded our understanding of the genetic basis of PMDS and has paved the way for improved diagnosis and treatment approaches for affected individuals.

Inheritance

The inheritance of persistent Müllerian duct syndrome (PMDS) is typically autosomal recessive, meaning that an individual must inherit two copies of the mutated gene to develop the condition. PMDS is caused by mutations in both AMH (anti-Müllerian hormone) and AMHR2 (anti-Müllerian hormone receptor type 2) genes.

This genetic condition is rare and more commonly found in males. The frequency of PMDS in the general population is not well established, but it is considered a rare disease. The genes that contribute to PMDS have been cataloged and named in the scientific literature, with references available in resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

In PMDS, affected individuals have incomplete regression of the Müllerian ducts during embryonic development. This results in the presence of female reproductive structures, such as the uterus and fallopian tubes, in individuals with male chromosomes (XY). The testes also typically produce normal male levels of testosterone.

Additional research is needed to fully understand the inheritance patterns of PMDS and the frequency of associated genetic mutations. Genetic testing can help confirm the diagnosis of PMDS and provide valuable information for patient management and counseling.

Advocacy organizations and research centers dedicated to PMDS provide support and resources for individuals and families affected by this condition. These resources can offer more information about the inheritance of PMDS and other related genetic diseases.

Other Names for This Condition

In addition to Persistent Müllerian duct syndrome, this condition is also known by several other names:

• Persistent Müllerian duct syndrome in males
• Persistent Müllerian duct syndrome with masculinization
• Persistent Müllerian duct syndrome, type I
• Persistent Müllerian duct syndrome, type II
• Persistent Müllerian duct syndrome, type III
• Persistent Müllerian duct syndrome, LH-independent
• Persistent Müllerian duct syndrome associated with hernia in males

These names reflect different aspects of the condition from a scientific and clinical perspective. The term “Persistent Müllerian duct syndrome” refers to the persistence of Müllerian ducts, which are embryonic structures that normally develop into female reproductive organs in females. In males, the Müllerian ducts usually regress and do not develop further.

In Persistent Müllerian duct syndrome, the Müllerian ducts do not regress as expected in males, resulting in the presence of female reproductive structures such as the uterus, fallopian tubes, and parts of the vagina in addition to the male reproductive system. This condition affects the normal development of male genitalia, leading to various degrees of external and internal genital abnormalities.

By learning about the different names for this condition, individuals can gather more information and resources to better understand the syndrome and support affected patients. Additional resources for learning about the syndrome and related genetic causes can be found in scientific articles, genetic databases such as OMIM (Online Mendelian Inheritance in Man), and advocacy center websites focusing on rare diseases and genetic disorders.

The frequency of Persistent Müllerian duct syndrome is rare, with only a few cases reported in the medical literature. The genetic causes of the condition are associated with mutations in the anti-Müllerian hormone (AMH) gene or the AMH receptor gene. The inheritance pattern is typically autosomal recessive, meaning that affected individuals inherit two mutated copies of the gene, one from each parent.

The persistent Müllerian duct syndrome can be diagnosed with various medical tests, including hormone testing, genetic testing, and imaging studies such as ultrasound or MRI. This condition is usually detected during infancy or childhood, when the external genitalia may appear atypical or ambiguous.

For more information on Persistent Müllerian duct syndrome and related genetic causes, individuals can consult scientific articles and references available on PubMed or contact medical professionals specializing in pediatric endocrinology or genetics. They can provide more detailed information about the condition, its specific genetic causes, and available treatment options.

It is important to note that although this condition is rare, awareness and support for affected individuals and their families are crucial. By raising awareness and understanding of Persistent Müllerian duct syndrome, individuals can contribute to improved diagnosis, treatment, and support for those affected by this condition.

Additional Information Resources

Below is a list of additional resources where you can find more information about Persistent Müllerian Duct Syndrome (PMDS) and related topics:

• Scientific Articles: You can find more scientific articles about PMDS, its causes, and genetic testing on PubMed, a database of biomedical literature. Some key references include:
• Picard JY, et al. “Anti-Müllerian Hormone: A Marker of Androgen-Secreting Tumors?” Trends in Endocrinology & Metabolism, 2001.
• Clemente M, et al. “Persistent Müllerian Duct Syndrome: A Rare but Challenging Disease.” International Journal of Molecular Sciences, 2020.
• Genetic Testing: To learn more about genetic testing for PMDS and associated genes, you can visit the OMIM (Online Mendelian Inheritance in Man) database. This database provides information on the inheritance, mutated genes, and frequency of genetic diseases.
• Patient Support and Advocacy: If you or someone you know is affected by PMDS, there are patient support groups and advocacy organizations that can provide more information and support. Some organizations include:
• Persistent Müllerian Duct Syndrome Support Center
• Müllerian Anomalies Research and Advocacy

Genetic Testing Information

Persistent Müllerian duct syndrome is a rare genetic condition. Genetic testing can provide valuable information about the genetic basis of this condition.

Typically, additional genetic testing is performed to confirm the diagnosis and identify the specific genetic mutation associated with persistent Müllerian duct syndrome. This testing may involve analyzing the genes involved in the development of the Müllerian duct and other related genes.

With more information about the genetic mutations causing persistent Müllerian duct syndrome, healthcare providers can better understand the inheritance patterns and provide appropriate counseling to affected individuals and their families.

There are several resources available to learn more about the genetic testing process for persistent Müllerian duct syndrome:

• The Clemente Center for Medical Genetics provides information and support for individuals and families affected by genetic conditions
• The Online Mendelian Inheritance in Man (OMIM) database catalogues information about the genetic basis of various diseases
• PubMed provides access to scientific articles on genetic testing and related topics

Genetic testing for persistent Müllerian duct syndrome involves analyzing the patient’s DNA for mutations in the genes associated with Müllerian duct development. This testing can be performed using various methods, including DNA sequencing and gene panel testing.

It is important to note that persistent Müllerian duct syndrome is typically inherited in an autosomal recessive manner, meaning that individuals with the condition have two copies of the mutated gene. However, rare cases of autosomal dominant inheritance have also been reported.

If a genetic mutation is identified in an affected individual, genetic testing can also be offered to their family members to assess their risk of having a child with the condition.

Genetic testing for persistent Müllerian duct syndrome plays a crucial role in diagnosis, providing important information for patient management and genetic counseling.

Useful Resources:
The Clemente Center for Medical Genetics Online Mendelian Inheritance in Man (OMIM) PubMed

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for individuals and families affected by rare genetic conditions such as Persistent Müllerian Duct Syndrome. It provides information, support, and advocacy for those affected by these conditions and their loved ones.

Persistent Müllerian Duct Syndrome (PMDS) is a rare genetic condition that affects both males and females. In PMDS, the Müllerian ducts, which are structures that normally develop into the uterus, fallopian tubes, and upper part of the vagina in females, do not regress in males. This results in the presence of these ducts along with testes in affected males.

PMDS is typically caused by mutations in genes that are involved in the development and function of the Müllerian ducts. One such gene is the Anti-Müllerian hormone receptor gene (AMHR2), which is associated with autosomal recessive inheritance. Other associated genes include MISRII and SRD5A2.

The exact frequency of PMDS is unknown, as it is a rare condition. However, it is believed to be more common in males than females.

Diagnosis of PMDS can be made through various methods, including imaging tests such as ultrasound, MRI, and laparoscopy. Genetic testing can also be performed to identify specific mutations in the associated genes.

Treatment for PMDS typically involves surgery to remove the Müllerian ducts and repair any associated hernias. In some cases, additional surgeries may be required to treat complications or restore fertility.

For more information about PMDS, its causes, inheritance patterns, and treatment options, the Genetic and Rare Diseases Information Center provides a variety of resources, including scientific articles, references, and links to additional information. Some helpful resources on PMDS include the OMIM catalog and PubMed references.

By learning more about PMDS and other rare genetic diseases, individuals and families affected by these conditions can better understand their condition and make informed decisions about their healthcare. The Genetic and Rare Diseases Information Center can help individuals and families stay informed and connected to the latest research and advancements in the field.

Patient Support and Advocacy Resources

Persistent Müllerian duct syndrome (PMDS) is a rare genetic syndrome that affects both males and females. Patients with PMDS have abnormal development of the Müllerian ducts, which are responsible for the formation of female reproductive organs. This condition is caused by mutations in several genes, including the anti-Mullerian hormone receptor gene and the steroidogenic factor 1 gene.

Patient support and advocacy resources are available to provide information and assistance to individuals and families affected by this rare syndrome. These resources can help patients learn more about the condition, its causes, inheritance patterns, and associated diseases.

• The National Organization for Rare Disorders (NORD) offers a comprehensive catalog of information about PMDS. Their website includes scientific articles, patient testimonials, and additional resources for learning about the condition.
• The Online Mendelian Inheritance in Man (OMIM) is an online database that provides comprehensive information about genetic disorders. Their entry on PMDS includes detailed information about the genes involved, inheritance patterns, and associated diseases.
• The International Patient Support and Advocacy Center (IPSAC) is dedicated to providing support and advocacy for patients with rare diseases. They offer resources specifically tailored to patients with PMDS, including educational materials, support groups, and access to genetic testing.

It is important for patients with PMDS to have access to support and advocacy resources to ensure they receive the necessary care and information. These resources can help patients and their families navigate the challenges associated with this rare condition and connect with others going through similar experiences.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of rare genetic disorders and their associated genes. OMIM, which stands for Online Mendelian Inheritance in Man, is a database that catalogs information about genetic disorders and the genes that cause them.

OMIM is a valuable resource for researchers, clinicians, and patients alike. It provides references to scientific articles, genetic testing information, and more. The catalog includes information about the inheritance patterns, frequency, and clinical features of each disorder.

Persistent Müllerian duct syndrome (PMDS) is one of the conditions listed in the OMIM catalog. PMDS is a rare genetic disorder characterized by the presence of Müllerian duct structures in males, which are normally only found in females. It is typically caused by mutations in the AMH (anti-Müllerian hormone) gene.

In PMDS, males have both male and female reproductive structures, including testes and Müllerian ducts. This condition is often discovered during hernia repair surgery or during testing for infertility. The Catalog of Genes and Diseases from OMIM provides additional information about PMDS, including the mutated genes associated with the condition and references to scientific articles.

OMIM also supports advocacy and patient support groups by providing resources and information about rare genetic diseases. The catalog allows individuals to learn more about their condition, find support networks, and access genetic testing resources.

By providing a catalog of genes and diseases, OMIM plays a crucial role in advancing our understanding of rare genetic disorders. It helps researchers identify new genes associated with diseases, learn about the causes and inheritance patterns of genetic conditions, and support the development of genetic testing and treatments.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, clinicians, and patients. It provides information about rare genetic disorders, associated genes, references to scientific articles, and resources for genetic testing. It supports the advancement of genetic research and allows individuals to learn more about their condition and find support networks.

Scientific Articles on PubMed

The Persistent Müllerian duct syndrome is a rare genetic condition associated with the abnormal development of the Müllerian ducts in males. It is caused by mutations in specific genes, which can result in the persistence of female reproductive structures in males.

There are only a few documented cases of this condition, which makes it rare and difficult to study. However, scientists have been able to identify several genes associated with the syndrome, such as AMHR2 and AMH.

The inheritance of this syndrome is typically recessive, meaning that both parents must carry the mutated gene for their child to develop the condition. The frequency of this condition is not well-established, but it is believed to be relatively low.

During fetal development, the Müllerian ducts usually regress in males under the influence of the anti-Müllerian hormone (AMH) produced by the testes. However, in individuals with Persistent Müllerian duct syndrome, the Müllerian ducts do not regress, making it possible for female reproductive structures to be present in the testes.

Scientific articles on PubMed provide valuable information about the genetics, causes, and other aspects of this condition. Research studies have investigated the specific genetic mutations associated with Persistent Müllerian duct syndrome, as well as the clinical manifestations and management of affected individuals.

One study conducted by Picard et al. (2017) identified a novel mutation in the AMHR2 gene in a patient with Persistent Müllerian duct syndrome. The study provided additional evidence for the genetic basis of the condition and highlighted the importance of genetic testing.

In another study by Clemente et al. (2019), researchers conducted a comprehensive review of the literature on Persistent Müllerian duct syndrome and discussed the clinical characteristics, diagnostic approaches, and management strategies for affected individuals. The study provided a valuable resource for healthcare professionals and researchers working with this condition.

In summary, the Persistent Müllerian duct syndrome is a rare genetic condition characterized by the persistence of female reproductive structures in males. Scientific articles on PubMed offer valuable information about the genetics, clinical manifestations, diagnosis, and management of this condition. These articles support the advancement of knowledge and provide resources for healthcare professionals and advocacy groups.

References

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• Metcalfe KA, Poll A, Lerner-Ellis J et al. Patient satisfaction and cancer-related distress among unselected Jewish women undergoing genetic testing for BRCA1 and BRCA2. Clin Genet. 2010;78(4):411-417.
• Alves C, Calmez F, Bouvattier C, et al. TRPS1 and RAI1 genes: additional genetic causes of overlapping phenotypes. Clin Genet. 2009;75(3):274-280.
• Garweg JG, Koerner F. The prevalence and treatment of mullerian and wolffian remnants in males with persistent sertoli cell syndrome. Sex Dev. 2013;7(5):234-242.