Persistent Müllerian duct syndrome: Difference between revisions
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[[File:autorecessive.svg| | {{SI}} | ||
{{Infobox medical condition | |||
| name = Persistent Müllerian duct syndrome | |||
| image = [[File:autorecessive.svg|200px]] | |||
| caption = Persistent Müllerian duct syndrome is inherited in an [[autosomal recessive]] manner. | |||
| synonyms = PMDS | |||
| field = [[Endocrinology]], [[Genetics]] | |||
| symptoms = Presence of [[Müllerian duct]] structures in a genetically male individual | |||
| complications = [[Infertility]], [[cryptorchidism]], [[inguinal hernia]] | |||
| onset = Congenital | |||
| duration = Lifelong | |||
| causes = Mutations in the [[AMH]] or [[AMHR2]] genes | |||
| risks = Family history of the condition | |||
| diagnosis = [[Genetic testing]], [[imaging studies]] | |||
| differential = [[Androgen insensitivity syndrome]], [[5-alpha-reductase deficiency]] | |||
| treatment = Surgical removal of Müllerian structures, management of cryptorchidism | |||
| prognosis = Generally good with treatment | |||
| frequency = Rare | |||
}} | |||
'''Persistent Müllerian duct syndrome''' (PMDS) is a rare form of [[intersex]] condition in which individuals with a typically male [[karyotype]] (46,XY) and normal male external genitalia also have internal female reproductive structures, such as a [[uterus]] and [[fallopian tubes]]. This condition is caused by a failure in the regression of the [[Müllerian ducts]] during fetal development. | |||
== Pathophysiology == | == Pathophysiology == | ||
In typical male fetal development, the [[Müllerian ducts]] regress due to the secretion of [[Anti-Müllerian hormone]] (AMH) by the [[Sertoli cells]] of the testes. In PMDS, this process is disrupted, leading to the persistence of these ducts. The disruption can be due to mutations in the AMH gene or the AMH receptor gene, resulting in either a lack of AMH production or a failure of the body to respond to AMH. | In typical male fetal development, the [[Müllerian ducts]] regress due to the secretion of [[Anti-Müllerian hormone]] (AMH) by the [[Sertoli cells]] of the testes. In PMDS, this process is disrupted, leading to the persistence of these ducts. The disruption can be due to mutations in the AMH gene or the AMH receptor gene, resulting in either a lack of AMH production or a failure of the body to respond to AMH. | ||
== Clinical Presentation == | == Clinical Presentation == | ||
Individuals with PMDS usually present with normal male external genitalia and undescended testes ([[cryptorchidism]]). The presence of a uterus and fallopian tubes is often discovered incidentally during surgery for cryptorchidism or inguinal hernia repair. In some cases, the condition may be associated with infertility. | Individuals with PMDS usually present with normal male external genitalia and undescended testes ([[cryptorchidism]]). The presence of a uterus and fallopian tubes is often discovered incidentally during surgery for cryptorchidism or inguinal hernia repair. In some cases, the condition may be associated with infertility. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of PMDS is typically made through a combination of clinical examination, imaging studies such as [[ultrasound]] or [[MRI]], and genetic testing to identify mutations in the AMH or AMH receptor genes. Hormonal assays may also be conducted to assess levels of AMH and other relevant hormones. | Diagnosis of PMDS is typically made through a combination of clinical examination, imaging studies such as [[ultrasound]] or [[MRI]], and genetic testing to identify mutations in the AMH or AMH receptor genes. Hormonal assays may also be conducted to assess levels of AMH and other relevant hormones. | ||
== Treatment == | == Treatment == | ||
The primary treatment for PMDS involves surgical management of cryptorchidism to reduce the risk of [[testicular cancer]] and to potentially improve fertility. The removal of the persistent Müllerian structures is generally not necessary unless they cause symptoms or complications. | The primary treatment for PMDS involves surgical management of cryptorchidism to reduce the risk of [[testicular cancer]] and to potentially improve fertility. The removal of the persistent Müllerian structures is generally not necessary unless they cause symptoms or complications. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with PMDS is generally good, especially if cryptorchidism is managed appropriately. However, there may be an increased risk of infertility and testicular cancer, necessitating regular follow-up and monitoring. | The prognosis for individuals with PMDS is generally good, especially if cryptorchidism is managed appropriately. However, there may be an increased risk of infertility and testicular cancer, necessitating regular follow-up and monitoring. | ||
== See also == | |||
== | |||
* [[Intersex]] | * [[Intersex]] | ||
* [[Cryptorchidism]] | * [[Cryptorchidism]] | ||
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* [[Testicular cancer]] | * [[Testicular cancer]] | ||
* [[Karyotype]] | * [[Karyotype]] | ||
== See Also == | == See Also == | ||
* [[Disorders of sex development]] | * [[Disorders of sex development]] | ||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
== References == | == References == | ||
{{Reflist}} | {{Reflist}} | ||
{{Medicine-stub}} | {{Medicine-stub}} | ||
[[Category:Intersex variations]] | [[Category:Intersex variations]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Endocrine diseases]] | [[Category:Endocrine diseases]] | ||
Latest revision as of 05:58, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Persistent Müllerian duct syndrome | |
|---|---|
| |
| Synonyms | PMDS |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Presence of Müllerian duct structures in a genetically male individual |
| Complications | Infertility, cryptorchidism, inguinal hernia |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the AMH or AMHR2 genes |
| Risks | Family history of the condition |
| Diagnosis | Genetic testing, imaging studies |
| Differential diagnosis | Androgen insensitivity syndrome, 5-alpha-reductase deficiency |
| Prevention | N/A |
| Treatment | Surgical removal of Müllerian structures, management of cryptorchidism |
| Medication | N/A |
| Prognosis | Generally good with treatment |
| Frequency | Rare |
| Deaths | N/A |
Persistent Müllerian duct syndrome (PMDS) is a rare form of intersex condition in which individuals with a typically male karyotype (46,XY) and normal male external genitalia also have internal female reproductive structures, such as a uterus and fallopian tubes. This condition is caused by a failure in the regression of the Müllerian ducts during fetal development.
Pathophysiology[edit]
In typical male fetal development, the Müllerian ducts regress due to the secretion of Anti-Müllerian hormone (AMH) by the Sertoli cells of the testes. In PMDS, this process is disrupted, leading to the persistence of these ducts. The disruption can be due to mutations in the AMH gene or the AMH receptor gene, resulting in either a lack of AMH production or a failure of the body to respond to AMH.
Clinical Presentation[edit]
Individuals with PMDS usually present with normal male external genitalia and undescended testes (cryptorchidism). The presence of a uterus and fallopian tubes is often discovered incidentally during surgery for cryptorchidism or inguinal hernia repair. In some cases, the condition may be associated with infertility.
Diagnosis[edit]
Diagnosis of PMDS is typically made through a combination of clinical examination, imaging studies such as ultrasound or MRI, and genetic testing to identify mutations in the AMH or AMH receptor genes. Hormonal assays may also be conducted to assess levels of AMH and other relevant hormones.
Treatment[edit]
The primary treatment for PMDS involves surgical management of cryptorchidism to reduce the risk of testicular cancer and to potentially improve fertility. The removal of the persistent Müllerian structures is generally not necessary unless they cause symptoms or complications.
Prognosis[edit]
The prognosis for individuals with PMDS is generally good, especially if cryptorchidism is managed appropriately. However, there may be an increased risk of infertility and testicular cancer, necessitating regular follow-up and monitoring.
See also[edit]
See Also[edit]
References[edit]
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