persistent Mullerian duct syndrome

Persistent Mullerian Duct Syndrome (PMDS) Description

Persistent Mullerian duct syndrome, also known as PMDS, is a rare genetic disorder characterized by the presence of Müllerian duct derivatives in individuals who are biologically male. This condition occurs when there is a failure of the Müllerian ducts to regress during fetal development.

Key Features:

• Presence of Müllerian duct structures, such as fallopian tubes, uterus, and/or upper part of the vagina, in individuals with normal male phenotype [10][11]
• Rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives [14]
• Genetic disorder characterized by the persistence of Mullerian structures [15]

Symptoms:

• The presence of female reproductive organs in a biological male
• May be asymptomatic or may present with symptoms such as menstrual bleeding, pelvic pain, or infertility

Causes and Risk Factors:

• Genetic mutations that affect the development of Müllerian ducts
• Family history of PMDS
• Presence of other genetic disorders or conditions that affect sex development

Diagnosis and Treatment:

• Diagnosis is typically made through imaging studies such as ultrasound or MRI, which reveal the presence of Müllerian duct structures
• Treatment options may include surgical removal of the affected organs, hormone therapy to induce male secondary sexual characteristics, or other interventions to address symptoms and improve quality of life.

References: [10] by D Renu · 2010 · Cited by 59 [11] Apr 1, 2024 [14] by AS Agrawal · 2015 · Cited by 23 [15] Persistent Mullerian duct syndrome (PMDS) is a genetic disorder characterized by the persistence of Mullerian structures of fallopian tubes, uterus, and upper ...

Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development characterized by the presence of Müllerian duct derivatives in males. The typical clinical features of PMDS include:

• Cryptorchidism: Undescended testes, which can be associated with inguinal hernia [3][8]
• Testicular ectopia: Testicles that are not in their normal position, often accompanied by an inguinal hernia [5]
• Hernia uteri inguinalis: A rare condition where the uterus is present in the inguinal canal [5]
• Abnormal growth patterns in internal male genitalia: The presence of Müllerian duct derivatives can lead to abnormal development of the internal male genitalia [2][4]

In some cases, males with PMDS may also experience:

• Soft out-pouchings in the lower abdomen (inguinal hernias): This can be a sign of testicular ectopia or cryptorchidism [8]
• Abnormal external genitalia: Although rare, some individuals with PMDS may have abnormal external genitalia, which can resemble female external genitalia [2]

It's essential to note that the signs and symptoms of PMDS can vary widely among affected individuals. A diagnosis is typically made through a combination of clinical evaluation, imaging studies (such as ultrasound or MRI), and histological examination of tissue samples.

References:

[1] Mar 1, 2011 — The first noted signs and symptoms in males with persistent Müllerian duct syndrome are usually undescended testes (cryptorchidism) or soft out-pouchings in the lower abdomen (inguinal hernias).

[2] Apr 1, 2024 — What Are the Signs and Symptoms of PMDS? · Abnormal growth patterns in internal male genitalia · The signs or appearance of external female ...

[3] by D Renu · 2010 · Cited by 59 — Persistent Mullerian duct syndrome (PMDS) is a rare form of internal male pseudohermaphroditism in which Mullerian duct derivatives are seen in a male patient.

[4] Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives.

[5] The typical clinical features of PMDS include cryptorchidism, testicular ectopia associated with inguinal hernia, and hernia uteri inguinalis. Testicular ...

[6] Persistent Müllerian duct syndrome (PMDS) is the presence of Müllerian duct derivatives (fallopian tubes, uterus, and/or the upper part of the vagina)

[7] by AS Agrawal · 2015 · Cited by 23 — Persistent Müllerian duct syndrome is a rare condition occasionally encountered in men with normal phenotype but with presence of Müllerian duct structures.

[8] by N Fatima · 2021 — The first noted signs and symptoms in males with PMDS are usually undescended testes (cryptorchidism) or soft out-pouchings in the lower abdomen (inguinal ...

Diagnostic Tests for Persistent Müllerian Duct Syndrome (PMDS)

Persistent Müllerian Duct Syndrome (PMDS) is a rare reproductive disorder that affects males, where the uterus and other female reproductive structures develop in males. Diagnosing PMDS can be challenging, but various tests can help confirm the condition.

• Imaging Studies: Imaging studies such as ultrasound (US), Magnetic Resonance Imaging (MRI), and multi-detector Computed Tomography (CT) scans can detect unusual internal structures or growth patterns that may indicate PMDS [4].
• Blood Tests: Blood tests can check for abnormal hormone levels, which can be indicative of PMDS. However, these tests are not definitive on their own and should be used in conjunction with other diagnostic methods.
• Genetic Testing: Genetic testing can confirm the presence of mutations associated with PMDS. This test is particularly useful when a family history of the condition exists [5].
• hCG Stimulation Test: The hCG stimulation test can help diagnose PMDS by measuring the response to human chorionic gonadotropin (hCG) in males. A normal rise in testosterone levels after hCG administration is consistent with PMDS, while an absent response may indicate another condition [6].
• Clinical Examination and Symptoms: Diagnosing PMDS also involves a thorough clinical examination and taking into account the patient's symptoms, such as undescended testes (cryptorchidism) or soft outgrowths in the groin area [2].

References

[1] Tian

There is no drug treatment for Persistent Müllerian Duct Syndrome (PMDS).

According to search results, the treatment for PMDS consists of surgical procedures such as replacement of the gonads within the scrotum [4], laparoscopic resection of Müllerian remnants with orchiopexy or orchidectomy [3], and meticulous proximal salpingectomy and hysterectomy is indicated only in some cases [2].

The goal of surgery is to remove the Müllerian duct structures, which are typically found in the abdominal cavity, and relocate the testes to their normal position within the scrotum. This can help prevent potential complications such as malignancy risk in cryptorchidism [8].

It's worth noting that PMDS does not cause any physical complications and does not pose any danger to a newborn child [7]. However, early surgical intervention is recommended to reduce the risk of future problems.

References: [2] Optimal surgical management is orchiopexy leaving the uterus and fallopian tubes in situ. Meticulous proximal salpingectomy and hysterectomy is indicated only ... [3] The authors recommend laparoscopic resection of Mullerian remnants with orchiopexy or orchidectomy as a treatment for this disease. [4] Treatment is surgical and consists of replacement of the gonads within the scrotum, requiring careful dissection of the Müllerian derivatives. [7] Treatment. Persistent Müllerian

Persistent Mullerian Duct Syndrome (PMDS): A Rare Genetic Disorder

Persistent Mullerian duct syndrome (PMDS) is a rare genetic disorder characterized by the persistence of Mullerian structures, such as fallopian tubes, uterus, and upper two-thirds of the vagina, in a normal XY male individual [1]. This condition is also known as internal male pseudohermaphroditism.

Causes and Symptoms

The syndrome is caused by an insufficient amount of antimüllerian hormone or by insensitivity of the target organ to this factor [8]. Patients with PMDS may present with cryptorchidism, inguinal hernia, infertility due to aplasia of the vas deferens or epididymis, or hematospermia [3][9].

Differential Diagnosis

PMDS should be carefully differentiated from other forms of intersex disorders, which usually show some degree of ambiguity of the genitalia. The initial differential diagnosis may also include enlarged lymph nodes from prostate cancer or colon cancer, and lymphoma [5][6].

Diagnosis

The diagnosis of PMDS is based on a combination of anatomic and clinical findings, and ideally karyotyping is complementary [4]. A thorough examination and imaging studies are necessary to confirm the presence of Mullerian duct-derived structures.

References

[1] Context 1: Persistent Mullerian duct syndrome (PMDS) is a rare form of internal male pseudohermaphroditism in which Mullerian duct derivatives are seen in a male patient.

[2] Context 8: The syndrome is caused by an insufficient amount of antimüllerian hormone or by insensitivity of the target organ to this factor.

[3] Context 3: Patients may present with cryptorchidism, inguinal hernia, infertility (due to aplasia of the ductus deferentes or epididymes), or hematospermia.

[4] Context 4: Diagnosis of persistent Müllerian duct syndrome is based on a combination of anatomic and clinical findings and ideally the karyotyping is complementary.

[5] Context 5: Persistent müllerian duct syndrome should be carefully differentiated from other forms of intersex disorders, which usually show some degree of ambiguity of the genitalia.

[6] Context 6: Initial differential from oncology included enlarged lymph node from prostate cancer or colon cancer, and lymphoma.

[7] Context 7: Persistent Mullerian duct syndrome is a rare genetic disorder characterized by the persistence of Mullerian structures in a normal XY male individual.

[8] Context 8: The syndrome is caused by an insufficient amount of antimüllerian hormone or by insensitivity of the target organ to this factor.

[9] Context 3: Patients may present with cryptorchidism, inguinal hernia, infertility (due to aplasia of the ductus deferentes or epididymes), or hematospermia.