Background

PMDS stands for Persistent Mullerian Duct Syndrome. This is a rare syndrome and is a form of male pseudohermaphroditism. The Mullerian duct derivatives are present in an otherwise normal male.

OUTLINE

Epidemiology
Disease Associations
Pathogenesis
Laboratory/Radiologic/Other Diagnostic Testing
Gross Appearance and Clinical Variants
Histopathological Features and Variants
Prognosis
Treatment
Commonly Used Terms
Internet Links

 

EPIDEMIOLOGY	CHARACTERIZATION
SYNONYMS	PMDS
INCIDENCE	Rare, less than 200 cases reported

 

DISEASE ASSOCIATIONS	CHARACTERIZATION
PROSTATE CANCER
Persistent mullerian duct syndrome and prostate cancer. Mitre AI, Castilho LN, Avarese de Figueiredo A, Arap S. Division of Urology, Hospital das Clinicas, University of Sao Paulo School of Medicine, Sao Paulo, Brazil.	Urology. 2002 Oct;60(4):698. Abstract quote   A localized Gleason score 6 (3 + 3) prostate cancer was found in a 56-year-old man with bilateral cryptorchidism. Radical laparoscopic prostatectomy was performed. However, at the beginning of the procedure, a uterus, two fallopian tubes, and two intra-abdominal gonads were endoscopically identified. The mullerian rests were excised and the gonads biopsied. The histologic examination showed testicular tissue. The association of prostate cancer and persistent mullerian duct syndrome to our knowledge has not previously been reported. Prostate cancer is an androgen-dependent neoplasm, and patients with male pseudohermaphroditism have poor androgen production that should provide protection against it.
SEMINOMA
Persistent Mullerian Duct Syndrome (PMDS) with testicular seminoma. Ramanujam AS, Chandra A, Raman SG, Sagar TG, Mallikarjuna VS. Department of Division of Medical Oncology, Pathology Cancer Institute (WIA), Chennai	Indian J Pathol Microbiol. 2001 Oct;44(4):441-3 Abstract quote.   Persistent Mullerian Duct Syndrome (PMDS) is characteristically associated with unilateral or bilateral cryptoorchidism. Like other undescended testis, these gonads are at an increased risk of malignant transformation. We report a case of intra abdominal seminoma in cryptorchid testis of a patient with the Persistent Mullerian Duct Syndrome, hitherto uncommonly reported in India.

 

PATHOGENESIS	CHARACTERIZATION
GENETIC MUTATION
A novel mutation in the anti-mullerian hormone gene as cause of persistent mullerian duct syndrome. Lang-Muritano M, Biason-Lauber A, Gitzelmann C, Belville C, Picard Y, Schoenle EJ. Department of Endocrinology and Diabetology, University Children's Hospital, Zurich, Switzerland.	Eur J Pediatr 2001 Nov;160(11):652-4 Abstract quote Persistent mullerian duct syndrome is a relatively rare inherited defect of sexual differentiation characterised by failure of regression of the mullerian ducts in males. In affected individuals, uterus and tubes are present because of defects of synthesis or action of anti-mullerian hormone (AMH), normally produced by the Sertoli cells of the testis. Patients are normally virilised, although mono- or bilateral cryptorchidism may be present. We observed two brothers (chromosomes 46 XY), aged 11 years and 2 months and 8 years and 3 months respectively, with bilateral cryptorchidism. The diagnosis of persistent mullerian duct syndrome was made on the basis of laparoscopic evidence of uterus and tubes, undetectable plasma levels of AMH and a 23 base pair duplicative insertion in exon 5 of the AMH gene, causing the introduction of a premature stop codon, homozygous in the two brothers. The surgical correction of the genital abnormalities was successfully carried out by laparoscopic orchidopexy according to Fowler-Stephens. CONCLUSION: Persistent mullerian duct syndrome should be taken into consideration in all cases of bilateral cryptorchidism. Laparoscopy is the elective procedure for diagnosis of this disease and laparoscopic surgery for orchidopexy of intra-abdominal testes. Mutation analysis of the anti-mullerian hormone gene in these patients helps to understand the structure-function relationship of the anti-mullerian hormone protein, although it is not clear at present whether anti-mullerian hormone is necessary to maintain normal testicular function.

 

LABORATORY/RADIOLOGIC/ OTHER TESTS	CHARACTERIZATION
RADIOLOGIC
US and MRI in a case of persistent Mullerian duct syndrome. Di Cesare E, Di Bartolo De Vincentiis V, Maffey MV, Splendiani A, Masciocchi C. Department of Radiology, University of L'Aquila, Ospedale SM di Collemaggio, I-67 100 L'Aquila, Italy.	Pediatr Radiol. 1998 Nov;28(11):865-7. Abstract quote       We report the US and MR appearances in a case of persistent Mullerian duct syndrome, a rare form of inherited male pseudohermaphroditism characterised by the presence of uterus and fallopian tubes in a normally virilised 46XY male.

GROSS APPEARANCE/ CLINICAL VARIANTS	CHARACTERIZATION
GENERAL
VARIANTS
OBSTRUCTIVE UROPATHY
Persistent Mullerian duct syndrome presenting with bilateral intra-abdominal gonadal tumours and obstructive uropathy. Asthana S, Deo SV, Shukla NK, Raina V, Kumar L. Institute Rotary Cancer Hospital, All India Institute of Medical Sciences, New Delhi.	Clin Oncol (R Coll Radiol) 2001;13(4):304-6 Abstract quote Persistent Mullerian duct syndrome is a rare, autosomal recessive intersex disorder characterized by the presence of completely developed Mullerian duct derivatives in an otherwise normally virilized male with a 46, XY karyotype. We discuss a rare presentation of this disorder, bilateral gonadal tumours with obstructive uropathy, and its management, together with a review of the literature.
TESTICULAR SEMINOMA
Persistent Mullerian Duct Syndrome (PMDS) with testicular seminoma. Ramanujam AS, Chandra A, Raman SG, Sagar TG, Mallikarjuna VS. Department of Division of Medical Oncology, Pathology Cancer Institute (WIA), Chennai.	Indian J Pathol Microbiol 2001 Oct;44(4):441-3 Abstract quote Persistent Mullerian Duct Syndrome (PMDS) is characteristically associated with unilateral or bilateral cryptoorchidism. Like other undescended testis, these gonads are at an increased risk of malignant transformation. We report a case of intra abdominal seminoma in cryptorchid testis of a patient with the Persistent Mullerian Duct Syndrome, hitherto uncommonly reported in India.

 

HISTOLOGICAL TYPES	CHARACTERIZATION
GENERAL
VARIANTS
CLEAR CELL ADENOCARCINOMA
A case of clear cell adenocarcinoma of the mullerian duct in persistent mullerian duct syndrome: the first reported case. Shinmura Y, Yokoi T, Tsutsui Y.	Am J Surg Pathol 2002 Sep;26(9):1231-4 Abstract quote We report a case of a 67-year-old man with clear cell adenocarcinoma of the remnant uterus in persistent Mullerian duct syndrome. He had a normal penis, urethra, and scrotum, and there was also a vagina and uterus. He died in a traffic accident, and clear cell adenocarcinoma was discovered incidentally at autopsy. Clear cell adenocarcinoma of the remnant uterus metastasized to the retroperitoneal lymph nodes and bilateral lungs. Persistent Mullerian duct syndrome is characterized by the persistence of Mullerian derivatives in otherwise normally virilized males. A variety of germ cell tumors of the testis have been reported in association with persistent Mullerian duct syndrome. However, no malignant change of the persistent Mullerian duct structures has been reported. This represents the first reported case of malignant change of the persistent Mullerian duct structures in persistent Mullerian duct syndrome.

 

PROGNOSIS AND TREATMENT	CHARACTERIZATION
PROGNOSTIC FACTORS
GENERAL
Persistent Mullerian duct syndrome. Buchholz NP, Biyabani R, Herzig MJ, Ali A, Nazir Z, Sulaiman MN, Talati J. Section of Urology, Department of Surgery, Aga Khan University, Karachi, Pakistan.	Eur Urol. 1998 Sep;34(3):230-2. Abstract quote   Persistent mullerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism. We present 5 cases with PMDS (2 cases associated with testicular malignancy) and discuss the diagnosis and management. Management strategies of PMDS have changed. Whereas in the past, removal of the mullerian remnants was targeted together with orchidopexy or -ectomy, this is no longer recommended. However, testicles that cannot be descended at an early stage are at a high risk of malignancy and should, therefore, be removed. If this is necessary on both sides, there is the additional problem of lifelong testosterone substitution which requires efficient patient monitoring and good patient compliance. In cases where this cannot be achieved, compromises, such as temporarily delayed orchidectomy, may be considered.
MALIGNANCY
A case of clear cell adenocarcinoma of the mullerian duct in persistent mullerian duct syndrome: the first reported case. Shinmura Y, Yokoi T, Tsutsui Y. Department of Pathology, Kakegawa City General Hospital, Kakegawa, Japan.	Am J Surg Pathol. 2002 Sep;26(9):1231-4. Abstract quote   We report a case of a 67-year-old man with clear cell adenocarcinoma of the remnant uterus in persistent Mullerian duct syndrome. He had a normal penis, urethra, and scrotum, and there was also a vagina and uterus. He died in a traffic accident, and clear cell adenocarcinoma was discovered incidentally at autopsy. Clear cell adenocarcinoma of the remnant uterus metastasized to the retroperitoneal lymph nodes and bilateral lungs. Persistent Mullerian duct syndrome is characterized by the persistence of Mullerian derivatives in otherwise normally virilized males. A variety of germ cell tumors of the testis have been reported in association with persistent Mullerian duct syndrome. However, no malignant change of the persistent Mullerian duct structures has been reported. This represents the first reported case of malignant change of the persistent Mullerian duct structures in persistent Mullerian duct syndrome.
TREATMENT
SURGERY
Laparoscopic management of persistent mullerian duct syndrome. El-Gohary MA. Paediatric Surgery Department, Mafraq Hospital, P.O. Box 2951, Abu Dhabi, United Arab Emirates.	Pediatr Surg Int. 2003 Sep 9 Abstract quote   Between 1993-2002 we used both diagnostic and operative laparoscopy in the management of five cases of persistent mullerian duct syndrome (BMDS). Two siblings from two different families accounted for four of the cases. They presented with cryptorchidism and inguinal hernias. The diagnosis was established during diagnostic laparoscopy. The impalpable testes were on the left in three, on the right in one and bilateral in one. The latter case had been managed previously in another hospital by an open technique, and the diagnosis was missed. Transverse testicular ectopia was present in two unrelated boys. All the cases were managed by splitting the uterus in the midline and then bringing the testis with the vas and attached uterine tissue into the scrotum. Three of the five cases were managed laparoscopically. Follow-up of 6 months to 10 years showed satisfactory results in four of the five cases.
The character of variant persistent mullerian-duct structures. Yu TJ. Division of Pediatric Urology, Department of Urology, Chang Gung Children's Hospital at Kaohsiung, Chang Gung University, Taiwan, ROC.	Pediatr Surg Int. 2002 Sep;18(5-6):455-8. Epub 2002 May 29. Abstract quote   To categorize variant persistent mullerian-duct derivatives (MDD) in males and determine their related clinical presentations for further management, five male patients with retained MDDs from abnormal mullerian remnants were studied. They comprised one patient with persistent mullerian-duct syndrome, one with transverse testicular ectopia, two with mixed gonadal dysgenesis, and one with a mullerian-duct cyst. Removal of persistent mullerian-duct structures and genitoplasty were done in selected patients. Categorization of patients with persistent MDDs permits further understanding of the pathogenesis and facilitates the choice of treatment.

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Last Updated 10/2/2003

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