Persistent Müllerian duct syndrome of mixed anatomical variant (combined male and female type) with mixed germ cell tumor of left intra-abdominal testis

Mohapatra, Manisha; Subramanya, Yerraguntla Sarma

doi:10.4103/0377-4929.182036

Cited by 7 publications

(11 citation statements)

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“…Our own perusal of the literature yields a much higher figure: 33% of PMDS patients 18 years and older experienced some form of unilateral or bilateral malignant testicular degeneration. Seminomas are the most frequent, but choriocarcinomas [Giri et al, 2004;Aboutorabi et al, 2005], mixed germ cell tumors [Eastham et al, 1992;Manassero et al, 2004;Jaka and Shankar, 2007;Mohapatra and Subramanya, 2016], embryonal cell carcinoma [Melman et al, 1981;Carré-Eusèbe et al, 1992;Barad et al, 2016], gonadoblastomas [Morillo-Cucci and German, 1971], or yolk sac tumor [Snow et al, 1985] have also been described. In our own cohort, we encountered 3 testicular tumors (H069 and H050) [Carré-Eusèbe et al, 1992] and H009, all adults with AMH mutations (online suppl.…”

Section: Malignant Degenerationmentioning

confidence: 99%

The Persistent Müllerian Duct Syndrome: An Update Based Upon a Personal Experience of 157 Cases

Picard¹,

Cate

Racine³

et al. 2017

Sex Dev

132

169

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Male sex differentiation is driven by 2 hormones, testosterone and anti-müllerian hormone (AMH), responsible for the regression of müllerian ducts in male fetuses. Mutations inactivating AMH or its receptor AMHRII lead to the persistent müllerian duct syndrome (PMDS) in otherwise normally virilized 46,XY males. Our objective was to review the clinical, anatomical, and molecular features of PMDS based upon a review of the literature and upon 157 personal cases. Three clinical presentations exist: bilateral cryptorchidism, unilateral cryptorchidism with contralateral hernia, and transverse testicular ectopia. Abnormalities of male excretory ducts are frequent. Testicular malignant degeneration occurs in 33% of adults with the disorder, while cancer of müllerian derivatives is less frequent. Fertility is rare but possible if at least one testis is scrotal and its excretory ducts are intact. Eighty families with 64 different mutations of the AMH gene have been identified, mostly in exons 1, 2, and 5. AMHRII gene mutations representing 58 different alleles have been discovered in 75 families. The most common mutation, a 27-bp deletion in the kinase domain, was found in 30 patients of mostly Northern European origin. In 12% of cases, no mutation of AMH or AMHRII has been detected, suggesting a disruption of other pathways involved in müllerian regression.

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Section: Malignant Degenerationmentioning

confidence: 99%

The Persistent Müllerian Duct Syndrome: An Update Based Upon a Personal Experience of 157 Cases

Picard¹,

Cate

Racine³

et al. 2017

Sex Dev

132

169

View full text Add to dashboard Cite

show abstract

“…Our own perusal of the literature yields a much higher figure: 33% of PMDS patients 18 years and older experienced some form of unilateral or bilateral malignant testicular degeneration. Seminomas are the most frequent, but choriocarcinomas [Giri et al, 2004;Aboutorabi et al, 2005], mixed germ cell tumors [Eastham et al, 1992;Manassero et al, 2004;Jaka and Shankar, 2007;Mohapatra and Subramanya, 2016] embryonal cell carcinoma [Melman et al, 1981;Carré-Eusèbe et al, 1992;Barad et al, 2016] gonadoblastomas [Morillo-Cucci and German, 1971] or yolk sac tumor [Snow et al, 1985] have also been described. In our own cohort, we encountered 3 testicular tumors (H069 and H050) [Carré-Eusèbe et al, 1992] and H009, all adults with AMH mutations (see Suppl.…”

Section: Clinical Featuresmentioning

confidence: 99%

Persistent Müllerian duct syndrome: an update

Picard

Josso

2019

Reprod. Fertil. Dev.

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Male sex differentiation is driven by two hormones, testosterone and anti-Müllerian hormone (AMH), responsible for regression of Müllerian ducts in male fetuses. Mutations inactivating AMH or AMH receptor type 2 (AMHR2) are responsible for persistent Müllerian duct syndrome (PMDS) in otherwise normally virilised 46,XY males. This review is based on published cases, including 157 personal ones. PMDS can present in one of three ways: bilateral cryptorchidism, unilateral cryptorchidism with contralateral hernia and transverse testicular ectopia. Abnormalities of male excretory ducts are frequent. Testicular malignant degeneration occurs in 33% of adults with PMDS. Cancer of Müllerian derivatives is less frequent. Fertility is rare but possible if at least one testis is scrotal and its excretory ducts are intact. Up to January 2019, 81 families with 65 different mutations of the AMH gene, mostly in exons 1, 2 and 5, have been identified. AMHR2 gene mutations comprising 64 different alleles have been discovered in 79 families. The most common mutation, a 27-bp deletion in the kinase domain, was found in 30 patients of mostly Northern European origin. In 12% of cases, no mutation of AMH or AMHR2 has been detected, suggesting a disruption of other pathways involved in Müllerian regression.

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“…[6] Seminoma is the most frequently encountered tumor in patients with PMDS; there are also reports of embryonal carcinoma, yolk sac tumor, choriocarcinoma, and mixed germ cell tumor. [7] About 150 cases of PMDS described in the literature. Since patient of PMDS is phenotypically male, diagnosis of PMDS is usually not suspected before surgical exploration.…”

Section: Discussionmentioning

confidence: 99%

Persistent mullerian duct syndrome with testicular seminoma in transverse testicular ectopia

et al. 2018

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Persistent Mullerian Duct Syndrome (PMDS) is a disorder of male pseudohermaphroditism characterized by the persistence of Mullerian duct derivatives (uterus, fallopian tubes, and upper two-third of vagina) in a phenotypically and genotypically male. Transverse testicular ectopia (TTE) is a rare congenital anomaly in which both gonads migrate toward same hemiscrotum. About 150 cases of PMDS and 100 cases of TTE have been reported in previous studies. Testicular tumor in patients with PMDS with TTE is very rare. We report a case of testicular seminoma in a 35-year-old male patient with PMDS and TTE. Preoperative diagnosis was not possible in most of the reported cases.

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Persistent Müllerian duct syndrome of mixed anatomical variant (combined male and female type) with mixed germ cell tumor of left intra-abdominal testis

Cited by 7 publications

References 0 publications

The Persistent Müllerian Duct Syndrome: An Update Based Upon a Personal Experience of 157 Cases

The Persistent Müllerian Duct Syndrome: An Update Based Upon a Personal Experience of 157 Cases

Persistent Müllerian duct syndrome: an update

Persistent mullerian duct syndrome with testicular seminoma in transverse testicular ectopia

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