Persistent Mullerian duct syndrome with testicular seminoma: A report of two cases

Inuganti, Renuka Venkata; Bala, Gezim; Kumar, Y Kiran; Bharathi, Y Krishna

doi:10.4103/0970-1591.85451

Cited by 8 publications

(4 citation statements)

References 4 publications

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“…In the literature, sterility is indeed the rule but normal spermatogenesis has been reported. A thorough literature search found that 19% of reported adult patients fathered one or more children [Karimi-Nejad et al 1988;Farag, 1993;Berkmen, 1997;Aboutorabi et al, 2005;Liang et al, 2006;Jaka and Shankar, 2007;Prakash et al, 2009;Sichani et al, 2009;Inuganti et al, 2011;Kaore and Kaore, 2012;Kumar and Mohan, 2012;Kovachev et al, 2014;Sherwani et al, 2014;Agrawal and Kataria, 2015;Modi et al, 2015]. Farag et al [1993] reported an 11% proportion of fertile patients in Kuwait and neighboring populations.…”

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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Section: Clinical Featuresmentioning

confidence: 99%

Persistent Müllerian duct syndrome: an update

Picard

Josso

2019

Reprod. Fertil. Dev.

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show abstract

“…In the literature, sterility is indeed the rule, but normal spermatogenesis has also been reported. A thorough literature search found that 19% of reported adult patients fathered 1 or more children [Karimi-Nejad et al, 1988;Farag, 1993;Berkmen, 1997;Aboutorabi et al, 2005;Liang et al, 2006;Jaka and Shankar, 2007;Prakash et al, 2009;Sichani et al, 2009;Inuganti et al, 2011;Kaore and Kaore, 2012;Kumar and Mohan, 2012;Kovachev et al, 2014;Sherwani et al, 2014;Agrawal and Kataria, 2015;Modi et al, 2015]. Farag [1993] reported a proportion of 11% of fertile patients in Kuwait and neighboring populations.…”

Section: Infertilitymentioning

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

133

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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“…Abdominopelvik BT'de paraaortik, aortokaval alanı dolduran en büyüğü 27x35 mm boyutlarında, konglomerasyon gösteren lenfadenopatiler tespit edildi. Kemoterapiden 1 ay sonra çekilen flor-18 floradeoksiglukoz PET'de böbrek hilusu düzeyinden başlayarak paraaortik alanda iliak bifurkasyona kadar uzanan, aksiyel kesitlerde çapı 2,6 cm olarak ölçülen yumuşak doku dansitesinde minimal metabolik aktivite (SUVmax:3.04) tespit edildi (Resim 4). PET ile elde edilen bulgular kemoterapi sonrası inflamatuar süreç ile uyumlu olduğundan hastaya ek tedavi verilmeden izlemi uygun görüldü.…”

Section: Olgu Sunumuunclassified

“…Sıklıkla otozomal resesif geçmekle birlikte, X'e bağlı resesif kalıtımı da rapor edilmiştir. Erkek psö-dohermafroditizminin nadir bir formu olan bu sendroma transvers testiküler ektopi, herni uteri inguinalis ve çok nadir olarak testis veya Müller kanalı kalıntılarının tümörleri de eşlik edebilir 2 . Bu olgu sunumunda testis tümörlü PMKS'li bir hasta tartışıldı.…”

Section: Introductionunclassified

The Persistent Mullerian Duct Syndrome with Testicular tumor: A case report

Demirel¹,

Gökkaya²,

Bulut³

et al. 2013

Sakarya Med J

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Persistan Müllerian kanal sendromu (PMKS), uterus, fallop tüpleri ve vajenin üst 2/3' ü gibi yapıların normal fenotipli bir erkekte bulunması ile karakterize nadir bir sendromdur. Sendrom sıklıkla tek taraflı inmemiş testis, karşı tarafta herni uteri inguinalisin olduğu erkek formu ya da daha nadir ovaryan pozisyonda yer alan bilateral inmemiş testis ve Müllerian yapıların olduğu dişi formu şeklinde ortaya çıkar. Bu yazıda testis tümörlü PMKS'li bir hasta sunulmaktadır.

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Persistent Mullerian duct syndrome with testicular seminoma: A report of two cases

Cited by 8 publications

References 4 publications

Persistent Müllerian duct syndrome: an update

Persistent Müllerian duct syndrome: an update

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

The Persistent Mullerian Duct Syndrome with Testicular tumor: A case report

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