Persistent Müllerian Duct Syndrome (PMDS): a Rare Anomaly the General Surgeon Must Know About

Agrawal, Aditi; Kataria, Raman

doi:10.1007/s12262-013-1029-7

Cited by 20 publications

(18 citation statements)

References 19 publications

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“…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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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

View full text Add to dashboard Cite

show abstract

“…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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“…Los defectos en el gen FIM conducen a la persistencia de un útero y una trompa de Falopio en los hombres. [10][11][12] Clínicamente, los casos de SPCM se dividen en cuatro categorías (Tabla 1). Nuestro caso estaría en un cuarto grupo de niños con escroto vacío unilateral y testículo normal contralateral, lo cual es lo más infrecuente.…”

Section: Discussionunclassified

Laparoscopía en el diagnóstico de síndrome de persistencia del conducto de Müller en un escolar con escroto vacío

García-Moreno¹,

Baca-Patiño²,

Jiménez-Ferreira³

et al. 2020

Revista Mexicana De Pediatría

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Introduction: Laparoscopy has been widely used to diagnose and treat non-palpable testes. To our knowledge, there are no reports of cases with persistent Müllerian duct syndrome (PMDS) diagnosed by laparoscopy. Clinical case: Six year-old boy with left cryptorchidism and empty scrotal sac; right testicle was in his scrotal sac. By ultrasound, the right testicle was normal, but the left testicle was not detected. At laparoscopy, structures corresponding to the uterus, tube and round ligament were found. Histopathological study reported uterus (myometrium and endometrium), salpinge and remains of adrenal cortex. Conclusions: PMDS should be considered as a cause of empty scrotum in children, and laparoscopy as a good diagnostic and therapeutic alternative.

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Persistent Müllerian Duct Syndrome (PMDS): a Rare Anomaly the General Surgeon Must Know About

Cited by 20 publications

References 19 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

Laparoscopía en el diagnóstico de síndrome de persistencia del conducto de Müller en un escolar con escroto vacío

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