Testicular degeneration in three patients with the persistent müllerian duct syndrome

Imbeaud, Sandrine; Rey, Rodolfo; Berta, Philippe; Chaussain, Jean‐Louis; Wit, Jan-Maarten; Lustig, Robert H.; Jy, Picard; Josso, Nathalie

doi:10.1007/bf01954268

Cited by 31 publications

(31 citation statements)

References 28 publications

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“…In the 3 cases described by Imbeaud et al [1995], testicular regression was present already at an early age (birth, 3 and 6 years, respectively). In our 3 patients of family 1, both testes failed to descend, suggesting a severe developmental defect.…”

Section: Discussionmentioning

confidence: 99%

<i>AMH</i> Gene Mutations in Two Egyptian Families with Persistent Müllerian Duct Syndrome

Mazen¹,

Hamid²,

Gammal³

et al. 2011

Sex Dev

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The anti-müllerian hormone (AMH) is responsible for regression of müllerian ducts during male sexual differentiation. Mutations in the AMH gene or its type II receptor gene AMHR2 lead to persistence of the uterus and fallopian tubes in male children, i.e. persistent müllerian duct syndrome (PMDS). Both conditions are transmitted according to an autosomal recessive pattern and are symptomatic only in males. We report on 2 unrelated Egyptian consanguineous families with PMDS. The first family comprised 3 affected prepubertal sibs complaining of undescended testes. Pelvic exploration and laparotomy revealed müllerian duct derivatives. The other family was presenting with an adolescent male with impalpable left testis, and pelvic exploration showed remnants of fallopian tubes and rudimentary uterus. AMH levels were very low and almost undetectable in all affected patients in both families. Direct sequencing of the coding region of the AMH gene identified 2 homozygous mutations in exon 1, R95X in the first family and V12G in the second family. These data confirmed the autosomal recessive type of PMDS. Molecular investigation of this rare disorder in a larger number of cases with undescended testes in Egypt is warranted for proper diagnosis and genetic counseling.

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Section: Discussionmentioning

confidence: 99%

<i>AMH</i> Gene Mutations in Two Egyptian Families with Persistent Müllerian Duct Syndrome

Mazen¹,

Hamid²,

Gammal³

et al. 2011

Sex Dev

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“…In 2 of our cases, transverse testicular ectopia was the only sign of an AMH mutation, as müllerian derivatives had regressed normally. Rarely, one or both testes are missing in patients fulfilling the criteria for PMDS [Imbeaud et al, 1995a;Souto et al, 1995;El-Gohary, 2003]. Testicular torsion, facilitated by the abnormal mobility of the testes, has been incriminated [Chaabane et al, 2010].…”

Section: Position Of the Testesmentioning

confidence: 99%

“…Endocrine investigations in PMDS usually show that Leydig cell function is normal, except in patients with testicular degeneration [Imbeaud et al, 1995a]. The AMH concentration in serum depends upon the molecular origin of the disorder.…”

Section: Endocrine Investigationsmentioning

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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“…Fertility is rare in patients with PMDS. Imbeaud et al reported three cases of PMDS with testicular degeneration and opined that anatomical abnormality may favour testicular torsion and early loss of testis [11].…”

Section: Discussionmentioning

confidence: 99%

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

Agrawal¹,

Kataria²

2014

Indian J Surg

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Persistent Müllerian duct syndrome is a rare condition occasionally encountered in men with normal phenotype but with presence of Müllerian duct structures. In India, owing to neglect and lack of facilities, we encounter this condition in adult males. We encountered on the same day in the operation theatre two phenotypic males aged 40 years and 10 months who had inguinal hernia on one side along with contralateral undescended testis. Both patients intraoperatively had uterus with fallopian tubes and underwent subtotal hysterectomy with preservation of vas. Repair of inguinal hernia with fixation of the testis in the scrotum was done. Though rare, every surgeon operating upon inguinal hernia or undescended testes or cryptorchidism needs to know about the presence of the uterus in a phenotypic male patient at any age. High degree of suspicion and awareness is needed to diagnose this condition. Early treatment is needed to maintain fertility and to prevent the occurrence of malignancy in remnant müllerian structures.

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Testicular degeneration in three patients with the persistent müllerian duct syndrome

Abstract: The high incidence of degeneration of testicular tissue in the persistent müllerian duct syndrome could be indirectly linked to anatomical abnormalities which could favour testicular torsion, known to induce testicular regression.

Cited by 31 publications

References 28 publications

<i>AMH</i> Gene Mutations in Two Egyptian Families with Persistent Müllerian Duct Syndrome

<i>AMH</i> Gene Mutations in Two Egyptian Families with Persistent Müllerian Duct Syndrome

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

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

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