Surgical and genetic aspects of persistent müllerian duct syndrome

Loeff, Deborah S.; Imbeaud, Sandrine; Reyes, Hernán M.; Meller, Janet L.; Rosenthal, Ira M.

doi:10.1016/0022-3468(94)90525-8

Cited by 72 publications

(45 citation statements)

References 25 publications

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“…Mutation in MIS and MISR-II gene has autosomal recessive transmission [3]. The mode of transmission is heterogeneous, and the presence of consanguinity in few cases and the occurrence of PMDS in several pairs of brothers suggest an autosomal recessive male-restricted transmission [4]. It is present since birth, but patient may present to the physician at any stage of life: infant, child or adulthood.…”

Section: Discussionmentioning

confidence: 99%

“…Current surgical recommendation for MDS includes proximal salpingectomies and a hysterectomy, leaving an intact pedicle of myometrium as it facilities preservation of fertility and hormonal functions, especially when the child is young [4]. For TTE, transseptal fixation or modified Ombredanne technique, in which both cords and vessels of two testicles pass through the same inguinal canal, is recommended, but this carries a risk of damage to both vas and vessels of the two testes whenever there is trauma or infection [21].…”

Section: Discussionmentioning

confidence: 99%

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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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Section: Discussionmentioning

confidence: 99%

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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“…7 The mode of transmission is considered genetically heterogenous. 8 MIF levels may be normal in the serum or testes (MIF positive) or nondetectable or low (MIF negative). In the former, receptor defects may occur, and this also explains the reports of typical pedigrees of X-linked inheritance.…”

Section: Discussionmentioning

confidence: 99%

“…9,10 The presence of consanguinity in some cases and the occurrence of PMDS in several pairs of brothers suggest autosomal recessive male-restricted transmission. 8 PMDS is usually discovered incidentally at the time of orchidopexy or inguinal hernia repair in children. The anatomic types are classified as either "male" or "female."…”

Section: Discussionmentioning

confidence: 99%

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Persistent Müllerian Duct Syndrome in a Child: Surgical Management

Crankson

Yahib

2000

Ann Saudi Med

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Persistent müllerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism in which uterus and fallopian tubes are present in a genotypic and phenotypic male. Over 150 cases have been reported in the literature, mostly in adults.1,2 PMDS is likely to be encountered during surgery for undescended testis and inguinal hernia, and surgeons should be aware of this disorder and the options of surgical management. We report a case of PMDS and discuss the etiology, pathogenesis, anatomic types and surgical management. Case ReportA three-month-old Saudi male infant was referred to the Pediatric Surgery clinic for bilateral cryptorchidism. His parents were not related, and there was no family history of undescended testis. On examination, both testes were undescended and impalpable. The penis and scrotum were normal in appearance. A pelvic ultrasound (US) had shown absence of testes and no other abnormality. Human chorionic gonadotrophin stimulation (HCG) test confirmed the presence of testicular tissue.At seven months of age, there was a palpable left testis within an inguinal hernia. A month later at surgery, the uterus, fallopian tubes and both testes were unexpectedly found within the hernia sac (Figure 1). Testicular biopsies were performed and the testes, uterus and fallopian tubes returned into the pelvis, followed by herniorrhaphy. Postoperatively, chromosome analysis confirmed a normal male 46, XY karyotype, and a pelvic US showed a uterus. Histology of the testicular biopsies revealed immature testes consistent with cryptorchid testes.At the age of 15 months, the patient underwent bilateral proximal salpingectomies, leaving the fimbria with each epididymis, corporeal hysterectomy and pedicles of myometrium left with the vasa deferentia. The cervix was split longitudinally in the midline to achieve successful bilateral orchidopexy after mobilizing the internal spermatic vessels. Postoperative follow-up after one year showed both testes in the scrotum to be normal.

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Unusual mixed gonadal dysgenesis associated with Müllerian duct persistence, polygonadia, and a 45,X/46,X,idic(Y)(p) karyotype

Queipo¹,

Nieto²,

Grether³

et al. 2005

Am. J. Med. Genet.

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Mixed gonadal dysgenesis (MGD) is a developmental anomaly in which most of the patients have a dysgenetic testis, a contralateral streak and a 45,X/46,XY karyotype. This entity involves an heterogeneous group of gonadal and phenotypic abnormalities with a wide clinical spectrum. The phenotype depends on the ratio of testicular tissue which induces virilization. Although the karyotype in these patients is 45,X/46,XY, no genotype-phenotype correlation has been found to date. Müllerian ducts persistence (MDP) in MGD is rare; however, four patients with both entities and different karyotypes have been described. Here we present the data on a newborn patient with an atypical MGD associated with MDP, two left testes, a gonadal streak on the right, and absence of Wolffian derivatives. PCR analysis identified all the Y-derived sequence tested in the father, while the patient had them all except the AZF b,c regions which were lost. FISH analysis of the paternal Y chromosome documented Yq paracentric inversion while the patient's karyotype was 45,X/46,X,idic(Yp). No mutations were observed in MIS/MISRII genes.

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Surgical and genetic aspects of persistent müllerian duct syndrome

Cited by 72 publications

References 25 publications

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

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

Persistent Müllerian Duct Syndrome in a Child: Surgical Management

Unusual mixed gonadal dysgenesis associated with Müllerian duct persistence, polygonadia, and a 45,X/46,X,idic(Y)(p) karyotype

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