Familial Occurrence of Persistent Mullerian Structures in Otherwise Normal Males

“…The condition is associated with a 10-fold risk of testicular malignancy and impaired fertility due to reduced number of spermatogonia and mature spermatocytes and, therefore, reduced sperm concentration and count in the ejaculate (11). A role for AMH during the first stage of testicular descent (abdominal phase) has been proposed (12), suggested by the clinical observation that the testes usually fail to descend in persistent M€ ullerian duct syndrome, in which AMH action is lacking (13,14). On the other hand, the maldescended testes in these patients have been attributed to the retained ductal structures, which limit movement of the testes (15).…”

mentioning

confidence: 98%

Anti-Müllerian hormone in men with normal and reduced sperm concentration and men with maldescended testes

Tüttelmann¹,

Dykstra²,

Themmen

et al. 2009

Fertility and Sterility

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“…1,7,8 One theory for persistent mullerian duct syndrome is that it results from failure of production, release, or lack of response of the target organs to mullerian inhibitory factor. 7 Typically the syndrome is seen in children and presents as an inguinal hernia, with or without a contralateral undescended testis.…”

Section: Discussionmentioning

confidence: 99%

Persistent Mullerian Duct Syndrome in an Adult: A Case Report

et al. 1990

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HM Ali Farsi, HA Mosli, MM Rawas, TN Rehami, SA Hemdi, Persistent Mullerian Duct Syndrome in an Adult: A Case Report. 1990; 10(3): 330-332 Persistent mullerian duct syndrome is a rare form of male pseudohermaphroditism. It is characterized by the presence of well-developed mullerian structures in a male who possesses normally developed external genitalia. 1The classic presentation occurs in children and comprises unilateral cryptorchidism and contralateral inguinal hernia that contains the mullerian structures.2 Recently we encountered the syndrome in a middle-aged man and this influenced the clinical picture as well as management. Case ReportA 40-year-old Saudi man was first seen at our andrology clinic because of primary infertility. He also complained of erectile dysfunction of 10 years' duration. He had been married for 15 years without producing pregnancy. His past medical history included surgical repair of a right inguinal hernia.Examination revealed a healthy man with scanty facial hair. There was no gynecomastia, but his pubic hair was somewhat feminine in distribution. The phallus was normal but the scrotum was empty and underdeveloped. No testicles could be palpated in either inguinal region. There was a right inguinal scar remaining from the hernia repair. Rectal findings were unremarkable.A spermogram on three occasions revealed azoospermia, and the semen was positive for fructose. The serum testosterone level was less than 1 nmol/L (reference interval, 10.4-31); luteinizing hormone, 40 IU/L (reference interval, 3-18); and follicle stimulating hormone, 80 IU/L (reference interval, 3-16). Pelvic ultrasound examination showed a solid mass on the right side. The left testicle was not identifiable. Computed tomogram showed a 6 × 4 × 3 cm soft tissue mass in the right paravesical region that projected posterior to the urinary bladder and could not be differentiated from the right seminal vesicle (Figure 1). The radiological diagnosis was undescended testis, with malignant transformation.On surgical exploration through a lower abdominal incision, the left testis was found to be soft, small, and grossly dysplastic. The epididymis was cystic and separated from the testis. Attached to the epididymis was a mass that extended from the left internal inguinal ring to the right one and descended behind the bladder (Figure 2). The gross appearance was that of the broad ligament and uterus. It was excised and found to consist of a uterus, cervix and vagina, broad ligament, two fallopian tubes, and a dysplastic left testicle (Figure 3). No testicle was found on the right side. Subsequent buccal smear was chromatin-negative. Postoperatively he was started on testosterone replacement therapy.

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Familial Occurrence of Persistent Mullerian Structures in Otherwise Normal Males

Cited by 112 publications

References 10 publications

Looking past the lump: genetic aspects of inguinal hernia in children

Looking past the lump: genetic aspects of inguinal hernia in children

Anti-Müllerian hormone in men with normal and reduced sperm concentration and men with maldescended testes

Persistent Mullerian Duct Syndrome in an Adult: A Case Report

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