Persistent mullerian duct syndrome presenting as retractile testis with hypospadias: A rare entity

Abstract

A rare entity of persistent mullerian duct syndrome usually presents with a common symptom of undescended testis (UDT) or hernia. Male pseudo-hermaphroditism with persistent internal mullerian duct structures can present with a 46, XY karyotype with normal external genitalia and. It arises due to deficiency of anti-mullerian substance, resulting from reduced production/responsiveness to mullerian duct, leading to persistence of mullerian duct along with normal development of Wolffian duct structures. Presence of mullerian structure prevents testicular descent increasing the risk of testicular vanishing syndrome. The authors here report a case of 16 years old phenotypical male who came with retractile right sided testis and left side UDT in the urology out-patient department. Explorative laparotomy was performed and an ill-defined mass was excised and sent for histopathological examination. Histopathology revealed presence of mullerian structures. The serum testosterone level was normal, buccal smear cytology and karyotyping revealed a 46, XY genotype of the patient.

Canary in the Coal Mine? Male Infertility as a Marker of Overall Health

“…Persistent Müllerian duct syndrome (PMDS) is a disorder of sexual differentiation characterized by a 46XY karyotype. The persistence of Müllerian duct structures (cervix, uterus, fallopian tubes, and upper two-thirds of the vagina) is secondary to reduced levels of Müllerian inhibiting substance (150). Individuals with PMDS are at increased risk of malignancy, including reports of embryonal tumors, yolk sac tumors, and teratomas (150).…”

Male infertility and genitourinary birth defects: there is more than meets the eye

“…Individuals with persistent m€ ullerian duct syndrome have a 46XY karyotype along with presence of m€ ullerian duct structures, including a cervix, uterus, fallopian tubes, and upper two thirds of the vagina (84). These individuals may exhibit cryptorchidism or testicular ectopia (either unilateral or bilateral) as well as hypospadias (84,85). They are at an increased risk of malignancy, including teratomas, yolk sac, and embryonal tumors and often have hernias (84,86).…”

“…These individuals may exhibit cryptorchidism or testicular ectopia (either unilateral or bilateral) as well as hypospadias (84,85). They are at an increased risk of malignancy, including teratomas, yolk sac, and embryonal tumors and often have hernias (84,86). The majority of these patients are azoospermic and only rare cases of fertility in individuals with testis, vas deferens, and epididymis have been reported (87,88).…”

Persistent Mullerian Duct Syndrome with Polysplenia and Short Pancreas: A Case Report

“…[1][2][3] Despite the normal male genotype (46 XY) and the subsequent normal development of fetal testes, müllerian structures do not regress, either due to the absence of Müllerian Inhibiting Substance (MIS) or lack of response to it. 1,2,4,5 Polysplenia is manifested by multiple small accessory spleens, rather than a single, full sized, normal spleen. Polysplenia, sometimes occurs, alone, but it is often accompanied by other developmental abnormalities.…”

“… 1 – 3 Despite the normal male genotype (46 XY) and the subsequent normal development of fetal testes, müllerian structures do not regress, either due to the absence of Müllerian Inhibiting Substance (MIS) or lack of response to it. 1 , 2 , 4 , 5 …”