Hypofertility in a persistence of mullerian duct syndrome: Case report

Persistent Mullerian duct syndrome is a rare form of pseudohermaphroditism, possibly resulting from the absence of Mullerian duct inhibiting factor.

We report the case of a 36 year-old patient with a syndrome of persistent Müllerian ducts (PMDS) of the female type. The Clinical examination revealed avacant scrotum, a normal penis. The spermogram analysis found azoospermia. Imaging using ultrasound and tomotensidometry found the presence of amass in the back of bladder. A Laparoscopic exploration revealed two slightly enlarged testicles, in a pelvic situation intimately confined to a rudimentary uterus with two tubes. The histological examination was in favor of a uterine endometrium and two fallopian tubes. The karyotype requested later was male 46 XY.

Since the first case, between 200 and 262 cases have been reported in literature around the world, this might reveal that the incidence and prevalence of this type of diseases are not well-estimated. The diagnosis is often a fortuitous discovery during a cryptorchidism surgery or inguinal hernia, more rarely during the management of a state of infertility or the degenerescence of the testis or Mullerian derivative. It is caused by either the anti-Mullerian hormone deficiency (AMH) or a dysfunction of its receptor.

A multidisciplinary approach is necessary for surgical management. long-term prognosis is favorable, though fertility seem to be decreased and also it might lead to a riskiness of malignancy owing to cryptorchidism and preserved Mullerian remants.