Fact-sheet: Persistent Müllerian duct syndrome


Updated on 10/03/2018 at 2:54 PM

Note : 0/10
Share

View all RADEOS cases associated with this fact-sheet

Definition

Rare form of internal male pseudohermaphroditism.

Presence in an individual of a uterus, fallopian tubes, and upper vagina, along with otherwise male-type external genitalia; the karyotype is usually 46 XY.

Normally, from the eighth week of gestation onward, AMH secreted by the Sertoli cells of the male fetus induces regression of the Müllerian structures. Only the appendix testis (hydatid of Morgagni), the prostatic utricle—the rudimentary equivalent of the vagina and uterine cervix—and the seminal colliculus, representing the hymen, persist. It results from an AMH deficiency or from peripheral tissue resistance to its action due to a receptor abnormality.

Clinical features

Diagnosis is often incidental, discovered during surgery for a malpositioned testis or hernia repair.

Discovery in the setting of a testicular tumor is exceptional.

Laboratory findings

Karyotype: confirms male sex, 46 XY,

Plasma AMH and estradiol levels with LH-RH stimulation test.

CT

Presence of a uterus, fallopian tubes, and upper vagina, along with otherwise male-type external genitalia.

MRI

Same as CT.

Management

Surgical treatment is difficult. At least a unilateral scrotal orchidopexy should be achieved; for the other testis, two options are possible: extraperitoneal placement in a prepubic or high inguinal position;
  • scrotal orchidopexy at the cost of a necessary vasectomy.
The uterus should be preserved at least partially. As a result, only proximal salpingectomy and fundal hysterectomy are permitted.

Classification

Three groups:

  • Group A: both testes are intra-abdominal (female type);
  • Group B: one testis is in an inguinal or scrotal position, the other being intra-abdominal (male type);
  • Group C: both testes and the fallopian tubes are located within the same hemiscrotum (transverse testicular ectopia).