Persistent Müllerian Duct Syndrome

Fig. 67.1

Intraoperative photograph showing PMDS. Note the uterus, fallopian tubes, and testes

Not uncommonly, it is seen in association with transverse testicular ectopia (TTE) .

PMDS, which is also called hernia uteri inguinal, is a rare congenital abnormality which results from a mutation in the gene encoding anti-müllerian hormone or by a mutation in the anti- müllerian hormone receptors.

Embryology

Embryologically, the fetal testes secret two hormones .
The Leydig cells secretes testosterone which is necessary for the development of the wolfian ducts into the epididymis, vas deferens, and seminal vesicles.
The Sertoli cells on the other hand secrete the müllerian-inhibiting hormone which causes regression of the müllerian ducts that usually develop into the uterus, fallopian tubes, and upper third of the vagina.
PMDS can be caused by deficiency or failure in the production of the müllerian-inhibiting hormone or abnormality in its receptors.
As a result of this, the müllerian ducts fail to regress and develop into a uterus, fallopian tubes, and upper vagina in an otherwise normal male with testicular gonads and 46XY chromosomes.
The presence of consanguinity in some of the reported cases as well as its occurrence in several pairs of brothers supports an autosomal male-restricted mode of inheritance. Others suggested an X-linked mode of inheritance .

Clinical Features

Classically, PMDS is seen in an otherwise normal male with normal external genitalia who presents with unilateral or more commonly bilateral undescended testes and or inguinal hernia .
It is also called hernia uteri inguinal because, at the time of hernia repair, uterus and fallopian tubes may be found in the hernia sac.
There is an association between PMDS and hypospadias.
Most cases of PMDS are diagnosed as a surprise at the time of surgery for an inguinal hernia or undescended testes.
Rarely, the diagnosis is suspected preoperatively during evaluation of undescended testes.
There is however a strong association between PMDS and TTE . PMDS is present in 30–50 % of all cases of TTE and in these cases cross-orchidopexy becomes a necessity .