Bizarre patient: he has a uterus attached to his testicles

A 67-year-old man presented to hospital in Pristina in Albania to have his inguinal hernia repaired – at the level of theelder – which has made him suffer for ten years. Doctors identify a ten by fifteen centimeter swelling to the left of his scrotum – the hernia in question. They also notice that the testicle human right is “badly descended”. In other words, it is not in the scrotum, where its physiological place is. Nevertheless, the surgery appears without any particular difficulty. Inguinal hernias are very common, especially in older men.

Immediately after the inguinal canal incision, the doctors observe anything unusual in the patient’s scrotal sac. A structure in the form of Pear several centimeters long which makes one think of a uterus. It also contains what looks like fallopian tubes ended with a semblance ofovary. A little higher, in the abdominal wall, the doctors also identify a testicle atrophied which is firmly attached to the patient’s uterus and epididymis.

When the uterus persists in a man

This patient is an extremely rare case of pseudo-hermaphroditism due to a syndrome persistent Müller channels. Since the first description of this recessive congenital anomaly in 1939, only 150 cases have been identified in the scientific literature. The man presents all the phenotypic characteristics and genetic – he has a chromosome X and Y – from a man, but because of a disorder of thehormone anti-mullerian (AMH), the uterusfallopian tubes and ovaries survived and developed together with his male genitalia.

Before the human fetus becomes a girl or a boy, it presents at the same time anatomical structures that allow it to become one or the other. They are known as Müller’s and Wolff’s canals. In humans, the ducts of Müller completely disappear while those of Wolff are transformed to form the ejaculatory ducts, the epididymis and the seminal vesicles from the 7^e development week. In women, it is Wolff’s ducts that disappear while Müller’s ducts form the outline of the fallopian tubes and the rest of the female reproductive system from the 8^e development week.

Hormonal dysregulation of genetic origin

These changes are controlled by anti-Müllerian hormone, encoded by a gene located on chromosome 19 of males only. Simply put, AMH is responsible for the disappearance of Müller’s ducts in men. Testosterone, it induces the transformation of the Wolff channels. In women, who secrete neither AMH and very little testosteroneMüller’s canals persist and Wolff’s canals degenerate.

In the case of the patient described, who presents with persistent Müller duct syndrome type 2 because the uterus, the fallopian tubes and the ovaries are located in the scrotal sac, two hypotheses are possible: either he presents with a production disorder of AMH due to a genetic mutation, i.e. a resistance to the hormone; it is synthesized, but cannot perform its functions due to a mutation of its receptor. Mutations in the AMH gene represent 50% of cases, resistance to AMH 40% and in the remaining 10%, no genetic mutation is detected.

Persistent Mullerian duct syndrome is often associated with infertility masculine, which is not the case for this patient who is the father of three children. Apart from this, the persistence of female genital structures in a male body does not pose a major health concern. This is why cases of persistent Müller duct syndrome are detected during surgery for a hernia or a poorly descended testicle.