The Chronicle Weird patient is dedicated to the most confusing clinical cases that doctors encounter. Today, a rare case of male pseudo-hermaphroditism in a 67 year old man!
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A 67-year-old man presented himself at the Pristina hospital in Albania to treat his inguinal hernia – in the groin – which had been causing him pain 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 man’s right testicle is “poorly descended.” In other words, it is not in the scrotum, where its physiological place is. Despite everything, the surgery promises to be without any particular difficulty. Inguinal hernias are very common, especially in older men.
Just after incision of the inguinal canal, doctors observe something unusual in the patient’s scrotal sac. A structure in the shape of pearpear several centimeters long which resembles a uterus. It also contains what looks like fallopian tubes ending in a semblance ofovaryovary. A little higher up, in the abdominal wall, doctors also identify a testicletesticle atrophied that 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-hermaphroditismhermaphroditism due to a syndromesyndrome persistent Müllerian ducts. Since the first description of this anomalyanomaly congenital recessive in 1939, only 150 cases were recorded in the scientific literature. The man presents all the phenotypic characteristics and geneticsgenetics – he has a chromosomechromosome X and Y – of a man, but because of a disorder of thehormonehormone anti-Müllerian (AMH), the uterus, fallopian tubes and ovaries persisted and developed jointly with its male genitalia.
Before the fetusfetus human becomes a girl or a boy, he at the same time presents anatomical structures which allow him to become one or the other. They are known as the Müller and Wolff canals. In men, the Müller ducts disappear completely while those of Wolff transform to form the ejaculatory ducts, the epididymis and the seminal vesicles from the 7e development week. In women, it is the Wolffian ducts which disappear while those of Müller form the outline of the fallopian tubes and the rest of the female reproductive system from the 8e development week.
Hormonal dysregulation of genetic origin
These modifications are controlled by anti-Müllerian hormone, coded by a embarrassedembarrassed located on chromosome 19 in males only. To put it simply, AMH is responsible for the disappearance of Müllerian ducts in men. Testosterone induces the transformation of Wolffian ducts. In women, who secrete neither AMH and very little testosteronetestosteroneMüller’s canals persist and those of Wolff degenerate.
In the case of the patient described, who presents with persistent Müllerian duct syndrome type 2 because the uterus, fallopian tubes and ovaries are located in the scrotal sac, two hypotheses are possible: either he presents a production disorder of AMH due to a genetic mutation, i.e. resistanceresistance to the hormone; it is synthesized, but cannot carry out its functions due to a mutation in its receptor. Mutations in the AMH gene represent 50% of cases, AMH resistance 40% and in the remaining 10%, no genetic mutation is detected.
Persistent Müllerian duct syndrome is often associated with infertilityinfertility 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 problem. This is why cases of persistent Müllerian duct syndrome are detected during surgery for a hernia or a poorly descended testicle.
