Manifestaciones urológicas del síndrome de Peutz-Jeghers: presentación de 2 casos y revisión de la literatura

Abstract

Peutz-Jeghers (PJ) syndrome is an autosomal dominant disorder characterised by the presence of multiple hamartomatous polyps, mucocutaneous pigmentation, and an increased susceptibility to develop different tumours. It is associated with the development of testicular Sertoli cell tumours, which are usually bilateral and multifocal and are a highly important element in the evaluation of patients with this disease. Two cases of rare and unusual presentation are presented; one of them without the polyp presentation of the disease and the other one with pituitary disease, along with their management, and a correlation with the information reported in the literature to date.PJ patients have an increased risk of developing tumours in different organs, and although testicles are an uncommon site, its incidence is much higher than that of the general population, therefore monitoring should be performed in this group of patients with self-examination and regular visits, in order to actively look for signs that may indicate development of testicular disease. The most common histological type is the Sertoli cells tumour, which usually has a benign behaviour. So far, there are no histological, biological or imaging markers that predict their behaviour or metastatic potential. Their surgical management has changed according to the most recent literature reviewed, with partial orchiectomy and not radical orchiectomy being proposed as a viable option when the remaining testicular parenchyma is suitable for preservation.