title: Testicular parenchymal abnormalities in Klinefelter syndrome: a question of cancer? Examination of 40 consecutive patients.
abstract: Klinefelter syndrome (KS) is a hypergonadotropic hypogonadism characterized by a 47, XXY karyotype. The risk of testicular cancer in KS is of interest in relation to theories about testicular cancer etiology generally; nevertheless it seems to be low. We evaluated the need for imaging and serum tumor markers for testicular cancer screening in KS. Participants were 40 consecutive KS patients, enrolled from December 2009 to January 2013. Lactate dehydrogenase (LDH), alpha-fetoprotein (AFP), and beta-human chorionic gonadotrophin subunit (β-HCG) serum levels assays and testicular ultrasound (US) with color Doppler, were carried out at study entry, after 6 months and every year for 3 years. Abdominal magnetic resonance (MR) was performed in KS when testicular US showed micro-calcifications, testicular nodules and cysts. Nearly 62% of the KS had regular testicular echotexture, 37.5% showed an irregular echotexture and 17.5% had micro-calcifications and cysts. Eighty seven percent of KS had a regular vascular pattern, 12.5% varicocele, 12.5% nodules <1 cm, but none had nodules >1 cm. MR ruled out the diagnosis of cancer in all KS with testicular micro calcifications, nodules and cysts. No significant variations in LDH, AFP, and β-HCG levels and in US pattern have been detected during follow-up. We compared serum tumor markers and US pattern between KS with and without cryptorchidism and no statistical differences were found. We did not find testicular cancer in KS, and testicular US, tumor markers and MR were, in selected cases, useful tools for correctly discriminating benign from malignant lesions.
authors.forename: Giacomo
authors.initials: G
authors.lastname: Accardo
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Vallone
authors.forename: Daniela
authors.initials: D
authors.lastname: Esposito
authors.forename: Filomena
authors.initials: F
authors.lastname: Barbato
authors.forename: Andrea
authors.initials: A
authors.lastname: Renzullo
authors.forename: Giovanni
authors.initials: G
authors.lastname: Conzo
authors.forename: Giovanni
authors.initials: G
authors.lastname: Docimo
authors.forename: Katherine
authors.initials: K
authors.lastname: Esposito
authors.affiliation: Department of Cardiothoracic and Respiratory Sciences, Endocrine Unit, Second University of Naples, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Pasquali
mesh_terms: D000328:Adult; D014408:Biomarkers, Tumor / Q000097:blood; D018997:Chorionic Gonadotropin, beta Subunit, Human / Q000097:blood; D015331:Cohort Studies; D055088:Early Detection of Cancer / Q000379:methods*; D005500:Follow-Up Studies; D006801:Humans; D015994:Incidence; D007713:Klinefelter Syndrome / Q000097:blood / Q000150:complications*; D007770:L-Lactate Dehydrogenase / Q000097:blood; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging; D008297:Male; D011446:Prospective Studies; D012189:Retrospective Studies; D012307:Risk Factors; D013736:Testicular Neoplasms / Q000175:diagnosis* / Q000453:epidemiology*; D013737:Testis / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D014463:Ultrasonography; D000509:alpha-Fetoproteins / Q000378:metabolism
chemical_list: D014408:Biomarkers, Tumor; D018997:Chorionic Gonadotropin, beta Subunit, Human; D000509:alpha-Fetoproteins; D007770:L-Lactate Dehydrogenase