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Testicular involvement is a hallmark of Apo A-I Leu75Pro mutation amyloidosis.

  • Delbarba, Andrea1
  • Facondo, Paolo2
  • Fisogni, Simona3
  • Izzi, Claudia4, 5
  • Maffezzoni, Filippo1
  • Pezzaioli, Letizia Chiara2
  • Di Lodovico, Elena2
  • Facchetti, Fabio3
  • Cappelli, Carlo2
  • Scolari, Francesco5
  • Ferlin, Alberto2
  • 1 Unit of Endocrinology and Metabolism, ASST Spedali Civili Brescia, Brescia, Italy. , (Italy)
  • 2 Department of Clinical and Experimental Sciences, Unit of Endocrinology and Metabolism, University of Brescia and ASST Spedali Civili Brescia, Brescia, Italy. , (Italy)
  • 3 Department of Molecular and Translational Medicine, Pathology Unit, University of Brescia and ASST Spedali Civili Brescia, Brescia, Italy. , (Italy)
  • 4 Prenatal Diagnosis Unit, Department of Obstetrics and Gynecology, ASST Spedali Civili, Brescia, Italy. , (Italy)
  • 5 Division of Nephrology and Dialysis, Department of Medical and Surgical Specialties, Radiological Sciences and Public Health, University of Brescia and ASST Spedali Civili Brescia, Brescia, Italy. , (Italy)
Published Article
The Journal of Clinical Endocrinology & Metabolism
The Endocrine Society
Publication Date
Aug 25, 2020
DOI: 10.1210/clinem/dgaa587
PMID: 32841328


Apo A-I Leu75Pro is a rare hereditary form of amyloidosis, that mainly involves the kidney, the liver, and the testis. To define the characteristics of organ damage and testis impairment in the largest cohort collected to date of men with Apo A-I Leu75Pro amyloidosis. Retrospective study from a prospectively collected database of 129 male subjects >18 years with Apo A-I Leu75Pro amyloidosis from reference center at the University Hospital of Brescia, Italy. We evaluated liver and renal function, scrotal ultrasound, reproductive hormone levels, testis biopsy, hypogonadal symptoms and fertility. Progressive involvement of testis, kidney, and liver was observed in 96/129 (74.4%) cases. Testis impairment was found in 88/129 patients (68.2%), liver in 59 (45.7%) and renal in 50 (38.8%). Testis damage was often the first manifestation of the disease and the only dysfunction in 30% of younger patients (&38 years). Testicular involvement was characterized mainly by primary (73/88 patients, 83.0%) and subclinical (8/88, 9.1%) hypogonadism. Almost all (85/88, 96.6%) had also high follicle stimulating hormone, suggesting a primary global damage of endocrine and spermatogenic functions, and 30% of them did not conceive. Macroorchidism was found in 53/88 patients (60.2%), especially in men &54 years (30/33, 90·9%). Apo A-I amyloid deposits were found in Sertoli cells, germinal epithelium and vessel walls. In men with Apo A-I Leu75Pro amyloidosis, testicular involvement is the hallmark of the disease, characterized by global primary testicular dysfunction and macroorchidism, due to amyloid deposits. © Endocrine Society 2020. All rights reserved. For permissions, please e-mail: [email protected]

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