{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,18]],"date-time":"2026-01-18T06:51:04Z","timestamp":1768719064983,"version":"3.49.0"},"reference-count":40,"publisher":"The Endocrine Society","issue":"12","license":[{"start":{"date-parts":[[2020,8,25]],"date-time":"2020-08-25T00:00:00Z","timestamp":1598313600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,12,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Apo A-I Leu75Pro is a rare hereditary form of amyloidosis that mainly involves the kidney, the liver, and the testis.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>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.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Design, Setting, and Patients<\/jats:title>\n                  <jats:p>Retrospective study from a prospectively collected database of 129 male subjects &amp;gt;18 years with Apo A-I Leu75Pro amyloidosis from a reference center at the University Hospital of Brescia, Italy.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Main outcome measures<\/jats:title>\n                  <jats:p>We evaluated liver and renal function, scrotal ultrasound, reproductive hormone levels, testis biopsy, hypogonadal symptoms, and fertility.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>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 (&amp;lt;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%) also had 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 (60.2%) patients, especially in men &amp;lt;54 years (30\/33, 90.9%). Apo A-I amyloid deposits were found in Sertoli cells, germinal epithelium, and vessel walls.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>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.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgaa587","type":"journal-article","created":{"date-parts":[[2020,8,25]],"date-time":"2020-08-25T17:08:32Z","timestamp":1598375312000},"page":"e4758-e4766","source":"Crossref","is-referenced-by-count":5,"title":["Testicular Involvement is a Hallmark of Apo A-I Leu75Pro Mutation Amyloidosis"],"prefix":"10.1210","volume":"105","author":[{"given":"Andrea","family":"Delbarba","sequence":"first","affiliation":[{"name":"Unit of Endocrinology and Metabolism, ASST Spedali Civili Brescia, Brescia, 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