학술논문
Testicular Involvement is a Hallmark of Apo A-I Leu75Pro Mutation Amyloidosis
Clinical Research Article
Clinical Research Article
Document Type
Report
Author
Source
Journal of Clinical Endocrinology & Metabolism. December 2020, Vol. 105 Issue 12, p1aa, 9 p.
Subject
Language
English
ISSN
0021-972X
Abstract
Apo A-I Leu75Pro amyloidosis (OMIM 105200) is a rare disease that is part of systemic hereditary amyloidoses, which are a heterogeneous group of autosomal dominant, variable penetrance, and heterogeneous onset [...]
Context: Apo A-I Leu75Pro is a rare hereditary form of amyloidosis that mainly involves the kidney, the liver, and the testis. Objective: 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. Design, Setting, and Patients: Retrospective study from a prospectively collected database of 129 male subjects >18 years with Apo A-I Leu75Pro amyloidosis from a reference center at the University Hospital of Brescia, Italy. Main outcome measures: We evaluated liver and renal function, scrotal ultrasound, reproductive hormone levels, testis biopsy, hypogonadal symptoms, and fertility. Results: 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 ( Conclusion: 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. Freeform/Key Words: amyloidosis, fertility, hypogonadism, testis, testosterone, apolipoprotein A-I
Context: Apo A-I Leu75Pro is a rare hereditary form of amyloidosis that mainly involves the kidney, the liver, and the testis. Objective: 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. Design, Setting, and Patients: Retrospective study from a prospectively collected database of 129 male subjects >18 years with Apo A-I Leu75Pro amyloidosis from a reference center at the University Hospital of Brescia, Italy. Main outcome measures: We evaluated liver and renal function, scrotal ultrasound, reproductive hormone levels, testis biopsy, hypogonadal symptoms, and fertility. Results: 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 ( Conclusion: 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. Freeform/Key Words: amyloidosis, fertility, hypogonadism, testis, testosterone, apolipoprotein A-I