Unit of Endocrinology and Metabolism, ASST Spedali Civili Brescia, Brescia, Italy.
Department of Clinical and Experimental Sciences, Unit of Endocrinology and Metabolism, University of Brescia and ASST Spedali Civili Brescia, Brescia, Italy.
J Clin Endocrinol Metab. 2020 Dec 1;105(12). doi: 10.1210/clinem/dgaa587.
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.
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.
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%) 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 <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.
载脂蛋白 A-I 亮氨酸 75 脯氨酸是一种罕见的遗传性淀粉样变性，主要累及肾脏、肝脏和睾丸。
定义迄今为止收集到的最大队列中男性载脂蛋白 A-I 亮氨酸 75 脯氨酸淀粉样变性患者的器官损伤和睾丸损伤特征。
设计、地点和患者：回顾性研究，来自意大利布雷西亚大学医院参考中心前瞻性收集的数据库中 129 名年龄大于 18 岁的载脂蛋白 A-I 亮氨酸 75 脯氨酸淀粉样变性男性患者。
我们评估了肝脏和肾脏功能、阴囊超声、生殖激素水平、睾丸活检、低促性腺激素症状和生育能力。
96/129（74.4%）例患者观察到睾丸、肾脏和肝脏进行性受累。88/129 例（68.2%）患者存在睾丸功能障碍，59 例（45.7%）存在肝脏功能障碍，50 例（38.8%）存在肾脏功能障碍。睾丸损伤通常是疾病的首发表现，在 30%的年轻患者（<38 岁）中也是唯一的功能障碍。睾丸受累主要表现为原发性（73/88 例，83.0%）和亚临床（8/88 例，9.1%）性腺功能减退。几乎所有患者（85/88，96.6%）的卵泡刺激素水平均升高，提示内分泌和生精功能的原发性整体损伤，其中 30%的患者未能怀孕。88/88（96.6%）例患者发现巨睾症，尤其是<54 岁的男性（30/33，90.9%）。在 Sertoli 细胞、生殖上皮和血管壁中发现载脂蛋白 A-I 淀粉样沉积物。
在载脂蛋白 A-I 亮氨酸 75 脯氨酸淀粉样变性男性中，睾丸受累是疾病的特征，表现为由于淀粉样沉积物导致的原发性睾丸功能障碍和巨睾症。
