• PMID: 18285420
• Gene Name: NAXE
• Condition: Spermatogenic and steroidogenic impairment, amyloidosis
• Association: Group 1 patients were younger than those of group 2. In group 1, eight had hypergonadotropic hypogonadism and five were normogonadic with high gonadotropins; in group 2 all subjects were hypogonadic. All men had low high-density lipoprotein values. Group
• Mutation: leucine-75-proline apolipoprotein A-I
• Population size: 25
• Population details: 25 testicular amyloidosis
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Spermatogenic and steroidogenic impairment, amyloidosis

Spermatogenic and steroidogenic impairment of the testicle characterizes the hereditary leucine-75-proline apolipoprotein a-I amyloidosis

Scalvini T, Martini PR, Gambera A, Tardanico R, Biasi L, Scolari F, Gregorini G, Agabiti Rosei E.

CONTEXT: The leucine-75-proline variant of apolipoprotein A-I leads to a new hereditary systemic amyloidosis involving mostly the liver and kidney. OBJECTIVE: The objective of the study was to examine the effects of this amyloidosis on testicular structure and function. DESIGN: This was an observational study in which patients with testicular amyloidosis were characterized. SETTING: The study was carried out at the Endocrinology Department of Brescia University. PATIENTS OR OTHER PARTICIPANTS: Over a 13-yr period, 25 patients were found to be affected by leucine-75-proline apolipoprotein A-I testicular amyloidosis. Thirteen had the testicle as the first or only organ involved (group 1); in 12 testicular damage followed that of other organs (group 2). INTERVENTIONS: There were no interventions. MAIN OUTCOME MEASURE: Hormone and lipidic profiles, semen analysis, echographic volume of testicles, testicular histology, and genetic analysis were carried out. RESULTS: Group 1 patients were younger than those of group 2. In group 1, eight had hypergonadotropic hypogonadism and five were normogonadic with high gonadotropins; in group 2 all subjects were hypogonadic. All men had low high-density lipoprotein values. Group 1 patients were macroorchid, whereas the testicular volume was at the highest limit in group 2 (group 1 vs. group 2, P < 0.05). All men in the first group and six in the second group were azoospermic; the remaining had oligoposia. Biopsies showed the germinal epithelium replaced by amyloid. Leydig cells were essentially preserved in normogonadic but not hypogonadic patients. CONCLUSIONS: This amyloidosis may determine infertility, macroorchidism, and hypogonadism. Endocrine impairment follows spermatogenic impairment. FAU - Scalvini, Tiziano AU - Scalvini T AD - Departments of Endocrinology and Andrology, University of Brescia, Brescia, Italy. FAU - Martini, Paola Rossana AU - Martini PR FAU - Gambera, Alessandro AU - Gambera A FAU - Tardanico, Regina AU - Tardanico R FAU - Biasi, Luciano AU - Biasi L FAU - Scolari, Francesco AU - Scolari F FAU - Gregorini, Gina AU - Gregorini G