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


METHODS
This was an observational study in which patients with testicular amyloidosis were characterized.


METHODS
The study was carried out at the Endocrinology Department of Brescia University.


METHODS
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).


METHODS
There were no interventions.


METHODS
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.
Scalvini
Tiziano
T
Departments of Endocrinology and Andrology, University of Brescia, Brescia, Italy.
Martini
Paola Rossana
PR
Gambera
Alessandro
A
Tardanico
Regina
R
Biasi
Luciano
L
Scolari
Francesco
F
Gregorini
Gina
G
Agabiti Rosei
Enrico
E
D000328:Adult; D000368:Aged; D028226:Amyloidosis, Familial / Q000473:pathology* / Q000503:physiopathology; D016632:Apolipoprotein A-I / Q000235:genetics*; D006801:Humans; D007930:Leucine / Q000235:genetics; D008055:Lipids / Q000097:blood; D008297:Male; D008875:Middle Aged; D011392:Proline / Q000235:genetics; D013091:Spermatogenesis; D013256:Steroids / Q000096:biosynthesis*; D013737:Testis / Q000473:pathology* / Q000503:physiopathology
D016632:Apolipoprotein A-I; D008055:Lipids; D013256:Steroids; D011392:Proline; D007930:Leucine