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Spermatogenic and Steroidogenic Impairment of the Testicle Characterizes the Hereditary Leucine-75- Proline Apolipoprotein A-I Amyloidosis

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Spermatogenic and Steroidogenic Impairment of the Testicle Characterizes the Hereditary Leucine-75- Proline Apolipoprotein A-I Amyloidosis ORIGINAL ARTICLE Endocrine Care—Brief Report Spermatogenic and Steroidogenic Impairment of the Testicle Characterizes the Hereditary Leucine-75- Proline Apolipoprotein A-I Amyloidosis Tiziano Scalvini, Paola Rossana Martini, Alessandro Gambera, Regina Tardanico, Luciano Biasi, Francesco Scolari, Gina Gregorini, and Enrico Agabiti Rosei Departments of Endocrinology and Andrology (T.S., P.R.M.), Gynecological Endocrinology (A.G.), and Pathology (R.T.), and Divisions of Downloaded from https://academic.oup.com/jcem/article/93/5/1850/2598903 by guest on 25 September 2021 Infectious Diseases (L.B.) and Nephrology (F.S., G.G.), Spedali Civili, and Department of Medicine (E.A.R.), University of Brescia, 25123 Brescia, Italy 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 hypergona- dotropic 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 Ͻ 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. En- docrine impairment follows spermatogenic impairment. (J Clin Endocrinol Metab 93: 1850–1853, 2008) polipoprotein (Apo) A-I is the main protein of high-density Twelve Apo A-I variants are known to be responsible for A lipoprotein (HDL), which plays a key role in the delivery systemic amyloidosis, mainly involving the kidneys, heart, of cholesterol to steroidogenic tissues and in the reverse transport nerves, liver, and larynx (2). of cholesterol itself (1). Recently the new amyloidogenic variant Leucine-75-Proline 0021-972X/08/$15.00/0 Abbreviations: Apo, Apolipoprotein; HDL, high-density lipoprotein; Leu75Pro, leucine-75- Printed in U.S.A. proline; T, testosterone. Copyright © 2008 by The Endocrine Society doi: 10.1210/jc.2007-1656 Received July 25, 2007. Accepted February 12, 2008. First Published Online February 19, 2008 1850 jcem.endojournals.org J Clin Endocrinol Metab. May 2008, 93(5):1850–1853 J Clin Endocrinol Metab, May 2008, 93(5):1850–1853 jcem.endojournals.org 1851 (Leu75Pro), due to a thymine to cytosine transition in the Apo (Diagnostic Product Corp. Medical Systems, Genoa, Italy) for SHBG A-I gene, has been demonstrated to cause asymptomatic chole- (reagents by Diagnostic Products Corp., Los Angeles, CA). static hepatopathy and nephropathy (3, 4). Our laboratory participates in the External Quality Assessment Schemes (UK-NEQAS, Birmingham, UK) and Immunocheck (IFC-CNR- Testicular amyloidosis is rare. Recently isolated testicular EQAS, Pisa, Italy). amyloid deposits were found in two hypogonadic and infertile patients (5, 6) but also in a heterozygous man for a nondeter- mined type of familial amyloidosis, associated with an abnormal Results production of Apo A-I (7). Few cases of testicular involvement in patients affected by Table 1 shows the clinical characteristics of the two groups of primary systemic amyloidosis have been described, but in liter- patients at diagnosis. Men affected by testicular amyloidosis as ature the cases of early testicular involvement, preceding cardiac early or single manifestation of the disease were included in or multiple organ disease are purely anecdotal (8–11). group 1. Group 2 consisted of those with testicular disease after Downloaded from https://academic.oup.com/jcem/article/93/5/1850/2598903 by guest on 25 September 2021 Secondary involvement of the testicles during chronic inflam- other organ involvement: six renal; one hepatic; four renal and matory diseases or neoplasias is much more frequent (6, 9, hepatic; and one renal, hepatic, and adrenal. 12–13). The mean age of group 2 was significantly higher than The aim of this study is to examine the effects of systemic group 1. amyloidosis due to the Leu75Pro variant of ApoA-I on testicular On physical examination, 11 men in the first group (84.6%) structure and function. but only four in the second (33.3%) were macroorchid with testicles appearing smooth and tough. Group 1 came to observation due to infertility, reduced li- Subjects and Methods bido, erectile dysfunction, and gynecomastia, isolated or vari- ously associated, and only three by screening when a family Over a 13-yr period at the Endocrinology Department of Brescia Uni- member was affected. versity (Italy), 25 men were found to be affected by testicular amyloidosis All group 2 subjects were diagnosed by screening as being caused by the Leu75Pro variant of Apo A-I, and they were all included in the study. Thirteen had the testicle as the first or only organ involved patients with other organ damage. They complained of reduced (group 1), whereas in 12, testicular damage followed renal, hepatic, or libido, erectile dysfunction, but only 8.3% of infertility (Table 1). adrenal damage (group 2). Only five men in group 1 (38.5%) had managed to father, Medical history was collected and all patients had a physical exam- from 3 to 27 yr before the diagnosis of testicular amyloidosis, ination. Particular attention was paid to libido, erectile function, past whereas 11 (91.7%) men in group 2 had fathered, from 10 to 48 testicular pathologies, difficulty in fathering, and age of conception. All patients underwent an endocrine and lipidic profile, semen anal- yr before the onset of testicular disease. ysis, echographic evaluation of the testicles, testicular biopsies for his- Table 2 shows the clinical, endocrine, echographic, and lip- tological diagnosis, and DNA analysis. idic parameters of men with early and late testicular amyloidosis. Total testosterone (T), SHBG, LH, and FSH, cholesterol, triglycer- The first group of patients was divided into two subgroups: ides, and HDL cholesterol were measured at 0900 h in a fasting condi- normogonadic (n ϭ 5) and hypogonadic (n ϭ 8). The former tion. Free testosterone was calculated using the Vermeulen formula (14). Ultrasonographic evaluation was carried out by the same physician and were significantly younger than the latter. testicular volume was calculated using the Lambert formula (15). A vol- Normogonadic patients had normal testosterone levels with ume of 15–25 ml is considered normal (16). Semen analysis was read high gonadotropins, whereas the hypogonadic subjects had sig- using the World Health Organization criteria. nificantly lower androgen levels and higher gonadotropins (P Ͻ The same pathologist examined the biopsies after hematoxylin-eosin 0.05). and Congo-red staining under polarized light. An antibody panel against ␬- and ␭-chains, serum amyloid-A, fibrinogen, and apoA-I (Dako, Milan, Italy) was used on the paraffin-embedded sections to immunohisto- TABLE 1. Clinical characteristics of patients at diagnosis chemically characterize the amyloid deposits. DNA analyses were carried out using standard procedures and direct (group 1 with early or single testicular amyloidosis, group 2 sequencing was used to search for any Apo A-I mutation in the whole with testicular disease following other organ involvement) gene (3). A written informed consent was given by all patients and the insti- Clinical characteristics Group 1, % (n) Group 2, % (n) tutional review board approved the study. No. of patients 13 12 Mean age (yr) 39.5 Ϯ 9.6a 62.3 Ϯ 9.3 Statistical analysis Familiarity for amyloidosis 38.5% (5) 66.7% (8) Past testicular pathologies 30.8% (4) None All values were expressed as mean Ϯ SD. Student’s unpaired t test was used to compare the hormone levels, lipid parameters, and echographic Clinical macroorchidism 84.6%(11) 33.3% (4) measures of the different groups of patients. P Ͻ 0.05 was considered Infertility 61.5% (8) 8.3% (1) statistically significant. Reduced libido 61.5% (8) 83.4% (10) Erectile dysfunction 61.5% (8) 83.4% (10) Gynecomastia 46.1% (6) None Hormone assays Patients who fathered 38.5% (5) 91.7% (11) Hormones were determined by an automated analyzer using chemi- Age range at conception (yr) 22–36 25–49 luminescent immunoassay: the Architect System (Abboth Diagnostic Di- vision, Milan, Italy) for LH, FSH, and T (reagents by Ortho-Clinical Unpaired Student t test. Diagnostics, Amersham, UK); and Immulite Automated Analyzer 2000 a P Ͻ 0.01 group 1 vs. group 2. 1852 Scalvini et al. Testicular Amyloidosis due to Apo
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