Cases reported "Infertility, Male"

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1/29. Testicular amyloid deposition as a cause of secondary azoospermia.

    We present a case of secondary infertility due to familial amyloidosis. The patient presented with azoospermia, and no other sequela of the disease. A testis biopsy revealed tubules demonstrating full spermatogenesis interspersed with hyalinized tubules containing amyloid, confirmed with congo red stain. A discussion regarding testicular amyloidosis is presented as well.
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keywords = tubule
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2/29. Chromosomal translocation 3;22 in an infertile man.

    OBJECTIVE: To present the first case of an infertile male with a normal phenotype and chromosomal translocation 3;22. DESIGN: Case report. SETTING: POVISA Medical Center. PATIENT(S): A 45-year-old man with primary infertility for 13 years and with different partners; the patient has a family history of recurrent miscarriages and low fertility. INTERVENTION(S): Lymphocytic karyotype and electron microscopy. MAIN OUTCOME MEASURE(S): physical examination and semen analysis. RESULT(S): The semen analysis revealed oligoasthenoteratospermia. The lymphocytic karyotype detected a translocation 3;22, and electron microscopy showed a lack of the central microtubule pair and peripheral doublet. CONCLUSION(S): An association between translocation 3;22 and other abnormalities in infertile males has been reported, but no such association has ever been described in men whose only clinical manifestation is infertility.
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keywords = tubule
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3/29. Infertile spermatozoa in a human carrier of robertsonian translocation 14;22.

    OBJECTIVE: To present the ultrastructural, functional, and chromosomal analyses of spermatozoa from an infertile man with normal phenotype and chromosomal translocation 14;22. DESIGN: Case report. SETTING: Regional Reference Center for male infertility in Siena, italy. PATIENT(S): A 36-year-old man with primary infertility for 3 years and his parents. INTERVENTION(S): family history and lymphocytic karyotypes, physical and hormonal assays, and semen analysis. MAIN OUTCOME MEASURE(S): Morphological sperm evaluation was performed by light, fluorescent, and electron microscopy; chromosomal constitution was examined by the fluorescence in situ hybridization (FISH) technique. The penetration ability of spermatozoa was checked by the hamster test. RESULT(S): The spermatozoa of the patient showed unusual ultrastructural defects. The nuclei were large, spheroidal, and generally uncondensed; the acrosomes were frequently absent or reduced; and the axonemes were often devoid of dynein arms or central singlet tubules. These characteristics are related to immaturity. The lymphocytic karyotype revealed a robertsonian translocation 14;22 in the sterile patient and his mother. FISH sperm analysis demonstrated a high frequency of diploidy for the chromosome 18,XY. The hamster penetration test gave negative results. CONCLUSION(S): The unusual structural sperm immaturity is associated with the translocation 14;22. This chromosomal anomaly may therefore negatively influence the spermatogenesis; an interchromosomal effect on meiosis segregation is also suggested.
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keywords = tubule
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4/29. Sertoli cell inactivation by cytotoxic damage to the human testis after cancer chemotherapy.

    OBJECTIVE: To assess Sertoli cell involvement in postchemotherapy azoospermia. DESIGN: Case report. SETTING: teaching hospital. PATIENT(S): A 31-year-old azoospermic man who underwent cancer cytotoxic chemotherapy for non-Hodgkin's lymphoma at 13 years of age. INTERVENTION(S): Testicular biopsy specimens were obtained for sperm recovery in preparation for intracytoplasmic sperm injection. The biopsy specimens were evaluated by quantitative immunohistochemistry for the immature Sertoli cell markers cytokeratin 18 (CK-18) and D2-40. MAIN OUTCOME MEASURE(S): Extent of immature sertoli cells. RESULT(S): A fraction of sertoli cells (13%) in the atrophic tubules of this patient reexpressed the intermediate filament protein CK-18, which is normally absent after puberty, but not the D2-40 antigen, an Mr 40,000 a-linked membrane glycoprotein, whose loss of expression at puberty marks an irreversible step in Sertoli cell maturation. Tubules with normal spermatogenic progression lined by sertoli cells negative for CK-18 were also observed. CONCLUSION(S): A fraction of sertoli cells of this patient initially progressed to full maturation at puberty and reverted to a dedifferentiated state marked by reexpression of CK-18 as a consequence of chemotherapy. This inactivation of sertoli cells caused by the cytotoxicity of the chemotherapeutic drugs may have contributed to the spermatogenic impairment and resulting infertility.
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keywords = tubule
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5/29. An ultrastructural and immunocytochemical study of a rare genetic sperm tail defect that causes infertility in humans.

    OBJECTIVE: To characterize and describe the ontogenesis of a rare flagellar defect affecting the whole sperm population of a sterile man. DESIGN: Case report. SETTING: Regional referral center for male infertility in Siena, italy. PATIENT(S): A 28-year-old man with severe asthenozoospermia. INTERVENTION(S): Physical and hormonal assays, semen analysis, and testicular biopsy. MAIN OUTCOME MEASURE(S): Semen samples and testicular biopsies were analyzed by light and transmission electron microscopy; immunocytochemical study with anti-beta-tubulin and anti-AKAP 82 antibodies was performed to detect the presence and distribution of proteins. RESULT(S): Ultrastructural analysis of ejaculated spermatozoa and testicular biopsy revealed absence of the fibrous sheath in the principal-piece region of the tail. Fibrous sheath-like structures were observed in cytoplasmic residues and residual bodies released by spermatids in the seminiferous epithelium. Other anomalies observed were supplementary axonemes and mitochondrial helix elongation. These features were confirmed by immunocytochemical staining. CONCLUSION(S): This rare sperm tail defect, characterized by absence of the fibrous sheath, presence of supplementary axonemes, and an abnormally elongated midpiece, originates in the seminiferous tubules during spermiogenesis, as detected in testicular biopsy sections. These defects occur in the whole sperm population, and therefore a genetic origin could be suggested.
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ranking = 61.33799178202
keywords = seminiferous tubule, tubule
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6/29. "9 0" immotile spermatozoa in an infertile man.

    In this paper the peculiar case of an infertile man, possessing only normally shaped, but stiff and immotile spermatozoa is described. All the sperm are conventionally structured, with the constant characteristic of the absence of central tubules and projections forming the so-called central sheath. Electrophoretic analysis of the high molecular weight polypeptide chains attributed to dyneins shows the constant absence of one chain. The importance of the central structure, usually belonging to the "9 2" model spermatozoa, and the possible localization of a dynein chain in this region are discussed.
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keywords = tubule
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7/29. From spermatocytes to spermatozoa in an infertile XYY male.

    Sex chromosome distribution and aneuploidy as well as germ cell degeneration were evaluated in meiotic and post-meiotic cells from an infertile XYY male. Sex chromosome distribution was assessed by multicolour fluorescence in situ hybridization on meiotic preparations. Post-meiotic cell aneuploidy was characterized by a method combining multicolour fluorescence in situ hybridization and immunocytochemistry using the proacrosin-specific monoclonal antibody (mAb 4D4). TUNEL assay was carried out on seminiferous tubules to evaluate germ cell degeneration. At the prophase stage of the first meiotic division, 63.64% of cells at the pachytene stage carried three sex chromosomes. The ratio of X-bearing to Y-bearing spermatids and spermatozoa differed significantly from 1 : 1 with an excess of Y-bearing spermatids and spermatozoa. The frequency of hyperhaploid XY spermatids was increased in the XYY male, as well as the incidence of YY, XY and disomic 18 ejaculated spermatozoa. A preferential elimination of germ cells by apoptosis occurred in spermatocytes I. The persistence of the extra y chromosome during meiosis of an XYY male is associated with a high rate of spermatocyte I degeneration and a low rate of aneuploid spermatozoa.
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ranking = 61.33799178202
keywords = seminiferous tubule, tubule
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8/29. Testicular tumour with features of sex cord tumor with annular tubules associated with cryptorchidism and infertility--a case report.

    Sex cord tumor with annular tubules (SCTAT) is a rare tumor seen in the ovary usually associated with peutz-jeghers syndrome. Testicular SCTAT are more infrequent and only four such cases have been reported in the literature. A 28-year-male presented with infertiliy. He had a history of orchiopexy 10 years back for right-sided inguinal testes. A right testicular biopsy done to investigate the cause of infertility revealed testicular atrophy with a focus suspicious of SCTAT. The right-sided orchiectomy revealed two firm nodules of 0.5 and 0.2 cms of SCTAT and sertoli cell nodule (SCN) respectively on microscopy. He did not have any features of Peutz-Jeghers or any other dysgenetic syndrome. He is asymptomatic after follow up of 26 months. This is the fifth case of testicular SCTAT and the first with SCN.
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ranking = 2.5
keywords = tubule
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9/29. Short arm dicentric y chromosome in a sterile man: a case report.

    A short arm dicentric y chromosome as the predominant cell line in a sterile man is reported. We studied a 33-year-old sterile man whose seminiferous tubules had only sertoli cells. Chromosomal analysis, using G, Q and C-banding techniques, showed that the predominant cell line had a short arm dicentric y chromosome. By the deoxyribonucleic acid probe pHY10, the lack of the gene corresponding to the Yq heterochromatic and distal Yq euchromatic region was detected. It is suggested that the gene controlling spermatogenesis is located on the distal euchromatic region on Yq.
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ranking = 61.33799178202
keywords = seminiferous tubule, tubule
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10/29. Chronological and structural disorder of the spindle-shaped body during human spermatid differentiation.

    In a testicular biopsy of an infertile man, most of the spermatids revealed a lack of the middle piece because of a malformed or untimely occurring spindle-shaped body. When during spermatid differentiation the spindle-shaped body appeared, it contained the typical bundles of tubules but was often reduced in size and arranged only unilaterally to the axoneme. After the disappearance of the incomplete spindle-shaped body, the annulus did not descend, the ribs of the fibrous sheath of the principal piece were found far proximally and the mitochondrial sheath of the middle piece could not be formed. In consequence of this faulty development, the spermatozoa were immotile.
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ranking = 0.5
keywords = tubule
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