Cases reported "Oligospermia"

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1/15. Deletion of y chromosome involving the DAZ (deleted in azoospermia) gene in XX males.

    The testicular histology and the presence or absence of 32 Y DNA loci was investigated, with a focus on the long arm of y chromosome (Yq) interval 6, by means of a polymerase chain reaction strategy in 2 XX males. seminiferous tubules lined by only sertoli cells and a slight thickening of tubular walls were observed. The men showed an absence of 32 Y DNA loci. These facts suggest that severe spermatogenic impairment is caused by deletions of Yq interval 6 in XX males.
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keywords = tubule
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2/15. Identification of seminiferous tubule aberrations and a low incidence of testicular microliths associated with the development of azoospermia.

    OBJECTIVE: To evaluate the use of percutaneous testicular sperm aspiration in the assessment of azoospermia and its association with seminiferous tubule microliths. DESIGN: Case report. SETTING: Tertiary care fertility center in a university hospital. PATIENT(S): male undergoing infertility evaluation. INTERVENTION(S): Testicular biopsy and percutaneous testicular aspiration. MAIN OUTCOME MEASURE(S): serum hormone analysis, sperm concentration in semen, spermatogenesis in samples from testicular biopsies and aspirations, and microlith composition. RESULT(S): A patient presented for infertility evaluation with a history of severe oligospermia that progressed to azoospermia. The serum testosterone concentration (357 ng/dL) and LH concentration (9.2 mIU/mL) were normal and the serum FSH concentration (18.3 mIU/mL) was elevated. Testicular biopsy results indicated spermatogenic hypoplasia with limited spermatozoa. seminiferous tubules obtained by percutaneous testicular aspiration were structurally aberrant, with multiple diverticula. Microliths averaging 120 microm in diameter were observed within and blocking the seminiferous tubules. The microliths were composed of calcium phosphate (hydroxyapatite) in both the core and peripheral regions. Electron microscopy revealed a high degree of collagen-like material within the peripheral zone. CONCLUSION(S): The presence of seminiferous tubule microliths is associated with the development of azoospermia. In patients with a low incidence of seminiferous tubule microliths and aberrant seminiferous tubule architecture, percutaneous testicular aspiration may provide a diagnostic advantage over testicular biopsy.
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ranking = 4177.546482663
keywords = seminiferous tubule, tubule
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3/15. 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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4/15. 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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5/15. azoospermia due to testicular amyloidosis in a patient with familial mediterranean fever.

    We describe a patient suffering from familial mediterranean fever (FMF) who presented to our clinic with secondary infertility of 2 years due to amyloid A amyloidosis. His spermiogram disclosed azoospermia. A testicular biopsy revealed hyalinized tubules devoid of full spermatogenesis and containing abundant amyloid, confirmed by congo red stain. We suggest that testicular amyloidosis be taken into consideration when dealing with azoospermic FMF patients. In view of the progressive nature of amyloid accumulation in the testis we propose to follow routinely the spermiogram of FMF patients with renal amyloidosis. Furthermore, consideration of sperm cryopreservation is suggested in these cases. In FMF patients with azoospermia consideration of testicular biopsy is recommended as early as possible in order to increase the chance of sperm retrieval.
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keywords = tubule
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6/15. Spontaneous regression over time of the germinal epithelium in a y chromosome-microdeleted patient: Case report.

    azoospermia factor (AZF) region microdeletions, which account for about 10-15% of patients with oligoazoospermia, seem to lack a close genotype-testicular phenotype correlation. Although many genetic and non-genetic factors may contribute to this outcome, it was thought that a spontaneous regression of testicular germ cells might also play a relevant role. The opportunity for carrying out two different testicular biopsies one year apart in an AZFc-microdeleted patient enabled corroboration of this possibility. Indeed, the first biopsy showed a spermatocyte maturation arrest with mean Johnsen scores of 4 and 3.9 in the right and left testes respectively. One year later, the right testicular biopsy showed a picture of sertoli cell-only syndrome in 90% of the tubules examined, and of spermatogonial maturation arrest in the remaining tubules, with a mean Johnsen score of 2.1. The almost complete absence of germinal cells was confirmed by four left testicular sperm aspirations (TESA), conducted at the same time as the biopsy during an intracytoplasmic sperm injection cycle, which showed the almost exclusive presence of sertoli cells (85% of the whole cell population). No spermatozoa could be retrieved by TESA or testicular biopsy. To our knowledge, this is the first case of a spontaneous regression of the germinal cell epithelium over time in a patient with a Yq microdeletion without the apparent intervention of any cause known to affect the germinal epithelium.
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ranking = 2
keywords = tubule
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7/15. An azoospermic male with an unbalanced autosomal-Y translocation.

    An azoospermic male with an unbalanced translocation between the y chromosome and chromosome 15 was examined in the present study. Testicular biopsy found only sertoli cells only within the seminiferous tubules of the 35-year-old patient. Chromosome analysis, using the techniques of G and C banding and fluorescent in situ hybridization revealed an abnormal karyotype of 46,XY,der(15)t(Y;15)(q12;p11). Deoxyribonucleic acid (DNA) analysis confirmed the presence of the genes such as DAZ and YRRM1 which are known to control spermatogenesis. The cause of spermatogenetic dysfunction in this particular patient therefore.
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ranking = 464.06072029589
keywords = seminiferous tubule, tubule
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8/15. Young's syndrome associated with situs inversus totalis.

    Primary ciliary dysfunction causes recurrent sino-pulmonary infections and shares the pathophysiology of the reproductive tract. A 34-year old man with bronchectasis and situs inversus totalis was investigated because of azoospermia. Endocrinological evaluations were all normal and scrotal exploration revealed the distended caput, but atrophic body to tail, of the epididymis. light microscopy of testicular biopsy showed normal spermatogensis and motile sperms were easily obtained by testicular sperm extraction. Electron microscopy demonstrated normal sperm structure, whereas 65% of nasal cilias showed defect of central microtubules. This case, which bears a resemblance of Kartagener's syndrome (situs inversus totalis), is considered a unique variant of Young's syndrome.
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keywords = tubule
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9/15. 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 = 464.06072029589
keywords = seminiferous tubule, tubule
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10/15. Deleted Yq in the sterile son of a man with a satellited y chromosome (Yqs).

    Disturbed spermatogenesis and azoospermia are reported in a man with a deleted Y chromosome. The anomalous y chromosome appears in the karyotype as a small metacentric marker. In situ hybridisation using three different Y specific dna probes shows that deletion at Yq11 has resulted in loss of all distal heterochromatin. The sterility of the patient indicates loss also of the azoospermia factor (AZF) located at the Yq distal euchromatic/heterochromatic interface. Microspread and air dried meiotic preparations show a severe impairment of spermatogenesis but rare cells are seen to be progressing to the late prophase stage. The testicular histology shows most of the seminiferous tubules to be completely hyalinised. The father and a fertile brother of the proband show a satellited y chromosome (Yqs) in their karyotypes. The case appears to be the first of its kind reported in which a father with a satellited y chromosome has produced a son carrying a different y chromosome anomaly. The possible derivation of the one from the other is discussed.
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ranking = 464.06072029589
keywords = seminiferous tubule, tubule
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