1/10. Three-generation evaluation of Y-chromosome microdeletion.Sperm cells can be retrieved directly from the testis (testicular sperm extraction [TESE] procedure) and used for intracytoplasmic sperm injection (ICSI), circumventing underlying spermatogenetic defects. Thus, it is important that added information be available on the genetic defects in men undergoing TESE for the ICSI procedure and on the transmission of genetic factors associated with infertility to the offspring. We report a three-generation genetic analysis of a family with a case of male factor infertility. The proband, previously diagnosed as infertile, was physically examined and laboratory tested for gonadotrophic hormones, semen analysis, karyotype and Y-chromosome microdeletion screening in the blood and testis. The Y-chromosome microdeletion screening was performed by multiplex polymerase chain reaction with 20 Y-chromosome sequenced, tagged sites located at the y chromosome. A microdeletion including the AZF-c region was detected in the azoospermic patient. His father, four brothers, and three offspring born after ICSI also underwent Y-chromosome microdeletion screening. The genetic analysis of the male members of the patient's family did not reveal similar microdeletions. The newborn male was found to bear a Y-chromosome microdeletion similar to that of his father. The fertilization capacity of the proband testicular microdeleted spermatozoa by the ICSI procedure is described. The transfer of the genetic defect raises the possibility that the son will have the same fertility problem as his father.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/10. Gene deletions in an infertile man with sperm fibrous sheath dysplasia.BACKGROUND: asthenozoospermia may sometimes be related to genetic structural defects of the sperm tail detectable by transmission electron microscopy. Dysplasia of the fibrous sheath (DFS) is a genetic sperm defect, characterized by dysplastic development of the axonemal and periaxonemal cytoskeleton. We report the case of an infertile man with normal sperm count and total sperm immotility in which dysplasia of the fibrous sheath, Akap3, Akap4 gene deletions, meiotic segregation of chromosomes 18, X and Y and Y microdeletions were investigated. methods: A 32-year-old man with a 3-year history of primary infertility presented at our Regional Referral Center for male infertility. family medical history, lymphocyte karyotype, PCR analysis, physical examination, hormone assays and semen analysis were performed. RESULTS: Ultrastructural sperm evaluation showed dysplasia of the fibrous sheath. Immunostaining of AKAP4 protein was negative in sperm tails. PCR analysis revealed intragenic deletions of the Akap3 and Akap4 genes. fluorescence in situ hybridization on sperm showed a high frequency of XY disomy. CONCLUSION: In this infertile patient, our results suggest a possible relationship between dysplasia of the fibrous sheath, partial deletions in the Akap3 and Akap4 genes and absence of AKAP4 protein in the fibrous sheath. These findings, however, were not detected in another four patients with dysplasia of the fibrous sheath. Our results require future confirmatory molecular analyses.- - - - - - - - - - ranking = 15.030043817189keywords = physical examination, physical (Clic here for more details about this article) |
3/10. Familial bilateral vas deferens agenesis.Two brothers with bilateral vas deferens agenesis are described, one of them with a chromosome mosaicism (46,XX/47,XXY). To our knowledge, there are not any previous reports of both conditions existing simultaneously. The patients consulted us because of infertility; they have normal sexual function, normal physical examination, but typical semen analyses with azoospermia, low semen volume, low pH, and negative fructose test. It appears to us that bilateral vas deferens agenesis may be genetic in origin in some patients.- - - - - - - - - - ranking = 15.030043817189keywords = physical examination, physical (Clic here for more details about this article) |
4/10. Hormone study in a case of klinefelter syndrome with an isochromosome Xq.We investigated the endocrine function of a patient with klinefelter syndrome in which the extra chromosome was an isochromosome Xq. This man was azoospermic but with normal secondary sex characteristics; smallness of the testes was the only abnormal physical finding. High follicle-stimulating hormone (FSH, 70 mIU/mL) and moderately elevated luteinizing hormone (LH, 40 mIU/mL) were found; the FSH and LH response to LH-RH was exaggerated. Androgen and estrogen levels were normal. The insulin test (measure of glycemia, growth hormone, and corticol) and the test with TRH (measure of TSH and prolactin) gave normal results. We conclude that the presence of additional long arms of the x chromosome is sufficient to cause klinefelter syndrome and that the presence of two extra Xq does not intensify the degree of androgenic insufficiency.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/10. Transvasovasostomy--an alternative operation for obstructive azoospermia.Five patients with obstructive azoospermia are presented. They were evaluated by a complete history, physical examination and semen analysis, including fructose studies, and serum testosterone and follicle-stimulating hormone determinations. A history or suspected history of epididymitis or prostatitis was identified in 4 patients and a history of iatrogenic obstruction was found in 3. All patients underwent testicular biopsy which showed normal spermatogenesis. A vasogram was crucial in determining the site of obstruction. All patients underwent transvasovasostomy through the scrotal septum. patients had encouraging postoperative sperm counts and fertility has been demonstrated by induction of pregnancy in 2 cases.- - - - - - - - - - ranking = 15.030043817189keywords = physical examination, physical (Clic here for more details about this article) |
6/10. Isolated FSH deficiency in a male. A case report.This report describes the case of a 26-year-old man investigated because of infertility. The patient appeared healthy with normal sexual activity, physical appearance and karyotype. Repeated semen analyses showed a marked oligozoospermia. A testicular biopsy specimen revealed arrested spermatogenesis and normal leydig cells. Hormone analyses were normal except for a markedly reduced serum FSH level. Only a few such cases have been previously reported.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/10. trisomy 8. Report of a mosaic human male with near-normal phenotype and normal IQ, ascertained through infertility.trisomy 8, in mosaic or non-mosaic form is an extremely rare chromosomal condition in man. Liveborn subjects usually present with mental retardation, bone and joint anomalies and a variety of other physical anomalies. The mental retardation associated with the condition is, however, usually moderate compared to that found in other viable human autosomal trisomic conditions. The present report describes a trisomy 8 mosaic male subject with normal IQ and near-normal phenotype, ascertained through infertility. Chromosome studies on peripheral blood lymphocytes reveal a pure trisomy 8 constitution; cultured skin fibroblasts show 46,XY/47,XY 8 mosaicism. At meiosis, the extra No. 8 chromosome is missing from the germ line. The testicular histology indicates a germ cell maturation arrest in many spermatocytes and the patient is severely oligospermic. Biochemical studies to assay levels of glutathione reductase, a red cell enzyme, the gene for which resides in chromosome 8, show increased levels in the trisomy 8 patient compared with controls.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/10. Significant medical pathology uncovered by a comprehensive male infertility evaluation.OBJECTIVE: To determine if there was a specific screening regimen that could identify all patients with significant medical pathology found during a comprehensive male infertility evaluation. DESIGN: A retrospective study. SETTING: Two university-based male infertility clinics. patients: Thirteen patients with male factor infertility identified with significant medical pathology. MAIN OUTCOME MEASURES: Initial presentation, history, physical examination, semen analysis, and hormone profile. RESULTS: The identification of significant medical pathology was uncovered in 13 of 1,236 patients (1.1%) presenting to a male infertility clinic. The pathology was identified with a thorough history in 4 of 13 patients (30.8%) and by a complete physical examination in 8 of 13 patients (61.5%). Semen analyses were available on 12 patients, and 1 patient was anejaculatory. Two patients were azoospermic. Of the patients with sperm present, the mean sperm concentration was 8.6 x 10(6)/mL (range, 0.8 to 27), and the mean sperm motility was 32.0% (range, 0% to 65%). In 5 patients, endocrine abnormalities were specifically related to the subsequent pathology identified. A tumor was identified in 10 patients (6 testicular tumors, 3 brain tumors, and 1 spinal cord tumor). Two patients had ejaculatory dysfunction as a result of mesonephric duct anomalies affecting the ejaculatory duct or bladder neck closure. One patient had Klinefelter's syndrome. CONCLUSIONS: There was no pathognomonic finding on history, physical examination, semen analysis, or hormone profile that identified all patients with significant medical pathology. The significant medical pathology identified was represented in all semen quality groupings, that is, azoospermia, severe oligospermia, mild oligospermia, and normospermia. We recommend a comprehensive urologic evaluation for all male partners of infertile couples with a male factor or unexplained infertility in an attempt to identify significant and potentially treatable medical pathology before engaging in a series of therapies with assisted reproductive techniques.- - - - - - - - - - ranking = 45.090131451568keywords = physical examination, physical (Clic here for more details about this article) |
9/10. Short stature and azoospermia in a patient with y chromosome long arm deletion.We report on a 42-year old male with short stature, azoospermia and a wide deletion of long arm of y chromosome. On physical examination, the patient showed height of 149 cm (< 1 degree centile) and reduced volume (3 ml) and consistency of the testes. On hormonal evaluation, he showed increased serum gonadotropins and normal serum testosterone levels though its HCG stimulated levels were limited. serum thyroid hormones were normal. serum GH levels in baseline evaluation as well as after GHRH and GHRH pyridostigmine administration were normal. serum IGF I levels were lower than normal in baseline evaluation whereas its response to the GH administration was in the normal range. The bilateral testicular biopsy showed tubular atrophy, hyalinosis, interstitial sclerosis and a histological picture of a Sertoli cell only syndrome. Moreover the patient showed arthropathy, otopathy, small chin, small mouth and truncal obesity. On genetic evaluation, the patient showed a 46,X,delY (pter--q11.1:) karyotype and loss of several dna loci on Yq. In fact he preserved short arm SRY, centromeric DYZ3 and more proximal euchromatic region Yq loci, including DYS270, DYS271, DYS272, DYS11, DYS273, DYS274, DYS148, DYS275, and missed more distal dna loci from DYS246 to DYZ2. These results disclosed a wide Y long arm deletion, including all hypothized Yq azoospermia loci (except for AZFa and probably for one of the RBM genes, which lie proximally to the deletion) and possibly the Y-specific growth control region (GCY), mapped between DYS11 and DYS246 loci. This deletion is responsible for the complete azoospermia of the patient and probably also for his short stature, even if other factors could be implicated in the statural impairment. It further possibly allowed to relate the GCY gene(s) to the control of GH or IGF-I receptor or post-receptor pathway, being the alteration of this gene(s) consistent with the hormonal pattern of the patient.- - - - - - - - - - ranking = 15.030043817189keywords = physical examination, physical (Clic here for more details about this article) |
10/10. Follitropin (FSH) deficiency in an infertile male due to FSHbeta gene mutation. A syndrome of normal puberty and virilization but underdeveloped testicles with azoospermia, low FSH but high lutropin and normal serum testosterone concentrations.We studied a man who sought medical attention at age 28 years because of infertility in both his first and second marriages. His sexual development appeared to have been normal, with normal puberty and virilization, and normal libido and sexual potency. At examination, his testicles were small and soft; otherwise he had a normal physical appearance. Evaluations revealed azoospermia, undetectable in serum before and after 100 microg of intravenously administered gonadotrophin releasing hormone, but moderately elevated lutropin concentration with a brisk rise after gonadotrophin releasing hormone. The alpha subunit concentration was normal before and after gonadotrophin releasing hormone; that of inhibin B was very low. Analysis of the follitropin beta gene, exon 3, revealed a Cys82 --> Arg mutation (TGT --> CGT). Judging from studies of the biosynthesis of the chorionic gonadotrophin beta subunit one may conclude that inability to form the first intramolecular disulphide bond in the follitropin beta subunit results in an abnormal tertiary structure during follitropin beta biosynthesis with extensive intracellular degradation of the products, inability to associate with the alpha subunit and defective glycosylation, as well as inability to form a biologically active hormone. This first male case of follitropin deficiency thus defines a new syndrome of male infertility.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
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