1/20. Intracytoplasmic sperm injection pregnancy with trisomy 20p and monosomy 22q in a newborn resulting from a balanced paternal translocation.In infertile men who carry a balanced reciprocal translocation, intracytoplasmic sperm injection (ICSI) may induce a pregnancy with an abnormal karyotype. This report describes a previously unreported paternal reciprocal translocation leading to a chromosomally unbalanced ICSI pregnancy. The triplet pregnancy resulted in 1 normal girl, 1 physically normal boy with the same balanced paternal translocation, and a severely malformed boy with trisomy 20p and monosomy 22q who died in the neonatal period.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/20. 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) |
3/20. male infertility associated with a unique 8;22 translocation.Proper evaluation of male infertility includes a careful history, physical examination, semen analysis, and karyotyping. Molecular cytogenetic analysis may also be necessary to further delineate the karyotype. Following the above approach, we found an apparently unique 8;22 translocation in a male patient with infertility but few other phenotypic manifestations. Delineating the exact genetic basis of infertility is important in view of the most recent advances in reproductive technology such as in vitro fertilization and intracytoplasmic sperm injection. patients utilizing these emerging techniques need to be properly counseled as to their risks of transmitting these chromosomal abnormalities to their offspring.- - - - - - - - - - ranking = 12.78716414263keywords = physical examination, physical (Clic here for more details about this article) |
4/20. diagnosis and treatment of klinefelter syndrome.Many physicians underestimate the prevalence of klinefelter syndrome and so fail to recognize its more obvious features. Increased awareness of its effects on physical, psychological, and social development should help to dispel persistent misconceptions about the condition and enable earlier diagnosis and more effective treatment.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/20. Should all infertile males undergo urologic evaluation before assisted reproductive technologies? Two cases of testicular cancer presenting with infertility.OBJECTIVE: To report two cases of testicular cancer in patients presenting with infertility. DESIGN: case reports. SETTING: University-affiliated urology practice. PATIENT(S): Two men presenting with infertility. INTERVENTION(S): Complete history and physical, hormonal assays, semen analysis, scrotal ultrasound, radical orchiectomy. MAIN OUTCOME MEASURE(S): Testicular pathology specimens. RESULT(S): Testicular cancer was diagnosed in two men sent to a urology clinic for infertility treatment. CONCLUSION(S): A thorough evaluation should be completed in all males in couples presenting with infertility.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/20. Significant medical pathology discovered during a male infertility evaluation.PURPOSE: Because a pregnancy can be achieved without a male infertility evaluation, some have questioned its usefulness. However, by bypassing a urological evaluation the man might not learn the cause of infertility and not be offered specific corrective therapy. In addition, men with subfertility may have a serious underlying medical or genetic problem that could also be overlooked. We determine the incidence of significant medical pathology discovered during a male infertility evaluation at 2 academic infertility practices. MATERIALS AND methods: All men examined for either primary or secondary infertility were included in our study, while men seen for vasectomy reversal were not. All patients underwent evaluation, consisting of a complete history, physical examination, semen analysis, hormone testing, urinalysis and genetic testing when appropriate. RESULTS: Significant medical pathology was discovered in 33 of 536 (6%) patients. A total of 27 patients had genetic abnormalities, including cystic fibrosis mutations in 24 and karyotypic abnormalities in 3. Of the remaining 6 patients 1 had testis cancer, 1 prostate cancer, 3 diabetes mellitus and 1 hypothyroidism. CONCLUSIONS: Significant medical pathology can be detected by a male infertility evaluation. In addition to identifying the cause of infertility, the evaluation may uncover conditions that threaten the health of the male partner or any potential offspring.- - - - - - - - - - ranking = 12.78716414263keywords = physical examination, physical (Clic here for more details about this article) |
7/20. 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.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/20. Transrectal ultrasound and partial ejaculatory duct obstruction in male infertility.Partial ejaculatory duct obstruction, due to either a congenital or an acquired cyst or ejaculatory duct stenosis secondary to calcification, chronic inflammation, can produce a wide spectrum of seminal fluid abnormalities. Sperm density may range from azoospermia to normospermia while ejaculate volume can be low to normal. sperm motility is consistently diminished (less than 30%). We have treated 2 patients with ejaculatory duct stenosis whose diagnosis was accurately made with transrectal ultrasonography (TRUS). We now suggest that TRUS be used when there is a low semen volume (less than 1.0 cc), or low motility (less than 30%), or oligospermia (less than 20 million sperm/mL), and normal findings on physical examination with normal serum gonadotropin values in the absence of any other explanation.- - - - - - - - - - ranking = 12.78716414263keywords = physical examination, physical (Clic here for more details about this article) |
9/20. 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 = 12.78716414263keywords = physical examination, physical (Clic here for more details about this article) |
10/20. 46 XX male syndrome: a case report.INTRODUCTION: 46 XX male syndrome (de la Chapelle syndrome) is a rarely seen genetic disorder causing male infertility. It is generally a result of unequal crossing over between X and Y chromosomes. CASE REPORT: A 26-year-old infertile male was referred to the urology Department. He had normal external male genital phenotype and secondary sex characters. No gynecomastia was noted. At physical examination soft and atrophic testes were palpated. Laboratory analysis and testis biopsies indicated nonobstructive azospermia. Chromosomal analysis showed 46 XX karyotype. CONCLUSION: In the literature, there are various phenotypic properties of 46 XX male patients. Thus, translocation of the sex determining region (SRY) the gene probably cannot be the only reason for XX male syndrome. There might be some other abnormalities leading to de la Chapelle syndrome.- - - - - - - - - - ranking = 12.78716414263keywords = physical examination, physical (Clic here for more details about this article) |
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