1/32. Secondary infertility as early symptom in a man with multiple endocrine neoplasia-type 1.multiple endocrine neoplasia-type 1 (MEN1) is an autosomal dominant familial cancer syndrome characterized by parathyroid hyperplasia, pancreatic endocrine tumours and pituitary adenomas. Here, we report a patient with a history of insulinoma who developed secondary infertility as a further symptom of the disease. When he was first examined at the age of 36 years, he complained of weakness, reduced libido and impotence. Laboratory evaluation revealed non-obstructive azoospermia and hyperprolactinaemia. In contrast to sexual activity and serum prolactin, semen quality did not significantly respond to bromocriptine therapy. During follow-up, a growing pituitary adenoma caused acromegaly with elevated serum concentrations of growth hormone, insulin-like growth factor 1 (IGF-1), and prolactin. After microsurgery of the tumour at the age of 44 years, sperm concentration persistently increased up to 5.6 x 10(6)/ml. In accordance with the clinical diagnosis of MEN1, DNA sequencing revealed a mutation in exon 2 of the menin gene which results in a truncated, inactive protein product. In conclusion, MEN1 with pituitary lesions may cause severe hypogonadism and infertility. Both hyperprolactinaemia and overproduction of growth hormone and IGF-1 seem to be involved in testicular dysfunction in the present case. The possible role of menin in the testis, however, remains to be elucidated.- - - - - - - - - - ranking = 1keywords = cancer (Clic here for more details about this article) |
2/32. Successful pregnancy by intracytoplasmic sperm injection after radiotherapy-induced azoospermia.A 27-year-old male, who underwent excision and radiotherapy for a pineal gland germinoma four years previously, subsequently developed panhypopituitarism and, thus, complete azoospermia. Gonadotrophin replacement therapy resulted in the production of a small number of motile spermatozoa which were used for Intracytoplasmic Sperm Injection (ICSI) into oocytes obtained from his wife. After successful fertilization and embryo transfer, a singleton intrauterine pregnancy was achieved which resulted in the normal delivery of a morphologically normal male live infant at term.- - - - - - - - - - ranking = 1334.4831664504keywords = germ (Clic here for more details about this article) |
3/32. fluorescence in-situ hybridization of sex chromosomes in spermatozoa and spare preimplantation embryos of a Klinefelter 46,XY/47,XXY male.It has been suggested recently that 47,XXY germ cells are able to progress through meiosis to produce hyperhaploid spermatozoa. We report on a 46,XY/47,XXY Klinefelter patient whose spermatozoa were recovered from the ejaculate and used for intracytoplasmic sperm injection (ICSI). fluorescence in-situ hybridization (FISH) analysis of the patient's spermatozoa and of spare preimplantation embryos with dna probes specific for chromosomes X, Y and 18 revealed sex chromosome hyperploidy in 3.9% of the sperm nuclei analysed (2.23% XY18, 1.12% XX18, 0.56% YY18), while only three out of 10 spare embryos analysed were normal for chromosomes tested. The abnormalities included two diploid mosaic embryos with the majority of the blastomeres normal for the chromosomes tested, and five embryos with mostly abnormal blastomeres and chaotic chromosome X, Y and 18 patterns. None of the embryos analysed showed a XXY1818 or XXX1818 chromosome complement. The frequency of sex chromosome hyperploidy in the spermatozoa of the mosaic Klinefelter patient was higher than the mean reported for karyotypically normal males, supporting the hypothesis that 47,XXY germ cells are able to complete meiosis and produce aneuploid spermatozoa. However, most of the spermatozoa analysed were normal for sex chromosomes, and ICSI of the patient's spermatozoa did not result in a spare embryo with a uniform 47,XXY or 47,XXX chromosome complement. Instead, fertilization produced a high percentage of mosaic embryos with chaotic chromosome arrangements.- - - - - - - - - - ranking = 18724.101561369keywords = germ cell, germ (Clic here for more details about this article) |
4/32. Male infertility caused by a de novo partial deletion of the DAZ cluster on the y chromosome.Deletions in distal Yq interval 6 represent the cause of 10-15% of idiopathic severe male infertility and map to a region defined AZFc (azoospermia factor c). The testis-specific gene DAZ is considered a major AZFc candidate, and its deletion has been associated with a severe disruption in spermatogenesis. However, DAZ is actually a multicopy gene family consisting of seven clustered copies spanning about 1 megabase. Only deletions removing the entire DAZ gene cluster together with other genes have been reported in infertile males. Because no case of spermatogenic failure has been traced to intragenic deletions, point mutations, or even deletions not involving all the DAZ copies, the definitive proof for a requirement of DAZ for spermatogenesis is still debatable. Here we report the first case of a partial deletion of the DAZ cluster removing all but one of the copies. This deletion is present in a patient affected with severe oligozoospermia who had a testicular phenotype characterized by a great quantitative reduction of germ cells (severe hypospermatogenesis). The absence of this deletion in the fertile brother of the patient suggests that this de novo mutation indeed caused the spermatogenic failure.- - - - - - - - - - ranking = 9362.0507806844keywords = germ cell, germ (Clic here for more details about this article) |
5/32. prenatal diagnosis of meconium peritonitis in a twin pregnancy after intracytoplasmic sperm injection. A case report.BACKGROUND: meconium peritonitis occurring in pregnancies following artificial reproductive techniques (art) is rare. We report the first case of meconium peritonitis following intracytoplasmic sperm injection (ICSI). CASE: A 37-year-old woman attended our in vitro fertilization (IVF) program because her husband suffered from hypospermatogenetic azoospermia due to cancer surgery and radiotherapy. The patient achieved a twin pregnancy through ICSI from testicular sperm extraction at our IVF center. meconium peritonitis, fetal ascites, polyhydramnios, bowel dilatation, hydrocele and intraabdominal calcification were noted in one of the twins on ultrasound at 30 weeks' gestation. cesarean section due to breech presentation in labor was performed at 36 weeks' gestation. A normal female and male infant with a distended abdomen were delivered. Emergency laparotomy was performed on the male twin because of dyspnea. A 0.2-cm perforation was found in the terminal ileum. Ileotomy was performed and closed after 27 days. CONCLUSION: prenatal diagnosis of meconium peritonitis is possible through careful ultrasonographic examination, and early surgical intervention and intensive postoperative support are required to improve the prognosis.- - - - - - - - - - ranking = 1keywords = cancer (Clic here for more details about this article) |
6/32. Successful treatment of retrograde ejaculation with sperm recovered from bladder washings. A report of two cases.BACKGROUND: Retrograde ejaculation causes < 2% of male infertility but is the leading cause of aspermia. The incidence of retrograde ejaculation is increasing due to the aggressiveness of modern urologic cancer surgery and an increase in diabetes mellitus. Generally, the only adverse effect is on fertility. Various approaches have been proposed for treatment, ranging from insemination with sperm-rich urine obtained after masturbation to intracytoplasmic sperm injection (ICSI). We used a protocol involving bladder washing. CASES: Case 1 involved a man with retrograde ejaculation secondary to a successful right orchiectomy and retroperitoneal lymph node dissection for stage B1 embryonal cell carcinoma. He was treated with bladder washing and intrauterine insemination. He fathered three children from six insemination cycles. Case 2 involved a man with idiopathic retrograde ejaculation and a wife with ovulatory dysfunction. He received treatment similar to that in case 1 and fathered one child from two insemination cycles. CONCLUSION: Larger studies need to be done specifically comparing treatments. Our method resulted in four normal infants in two couples over eight total insemination cycles and, taken together with other results from the literature, seems a good choice for clinicians who are treating retrograde ejaculation for the first time. We agree with others who have recommended that in vitro fertilization/ICSI not be the first step for treating the usual couples with retrograde ejaculation.- - - - - - - - - - ranking = 1keywords = cancer (Clic here for more details about this article) |
7/32. 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.- - - - - - - - - - ranking = 18703.432945837keywords = germ cell, germ (Clic here for more details about this article) |
8/32. Testicular sperm extraction in a patient with metachronous bilateral testicular cancer.A new indication for testicular tissue cryopreservation is demonstrated in a patient with metachronous bilateral testicular tumours and azoospermia. At the age of 18 (1982) the patient underwent left orchidectomy and radical retroperitoneal lymphadenectomy for a testicular teratoma (pT1N0M0). Semen samples were not cryopreserved because of absence of motile spermatozoa after thawing. Seventeen years after the primary testicular cancer, a seminoma of the contralateral right testis was diagnosed (pT1N0M0). Since the patient was azoospermic, no semen samples could be cryopreserved. However, spermatozoa were detected in testicular biopsy material of the right testis and were cryopreserved for ICSI. Since all spermatozoa were dead after thawing, testicular sperm extraction (TESE) was performed in the remaining tissue samples at the time of ICSI treatment. Only spermatids could be extracted from frozen-thawed samples due to the inhomogeneous distribution of spermatogenic activity in the testicular tissue. Although one oocyte was fertilized with these spermatids, a clinical pregnancy was not achieved. Despite the disappointing results of ICSI in the couple presented here, this case report demonstrates that cryopreservation of testicular tissue and TESE should be considered in patients with bilateral testicular tumours and azoospermia, if frozen semen samples are not available.- - - - - - - - - - ranking = 5keywords = cancer (Clic here for more details about this article) |
9/32. Molecular and cytogenetic characterization of two azoospermic patients with X-autosome translocation.PURPOSE: To report two azoospermic patients with reciprocal X-autosome translocations. methods: cytogenetic analysis utilizing GTG-banding and Yq microdeletions shown by polymerase chain reaction (PCR) with 12 sequence-tagged site (STS) markers for y chromosome microdeletions. RESULTS: cytogenetic analysis showed one man with 46,Y,t(X;19)(q22;q13.3) and the other with 46,Y,t(X;8)(p22;q11). Neither had any Yq microdeletions shown. The patient with 46,Y, t(X;8)(p22;q11) showed a slightly lower than normal testosterone level. By NCBI-Blast search, we found four testis-specific genes, t-complex-associated-testis-expressed 1-like (TCTE1L), Ferritin, heavy polypeptide-like 17 (FTHL17), testis expressed sequence 13A (TEX13A), and testis expressed sequence 13B (TEX13B) located near breakpoints on X chromosome. FTHL17, TEX13A, and TEX13B are spermatogonially-expressed, germ-cell-specific genes. CONCLUSION: This is the first clinical report of azoospermia with reciprocal X-autosome translocations on Xp22 and q22. These translocations on Xp22 and q22 may be direct genetic risk factors for azoospermia.- - - - - - - - - - ranking = 1334.4831664504keywords = germ (Clic here for more details about this article) |
10/32. Progressive depletion of germ cells in a man with nonmosaic Klinefelter's syndrome: optimal time for sperm recovery.We describe a sequential deteriorated change of sperm count in a 30-year-old infertile man with nonmosaic Klinefelter's syndrome. His initial semen analysis revealed oligozoospermia; however, the sperm count decreased progressively, which resulted in azoospermia over a period of 3 years. By testicular sperm extraction, a few spermatozoa were recovered. We analyzed the germ cells with three-color fluorescence in situ hybridization, and the presence of a 46,XY lineage was found. We suggest that progressive depletion of germ cells might occur in men with nonmosaic Klinefelter's syndrome and that these men should undergo semen cryopreservation or sperm recovery as early as possible.- - - - - - - - - - ranking = 56172.304684106keywords = germ cell, germ (Clic here for more details about this article) |
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