1/31. 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 = testis, cancer (Clic here for more details about this article) |
2/31. 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 = 1.9978508949669keywords = testis (Clic here for more details about this article) |
3/31. Compound genetic factors as a cause of male infertility: case report.A 40 year old healthy Chinese male with primary infertility was seen in a university male infertility and genetic counselling clinic. He presented with congenital bilateral absence of the vas deferens (CBAVD) and the finding of testis atrophy. Fine needle aspiration mapping of the testis identified and localized sperm production within the testicles for in-vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI). Careful evaluation of testicular cytology revealed late maturation arrest of spermatogenesis. cystic fibrosis gene mutation analysis revealed heterozygosity for the 5T variant within the polypyrimidine tract of intron 8. cytogenetic analysis revealed a pericentric inversion of chromosome 6 with break points at p12 and q21 [46,XY,inv(6)(p12q21)]. This case illustrates that spermatogenesis is not necessarily normal with congenital bilateral absence of the vas deferens. Compound genetic defects may coexist and underlie male infertility.- - - - - - - - - - ranking = 1.9978508949669keywords = testis (Clic here for more details about this article) |
4/31. Birth after treatment of a male with seminoma and azoospermia with cryopreserved-thawed testicular tissue.The case of an infertile couple in which a testicular seminoma and azoospermia were discovered in the husband during infertility treatment is described. A small piece of testicular tissue, obtained by biopsy from the healthy testis [testicular sperm extraction (TESE)], was deep-frozen before oncology therapy was initiated. The patient's lymphocyte karyotype was normal and no Y microdeletions were found. After conclusion of oncology treatment, the tissue was thawed and successfully used in the intracytoplasmic sperm injection (ICSI) procedure. A healthy girl was born. Testicular tumours are known to impair fertility in the majority of patients, and fertility deteriorates further after cytotoxic and surgical oncology treatment. Until recently in slovenia, for young oncology patients cryopreservation was applied only to high quality ejaculate fulfilling the criteria for intrauterine insemination or in-vitro fertilization after thawing. Failing that, the only remaining options were fertilization by donor spermatozoa or child adoption. New assisted reproductive technologies, of which the ICSI procedure is the most successful, are suitable for the treatment of only the most severe cases of male infertility. It is reasonable to cryopreserve even poor quality ejaculate prior to the oncology therapy, as well as testicular tissue in cases of azoospermia.- - - - - - - - - - ranking = 0.99892544748347keywords = testis (Clic here for more details about this article) |
5/31. PCR analysis of Y-chromosome sequences in a 45,X male patient and a review of the literature.The 45,X karyotype is usually associated with turner syndrome, while male phenotype is exceptional. The authors report a 45,X male patient with normal external genitalia and sex behavior, but who was azoospermic. He had a normally developed musculature and pilose distribution, testicular volume of 15 mL and no gynecomastia but clinical stigmata of turner syndrome (short stature, short neck and 4th metacarpal bones) and azoospermia. Hormonal plasma levels of testosterone, estradiol, prolactin, and gonadotrophins were within the normal range as was the response of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) (30 and 60 min) after 100 microg iv of LH-RH administration. Testicular biopsy could not be performed. karyotype was 45,X without evidence of mosaicism. Polymerase chain reaction of genomnic dna studied with 12 different sequences of y chromosome revealed only the presence of SRY gene (testis determining factor). It is possible that SRY/autosomal translocation had occurred in this patient. The study of 45,X male should be of great value in elucidating the complex mechanisms involved in normal male sex differentiation.- - - - - - - - - - ranking = 0.99892544748347keywords = testis (Clic here for more details about this article) |
6/31. 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.- - - - - - - - - - ranking = 0.99892544748347keywords = testis (Clic here for more details about this article) |
7/31. 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 = 0.99892544748347keywords = testis (Clic here for more details about this article) |
8/31. 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 = 0.0010745525165318keywords = cancer (Clic here for more details about this article) |
9/31. 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 = 0.0010745525165318keywords = cancer (Clic here for more details about this article) |
10/31. 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.- - - - - - - - - - ranking = 0.99892544748347keywords = testis (Clic here for more details about this article) |
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