1/8. 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 = extraction (Clic here for more details about this article) |
2/8. 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 = 1keywords = extraction (Clic here for more details about this article) |
3/8. Congenital malformations after intracytoplasmic injection of spermatids.Spermatid microinjection into oocytes was applied in cases of intracytoplasmic sperm injection (ICSI)/testicular sperm extraction (TESE) where no spermatozoa could be found in numerous testicular samples. Although several pregnancies were obtained with this procedure, serious concerns remain regarding its safety. Although the relevance of the injection of spermatids is by no means certain, we wish to report that from four pregnancies obtained after injection of elongated spermatids, two cases of major malformation resulted.- - - - - - - - - - ranking = 1keywords = extraction (Clic here for more details about this article) |
4/8. Twin pregnancy achieved through TESE in an adult male exstrophy.bladder exstrophy is a rare anomaly, it compromises bladder functions, and in males it occurs with an impairment of reproductive functions, because of erectile and ejaculatory deficit. Advancements in the surgical treatment of bladder exstrophy have allowed an improvement of the bladder functions while spontaneous conception is still impaired. This is a case report of a pregnancy and subsequent birth of twins following testicular sperm extraction, on a man born with classical bladder exstrophy with infertility due to an ejaculation.- - - - - - - - - - ranking = 1keywords = extraction (Clic here for more details about this article) |
5/8. Testosterone-induced priapism in klinefelter syndrome.We present the case of a patient with klinefelter syndrome and priapism after testosterone administration. The patient underwent testicular sperm extraction for interventional fertilization, but no sperm were found. Because he had given up trying to father a child and his testosterone level had been low, testosterone replacement therapy was started with testosterone enanthate. After the third injection, he presented with low-flow priapism. Conservative management was successful, and no recurrence developed during the next 15 months. Testosterone replacement therapy carries some risk of priapism even for patients with klinefelter syndrome.- - - - - - - - - - ranking = 1keywords = extraction (Clic here for more details about this article) |
6/8. adult onset of declining spermatogenesis in a man with nonmosaic Klinefelter's syndrome.OBJECTIVE: To examine an unusual case of Klinefelter's syndrome. DESIGN: Case report. SETTING: An infertility clinic at a private hospital. PATIENT(S): A patient with nonmosaic Klinefelter's syndrome who had had a child with his ex-wife without artificial reproductive technologies. INTERVENTION(S): karyotyping with peripheral blood lymphocytes, microdissection testicular sperm extraction, and intracytoplasmic sperm injection (ICSI). MAIN OUTCOME MEASURE(S): sperm count and testicular histopathology. RESULT(S): semen analysis revealed severe oligoasthenozoospermia. Intracytoplasmic sperm injection using ejaculated spermatozoa was performed, and successful pregnancy and delivery were achieved. Two years later, multiple semen analyses revealed azoospermia. microdissection testicular sperm extraction was performed, and motile sperm were successfully retrieved. Unfortunately, the first cycle of ICSI using testicular sperm failed. Testicular histopathology was compatible with decreased spermatogenesis. CONCLUSION(S): This is a case of a man with nonmosaic Klinefelter's syndrome who exhibited progressive decline of spermatogenesis. This case suggests the merit of early sperm retrieval and cryopreservation for future management of infertility in Klinefelter's syndrome.- - - - - - - - - - ranking = 2keywords = extraction (Clic here for more details about this article) |
7/8. Genotyping of congenital adrenal hyperplasia due to 21-hydroxylase deficiency presenting as male infertility: case report and literature review.We describe here two infertile male patients who were referred to our hospital with azoospermia at the ages of 33 and 30 years, respectively. Hormonal examinations led to a diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency in both patients. Genotyping revealed that the patients had a homozygous I172N and a heterozygous compound I172N/IVS2-13A/C>G mutation, respectively. Glucocorticoid replacement therapy succeeded in improving the seminal status of one patient, but not the other. For the latter patient and his wife, a pregnancy was achieved by testicular sperm extraction (TESE) and intracytoplasmic sperm injection (ICSI) following genetic counseling. It is important to investigate genotyping and to classify patients on the basis of genotypic information in order to arrive at better treatment strategies for male infertility; especially in counseling of TESE-ICSI.- - - - - - - - - - ranking = 1keywords = extraction (Clic here for more details about this article) |
8/8. Seminal fluid androgen levels in infertile patients.Seminal fluid concentrations of testosterone (T), dihydrotestosterone (DHT), androstenedione (A), and 5 alpha-androstane-3 alpha, 17 beta-diol (3 alpha-diol) were measured in 34 male patients of infertile couples. patients were subdivided into oligospermic (less than 20 X 10(6)/mL) and asthenospermic (typical motility less than 20%; total motility less than 40%) groups. steroids were measured by specific radioimmunoassay after ether extraction and celite column chromatography. 3 alpha-Diol was present in seminal fluid, and its concentration was significantly correlated with DHT (r = .49, P less than .05). In oligospermic patients, seminal levels of T (78 /- 29 pg/mL, mean /- SD) and DHT (323 /- 132 pg/mL) were significantly reduced in comparison with normospermic men (T, 119 /- 56, P less than .05; DHT, 557 /- 255, P less than .01), while A and 3 alpha-diol concentrations were similar in the two groups. Seminal T and DHT levels were also reduced in asthenospermic specimens, which showed increased 3 alpha-diol concentrations (75 /- 44 pg/mL) with respect to normokinetic samples (45 /- 20, P less than .05). Finally, a positive linear relationship was observed between DHT and both sperm density (P less than .01) and total motility (P less than .01). These data demonstrate the existence of a significant amount of 3 alpha-diol in seminal plasma and suggest DHT as the androgen most closely related to sperm quality.- - - - - - - - - - ranking = 1keywords = extraction (Clic here for more details about this article) |