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Secretory azoospermia or non-obstructive azoospermia?  [cached]
J M Rigot
Folia Histochemica et Cytobiologica , 2010, DOI: 10.5603/4284
Abstract: In the non-obstructive azoospermia versus the secretory azoospermia it is first necessary to have a clear assessment and definition and then takes care of the patient before the surgical sampling taking into account the age of the woman and in fine try to optimize the residual spermatogenesis. Biopsy seems to be the "gold standard" in non-obstructive azoospermia. The mean level of retrieval (extracted) spermatozoa is of 50%, with 20% of pregnancy/cycle and 30% of delivery/coupe with a better success for frozen sperm samples.
Analysis of mutations in the cystic fibrosis transmembrane regulator (CFTR) gene in patients with obstructive azoospermia
Bernardino, Andrea L.F.;Lima, Cintia E.;Zatz, Mayana;
Genetics and Molecular Biology , 2003, DOI: 10.1590/S1415-47572003000100001
Abstract: congenital bilateral absence of the vas deferens (cbavd) accounts for 1%-2% of sterility in men. a high incidence of mutations, as well as the involvement of the 5t variant of the t tract length in intron 8 of the cystic fibrosis conductance regulator (cftr) gene, have been previously described in males with cbavd. herein we report the screening for mutations and for the 5t variant of the cftr gene in 17 patients with cbavd and three others with non-cabvd obstructive azoospermia. in the cbavd group, three patients (15%) were compound heterozygotes for mutations, and five patients (25%) had a mutation in one allele and the 5t variant in the other; the 5t variant was also present in two other patients, one of them being homozygous. the most frequent mutation was df508, present on five chromosomes (12.5%). a novel missense mutation (a399d) was detected in a japanese cbvad patient. our results yield further evidence for a strong association between male obstructive azoospermia caused by cbavd and mutation/5t variant in the cftr gene. the search for cftr mutations in such patients is thus recommended for genetic counseling of couples who undergo assisted fertilization due to cbavd.
Analysis of mutations in the cystic fibrosis transmembrane regulator (CFTR) gene in patients with obstructive azoospermia  [cached]
Bernardino Andrea L.F.,Lima Cintia E.,Zatz Mayana
Genetics and Molecular Biology , 2003,
Abstract: Congenital bilateral absence of the vas deferens (CBAVD) accounts for 1%-2% of sterility in men. A high incidence of mutations, as well as the involvement of the 5T variant of the T tract length in intron 8 of the cystic fibrosis conductance regulator (CFTR) gene, have been previously described in males with CBAVD. Herein we report the screening for mutations and for the 5T variant of the CFTR gene in 17 patients with CBAVD and three others with non-CABVD obstructive azoospermia. In the CBAVD group, three patients (15%) were compound heterozygotes for mutations, and five patients (25%) had a mutation in one allele and the 5T variant in the other; the 5T variant was also present in two other patients, one of them being homozygous. The most frequent mutation was DF508, present on five chromosomes (12.5%). A novel missense mutation (A399D) was detected in a Japanese CBVAD patient. Our results yield further evidence for a strong association between male obstructive azoospermia caused by CBAVD and mutation/5T variant in the CFTR gene. The search for CFTR mutations in such patients is thus recommended for genetic counseling of couples who undergo assisted fertilization due to CBAVD.
Malignant gastrointestinal stromal tumor of the ampulla of Vater presenting with obstructive jaundice  [cached]
Filippou Dimitrios,Pashalidis N,Skandalakis P,Rizos S
Journal of Postgraduate Medicine , 2006,
Abstract: Malignant gastrointestinal stromal tumor (GIST) consists a rare neoplasm, developing in small intestine and stomach. The presenting manifastations include weakness, weight loss, nausea, melena and anaemia. The present case refers to a 65 years old female patient with a GIST of the ampulla of Vater presenting with obstructive jaundice. Diagnosis was achieved pre-operatively by biopsies collected through diagnostic ERCP. The tumour was locally excised, with preservation of the ampulla. The histological analysis suggested low grade GIST positive for both CD 117 (c-kit) and CD34. Two years after the surgery the patient remains free of disease. Malignant GIST of the ampulla of the Vater is extremely rare as only few similar cases have been described in the literature. This is the first time a GIST being presented as obstructive jaundice ever reported. Despite the unavailability of EUS-FNA, the diagnosis was set preoperatively and the tumor was resected.
VACTERL/VATER Association
Benjamin D Solomon
Orphanet Journal of Rare Diseases , 2011, DOI: 10.1186/1750-1172-6-56
Abstract: VACTERL association (ORPHA887)VATER association (ORPHA887)VATER association was first named in the early 1970's. As initially described, the condition included the statistically non-random co-occurrence of a group of congenital malformations: Vertebral defects, Anal atresia, Tracheo-Esophageal fistula (TEF) with esophageal atresia, and Radial and Renal dysplasia [1,2]. Because these malformations were observed to occur together more often than would be expected by chance, the condition was termed an association. However, there was not (and still remains no) evidence for a single, unifying cause that would result in the condition being termed a syndrome. One explanation for the clustering of features involves the idea of the "developmental field defect", in which malformations that occur in blastogenesis tend to result in polytopic anomalies, or birth defects affecting multiple organ systems. Some authors have suggested that VACTERL association would be more accurately described as a "primary polytopic developmental field defect" (as this reflects the causative developmental perturbation) rather than an association (as this simply describes the presence of statistical clustering) [3,4].Shortly after the initial description, it was proposed that the diagnostic criteria should also include Vascular anomalies (as part of the "V" in VACTERL), including single umbilical artery, or SUA, as part of the definition. Cardiac malformations ("C") and additional Limb ("L") anomalies other than strict radial anomalies were added as well [5,6]. Later, statistical analyses of cohorts of affected patients suggested that there was overall less evidence for the inclusion of certain features, such as cardiac or renal anomalies [7-9]. There is still no firm consensus regarding strict diagnostic criteria, though most clinicians and researchers require the presence of at least three component features for diagnosis (although it may be a semantic point, some would argue that the condition i
Percutaneous epididymal sperm aspiration (PESA) in men with obstructive azoospermia
Glina, Sidney;Fragoso, Jorge B.;Martins, Fernando G.;Soares, Jonathas B.;Galuppo, Andrea G.;Wonchockier, Roberta;
International braz j urol , 2003, DOI: 10.1590/S1677-55382003000200008
Abstract: objectives: assessing the efficiency of repeated percutaneous epididymal sperm aspiration (pesa) in men with obstructive azoospermia, and also the possibility of cryopreservation of remaining material for future use in intracytoplasmic sperm injection (icsi). method: retrospective study, in which 79 procedures of pesa were assessed in 58 patients (mean age = 45 years), whose partners had mean age of 34 years. vasectomy was the most frequent cause of obstructive azoospermia (n = 46). results: motile spermatozoa were obtained in 65 procedures (82%). pesa was twice repeated for 15 patients, 3 times for 5 patients, and 4 times for 1 patient. spermatozoa were found in 13 (87%) patients in the second attempt, in 4 (80%) patients in the third attempt, and in the only patient that had accomplished 4 procedures. in 30 procedures (37%), we have obtained enough material for cryopreservation. in 12 among the 13 samples thawed (n = 13 patients), motile spermatozoa were found, and icsi was accomplished. four patients that did not use their samples requested the elimination of the material. total rate of pregnancy per transference was 21/55 (38%). in 14 pesa procedures, it was not possible to find spermatozoa; in these cases, the patients opted for accomplishing the procedure of testicular sperm aspiration (tesa). conclusion: pesa is an efficient and simple method of retrieving spermatozoa, allowing repeated procedures. additionally, spermatozoa collected through pesa can be cryopreserved.
Percutaneous epididymal sperm aspiration (PESA) in men with obstructive azoospermia  [cached]
Glina Sidney,Fragoso Jorge B.,Martins Fernando G.,Soares Jonathas B.
International braz j urol , 2003,
Abstract: OBJECTIVES: Assessing the efficiency of repeated percutaneous epididymal sperm aspiration (PESA) in men with obstructive azoospermia, and also the possibility of cryopreservation of remaining material for future use in intracytoplasmic sperm injection (ICSI). METHOD: Retrospective study, in which 79 procedures of PESA were assessed in 58 patients (mean age = 45 years), whose partners had mean age of 34 years. Vasectomy was the most frequent cause of obstructive azoospermia (n = 46). RESULTS: Motile spermatozoa were obtained in 65 procedures (82%). PESA was twice repeated for 15 patients, 3 times for 5 patients, and 4 times for 1 patient. Spermatozoa were found in 13 (87%) patients in the second attempt, in 4 (80%) patients in the third attempt, and in the only patient that had accomplished 4 procedures. In 30 procedures (37%), we have obtained enough material for cryopreservation. In 12 among the 13 samples thawed (n = 13 patients), motile spermatozoa were found, and ICSI was accomplished. Four patients that did not use their samples requested the elimination of the material. Total rate of pregnancy per transference was 21/55 (38%). In 14 PESA procedures, it was not possible to find spermatozoa; in these cases, the patients opted for accomplishing the procedure of testicular sperm aspiration (TESA). CONCLUSION: PESA is an efficient and simple method of retrieving spermatozoa, allowing repeated procedures. Additionally, spermatozoa collected through PESA can be cryopreserved.
Somatostatinoma of the Vater's papilla in a patient with von Recklinghausen's disease  [PDF]
?olovi? Radoje,Micev Marjan,Grubor Nikica,Radak Vladimir
Vojnosanitetski Pregled , 2007, DOI: 10.2298/vsp0703219c
Abstract: Background. Somatostatinomas of the gastrointestinal tract secret hormone somatostatin which can cause "inhibitory syndrome" comprising diabetes mellitus, cholelithiasis and steatorrheic diarrhea. It is also secreted by the D cells of Langerhans's islands of the pancreas as well as endocrine cells of the stomack, small bowel, salivary glands and parafollicular cells of the thiroid gland. Somatostatinomas of the digestive tract appear within the pancreas and duodenum. Patients suffering from von Recklinghausens's disease are paticularly prone to the somatostatinomas of the duodenum. Case report. In this paper we presented a 51-year old female patient with von Recklinghausen's disease in whom, during the investigation for obstructive jaundice, tumor of the Vater's papilla was found. The patient was submitted to Whipple's duodenopancreatectomy. Histology and immunohistochemistry discovered type B glandular carcinoid tumor with strong antisomatostatin and mild antigastrin immunoreactivity. The patient stayed symptom-free more than four years now. Conclusion. Patients with von Recklinghausen's disease should be examined for other tumors, particularly carcinoids of the duodenum and papilla, especially if the signs of cholestasis are present.
Obstructive azoospermia as an unusual complication associated with herniorrhaphy of an omphalocele: a case report
Kazunari Tsuchihashi, Kazutoshi Okubo, Kentaro Ichioka, Takeshi Soda, Koji Yoshimura, Akihiro Kanematsu, Osamu Ogawa, Hiroyuki Nishiyama
Journal of Medical Case Reports , 2011, DOI: 10.1186/1752-1947-5-234
Abstract: A 30-year-old Japanese man was diagnosed with obstructive azoospermia. He had undergone herniorrhaphy of an omphalocele immediately after birth. Reconstruction surgery of both seminal tracts was performed to pursue the possibility of naturally achieved pregnancy. Intra-operative findings demonstrated that both vasa deferentia were interrupted at the internal inguinal rings, although the abdominal end of the right vas leading to the seminal vesicle was found in the abdominal cavity. The discharge from the stump of the testicular end had no sperm, although the right epididymal tubules were dilated with motile sperm. Therefore, we performed right-sided vasovasostomy in the internal inguinal ring and ipsilateral epididymovasostomy simultaneously.To the best of our knowledge, this is the first report describing obstructive azoospermia as an unusual complication of herniorrhaphy of an omphalocele. It is important to pay attention to the existence of seminal tracts in such surgery as well as in inguinal herniorrhaphy.Obstructive azoospermia is one cause of male infertility. Obstruction of the seminal tracts can be caused by iatrogenic damage, by a congenital anomaly or by infectious diseases [1]. Although the most common iatrogenic cause is bilateral repair of an inguinal hernia, here we present a case of obstructive azoospermia caused by herniorrhaphy of an omphalocele immediately after birth. As far as we are aware, this is the first such report.A 30-year-old Japanese man who had undergone herniorrhaphy for an omphalocele immediately after birth was referred to our hospital. He presented to our hospital with 1 year of infertility after his marriage. Multiple semen analyses revealed azoospermia, but a scrotal examination revealed no abnormalities in the testes or in the vas deferens or epididymis on both sides. Magnetic resonance imaging of the scrotum revealed no abnormal findings in the seminal vesicles, the prostate or the ejaculatory ducts. An endocrinological examina
Deletion and Testicular Expression of DAZ (Deleted in Azoospermia) Gene in Patients with Non-Obstructive Azoospermia
M Aarabi,K Saliminejad,MR Sadeghi,H Soltanghoraee
Iranian Journal of Public Health , 2009,
Abstract: "nBackground: Deletions of the DAZ (deleted in azoospermia) genes within the human Y chromosome's AZFc region are the most common cause of spermatogenesis failure. These deletions are usually assessed by analyses of genomic DNA ex-tracted from peripheral leukocytes. DAZ genes are expressed in male germ cells. In this prospective study, we investigated DAZ expression and deletion in 102 consecutive infertile men presenting with non-obstructive azoospermia in Avesina Re-search Institute, Tehran, Iran during 2005-6."nMethods: In this prospective study, we extracted genomic DNA from peripheral blood leukocytes for detection of DAZ dele-tions and testicular biopsies for histopathological assessment and analyses of DAZ expression level by reverse transcrip-tion polymerase chain reaction. DAZ levels were normalized to expression of the housekeeping Phosphoglu-comu-tase 1 gene."nResults: In four out of 102 patients (3.9%), we found DAZ deletion. DAZ expression was observed in 60 (61.2%) of 98 other patients. Expression was not detected in patients with Sertoli cell-only syndrome, but observed in 37 of 40 (92.5%) pa-tients with maturation arrest and 20 of 26 (76.9%) with hypospermatogenesis."nConclusion: The absence of DAZ expression could result in quantitative reduction of germ cells and might be observed de-spite of normal genomic DNA constitution. We recommend to check DAZ testicular expression and genomic DNA deletion, in non-obstructive azoospermia. This is more recommended to avoid transmission of genetic abnormalities which might lead to infertility in male offspring, when assisted reproductive techniques (ART) are performed.
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