Abstract:
:The dicentric Y chromosome is the most common cytogenetically visible structural abnormality of Y chromosome. The sites of break and fusion of dicentric Y are variable, but break and fusion at Yq12 (proximal to the pseudoautosomal region 2/PAR 2) is very rare. Dicentric Y chromosome is unstable during cell division and likely to generate chromosomal mosaicism. Here, we report a case of infertile male with nonmosaic 46,XY where chromosome Y was dicentric with break and fusion at Yq12 (proximal to PAR 2). Clinical presentation of the case was nonobstructive azoospermia due to early maturation arrest at the primary spermatocyte stage. Various molecular techniques such as FISH, STS-PCR and DNA microarray were carried out to characterise genetic defect leading to testicular maturation arrest in the patient. The break and fusion was found at Yq12 (proximal to PAR 2) and resulted in near total duplication of Y chromosome (excluding PAR 2). The reason for maturation arrest seems due to CNVs of PARs (gain in PAR 1 and loss of PAR 2) and azoospermia factors (gain).
journal_name
Andrologiajournal_title
Andrologiaauthors
Kumar P,Jain M,Kalsi AK,Halder Adoi
10.1111/and.12886subject
Has Abstractpub_date
2018-03-01 00:00:00issue
2eissn
0303-4569issn
1439-0272journal_volume
50pub_type
杂志文章相关文献
ANDROLOGIA文献大全abstract::Sperm investigations of 35 epileptics being treated with hydantoin for a period of more than three years have shown that by a large dispersion of evaluations only 52% of the sperm cells were intact (teratozoospermia; compared with a normal limit of 60% p = 5%, of 70% p = 1%). The mobility of the sperm cells was 49% (a...
journal_title:Andrologia
pub_type: 杂志文章
doi:
更新日期:1980-01-01 00:00:00
abstract::The effect of chronic chloroquine administration on prostaglandin E1 (PGE1) and human chorionic gonadotropin (hCG) stimulation of testosterone secretion by the rat Leydig cells was studied. Adult albino (Wistar strain) rats were injected with 4 mg/kg body weight of chloroquine phosphate every other day for 30 days. At...
journal_title:Andrologia
pub_type: 杂志文章
doi:10.1111/j.1439-0272.1987.tb01900.x
更新日期:1987-09-01 00:00:00
abstract::Pfaffia glomerata (Spreng.) Pedersen, popularly known as "Brazilian ginseng," is used as medicinal plant in Brazil to treat inflammatory diseases in general. Previous studies showed that its extract increases the nitric oxide (NO) levels. Knowing that NO downregulates steroidogenesis and that alterations in the action...
journal_title:Andrologia
pub_type: 杂志文章
doi:10.1111/and.13328
更新日期:2019-09-01 00:00:00
abstract::Insulin-like factor 3 (INSL3) has an important role in the human reproductive system; however, its detailed function is still mysterious. We aimed to investigate the possibility of expression of RXFP2 receptor on human spermatozoa and to determine the anti-apoptotic and antioxidant mechanism derived the binding of INS...
journal_title:Andrologia
pub_type: 杂志文章
doi:10.1111/and.13715
更新日期:2020-10-01 00:00:00
abstract::The techniques of SDS-polyacrylamide slab gel electrophoresis and a sensitive fluorescamine-based method were used to study autoproteolysis of human seminal coagulum at various pH. The major protein bands of 72 and 55 Kd were optimally degraded at pH 7.5. Degradation at pH 3.5 was preceded by a lag period of 30 min. W...
journal_title:Andrologia
pub_type: 杂志文章
doi:10.1111/j.1439-0272.1986.tb01771.x
更新日期:1986-05-01 00:00:00
abstract::Previous studies have shown that alpha1-adrenergic receptor antagonists may alter seminal vesicle contractility and impair fertility in male rats. This study was designed to investigate the effects of terazosin on the catalase expression in the seminal vesicles and the lipid peroxidation of the seminal fluid in normal...
journal_title:Andrologia
pub_type: 杂志文章
doi:10.1111/j.1439-0272.2012.01324.x
更新日期:2013-04-01 00:00:00
abstract::The study described here was carried out to establish whether or not chloroquine was excreted in semen. Chloroquine was assayed in the semen of eight male volunteers (aged between 19 and 45 years) by a fluorimetric method before and after taking a total dose of 1.500 mg chloroquine base corresponding to the accepted d...
journal_title:Andrologia
pub_type: 杂志文章
doi:10.1111/j.1439-0272.1994.tb00782.x
更新日期:1994-05-01 00:00:00
abstract::Docetaxel (DTX) has been used in cancer treatments for several decades, but it results in many adverse apoptotic effects through excessive production of reactive oxygen species (ROS) in some tissue including the kidney and testes. We aimed to investigate potential modulatory roles of melatonin (MEL) and selenium (Se) ...
journal_title:Andrologia
pub_type: 杂志文章
doi:10.1111/and.13320
更新日期:2019-09-01 00:00:00
abstract::Anatomical endoscopic enucleation of the prostate (AEEP) differs from other surgical techniques for benign prostatic obstruction (BPO) in that it removes the entire benign prostatic hyperplasia (BPH) component of the prostate. We summarise the main advantages of AEEP compared to other surgical techniques for BPO. Thes...
journal_title:Andrologia
pub_type: 杂志文章,评审
doi:10.1111/and.13643
更新日期:2020-09-01 00:00:00
abstract::In this study, we aimed to compare changes in cavernosal tissues in rats with antiandrogen treatment and orchiectomy. A total of 42 Wistar albino rats were divided into four groups. Group I, control group, Group II, LH-RH was given for 1 month, Group III-LH-RH + Bicalutamide was given for 1 month, and Group IV was def...
journal_title:Andrologia
pub_type: 杂志文章
doi:10.1111/and.13567
更新日期:2020-06-01 00:00:00
abstract::The seminal plasma of 31 patients were examined for the presence of sperm antibodies and for inhibitory properties on the transformation rates of donor lymphocytes cultured in vitro. Twenty five (80%) of the men revealed apart from fertile semen, no sperm antibody activities while six (20%) patients showed high sperma...
journal_title:Andrologia
pub_type: 杂志文章
doi:10.1111/j.1439-0272.1982.tb03105.x
更新日期:1982-03-01 00:00:00
abstract::Statins are lipid-lowering medications widely used to reduce the risk of cardiovascular diseases. Biochemically, they act by decreasing synthesis of cholesterol via inhibiting 3-hydroxy-3-methyl-glutaryl-coenzyme A reductase. Since 1992, various research studies have investigated the effect of statins on semen quality...
journal_title:Andrologia
pub_type: 杂志文章,评审
doi:10.1111/and.13592
更新日期:2020-07-01 00:00:00
abstract::Previous research has suggested an association between personality traits and coping, as well as between coping and sperm concentration. In the present study, both domains of research were combined, leading to the formulation of specific hypotheses. A total of 54 healthy volunteers were given questionnaires twice to a...
journal_title:Andrologia
pub_type: 杂志文章
doi:10.1111/j.1439-0272.2004.00647.x
更新日期:2005-02-01 00:00:00
abstract::Testicular tissue and sex hormones are sensitive to the anabolic steroids (oxymetholone/OM) due to increased free radical damage and hormonal changes. The Nasturtium officinale L. have various antioxidant compounds. The aim of the present study was to investigate N. officinale effect on OM-induced oxidative injury in ...
journal_title:Andrologia
pub_type: 杂志文章
doi:10.1111/and.13294
更新日期:2019-08-01 00:00:00
abstract::Testicular torsion/detorsion induces oxidative/nitrosative stress, inflammation and apoptosis of testicular tissues. Baicalin exerts antioxidant and anti-inflammatory properties. This study investigated the possible protective effect of baicalin against testicular torsion-detorsion injury in rats. Surgical testicular ...
journal_title:Andrologia
pub_type: 杂志文章
doi:10.1111/and.12580
更新日期:2017-02-01 00:00:00
abstract::The events occurring at the maternal-foetal interface define a successful pregnancy but the current paradigm has shifted towards assessing the contribution of spermatozoa for embryogenesis. Spermatozoa with defective DNA integrity may fertilise the oocyte but affect subsequent embryonic development. The present case-c...
journal_title:Andrologia
pub_type: 杂志文章
doi:10.1111/and.13171
更新日期:2019-02-01 00:00:00
abstract::According to numerous assisted reproductive medicine practitioners, semen with normal characteristics might not require further investigation. However, on the scale of the individual spermatozoon, it is well known that normal morphology does not guarantee optimal nuclear quality. Here, for 20 patients with normal sper...
journal_title:Andrologia
pub_type: 杂志文章
doi:10.1111/and.12341
更新日期:2015-10-01 00:00:00
abstract::The RNA has been located and proportioned by a spectrophotometric method which absorbs the ultra-violet light. The technique used allows us to execute punctual dosage into the spermatozoon's tail. Each of these punctual dosages makes us realise the RNA localisation; and the sum of these dosages makes us realise the to...
journal_title:Andrologia
pub_type: 杂志文章
doi:
更新日期:1975-01-01 00:00:00
abstract::Leydig cells and seminiferous tubules of human testicular tissue were successfully separated by means of an anti-substance P-antiserum. On incubation with (14C)-testosterone or (14C)-dihydrotestosterone (DHT) it could be shown that besides DHT and 5 alpha-androstane-3 alpha, 17 beta-diol (3 alpha-diol) also 5 alpha-an...
journal_title:Andrologia
pub_type: 杂志文章
doi:
更新日期:1990-01-01 00:00:00
abstract::This study scrutinised the ameliorative properties of grape seed extract (GSE) in dexamethasone (DEX)-induced testicular and thyroid dysfunction associated with oxidative stress in male albino rats. Thirty-two healthy adult male albino rats were divided into four groups of eight animals each: normal, DEX control, DEX ...
journal_title:Andrologia
pub_type: 杂志文章
doi:10.1111/and.13002
更新日期:2018-06-01 00:00:00
abstract::Angiotensin converting enzyme (EC 3.4.15.1) from bovine seminal plasma was shown to exist in two distinct forms. A lower molecular weight form of the enzyme having higher activity was purified to homogeneity. Final recovery of the enzyme was 18.37%. The apparent molecular weight of the enzyme was estimated to be 1.99 ...
journal_title:Andrologia
pub_type: 杂志文章
doi:10.1111/j.1439-0272.1991.tb02569.x
更新日期:1991-07-01 00:00:00
abstract::We aimed to study the correlation between leukocyte counts in semen and bacterial pathogens in seminal samples of infertile men, and to establish the minimum leukocyte count associated with significant bacteriospermia. A total of 116 patients who underwent evaluation of fertility were investigated using routine semen ...
journal_title:Andrologia
pub_type: 杂志文章
doi:10.1111/j.1439-0272.2008.00845.x
更新日期:2008-08-01 00:00:00
abstract::The protein kinase in the human seminal plasma, as assayed by its ability to catalyze the transfer of phosphate from [gama-32P]ATP to the protamine, was found to linearly increase with dilution of the seminal plasma. Extrapolation of the enzyme activity to the undiluted seminal plasma indicated that te protein kinase ...
journal_title:Andrologia
pub_type: 杂志文章
doi:10.1111/j.1439-0272.1981.tb00055.x
更新日期:1981-07-01 00:00:00
abstract::The aim of the study was to characterise the alterations in expression of some apoptosis regulators in unilaterally and bilaterally heat-treated mouse testes at different time intervals to 42 days after surgery. Cryptorchidism was induced in immature mice by returning the testis to the abdominal cavity via a surgical ...
journal_title:Andrologia
pub_type: 杂志文章
doi:10.1111/j.1439-0272.2009.00947.x
更新日期:2010-02-01 00:00:00
abstract::In this study we investigated the relationship between personality attitudes, psychopathological symptoms and biological parameters in male infertility. Eighty-four infertile men underwent a psychological and medical examination at our clinic. The psychological tests comprised the Symptom Checklist 90-R, the Toronto A...
journal_title:Andrologia
pub_type: 杂志文章
doi:
更新日期:2002-10-01 00:00:00
abstract::To explore the aetiology of obstructive azoospermia (OA) in Chinese infertility patients, 133 OA patients was included in this study diagnosed and evaluated by one major specialist trained urological infertility. We retrospected the medical records to collect relative information. All of the patients had been underwen...
journal_title:Andrologia
pub_type: 杂志文章
doi:10.1111/and.12509
更新日期:2016-09-01 00:00:00
abstract::The incretory testicular function was tested in 21 patient with varicocele aged 19 to 39 years. In one group baseline testosterone was measured, while a second group received a single injection of 5000 IU HCG. Testosterone was studied in peripheral plasma in the spermatic vein and in testicular tissue. Baseline values...
journal_title:Andrologia
pub_type: 杂志文章
doi:10.1111/j.1439-0272.1983.tb00179.x
更新日期:1983-11-01 00:00:00
abstract::In 136 patients tests were performed to demonstrate circulating spermagglutinating antibodies. In patients with "unexplained" infertility (15 cases) antibodies were demonstrated in six (40%) whereas in patients where another cause for infertility was present (101 cases) additional positive spermagglutinating antibodie...
journal_title:Andrologia
pub_type: 杂志文章
doi:10.1111/j.1439-0272.1980.tb00570.x
更新日期:1980-01-01 00:00:00
abstract::The numbers of Sertoli and pre-meiotic germ cells in the developing rabbit testis were investigated as an initial step in determining the physiological meaning of the control of cell number in the testis by apoptosis. Sections were stained immunohistochemically for the detection of apoptotic cells and counterstained w...
journal_title:Andrologia
pub_type: 杂志文章
doi:10.1046/j.1439-0272.2002.00464.x
更新日期:2002-02-01 00:00:00
abstract::In order to investigate the role of testosterone propionate (TP) on the antioxidant system of the rat testis, lipid peroxidation (LPX) and activities of superoxide dismutase (SOD), catalase (CAT) and glutathione peroxidase (GPx) of the testis of testosterone-treated and control rats were compared. The results indicate...
journal_title:Andrologia
pub_type: 杂志文章
doi:10.1111/j.1439-0272.1997.tb00328.x
更新日期:1997-11-01 00:00:00