RESUMEN
PURPOSE: The purpose of this study was to determine the association of AZFc subdeletions (gr/gr, b1/b3 and b2/b3) and deletion of DAZ and CDY1 gene copies with male infertility METHODS: Three hundred twelve controls, 172 azoospermic and 343 oligozoospermic subjects were subjected to AZFc subdeletion typing by STS PCR. Deletion of DAZ and CDY1 gene copies was done using sequence family variant analysis. Sperm concentration and motility were compared between men with and without AZFc subdeletions. Effect of the AZFc subdeletions on ICSI outcome was evaluated. RESULTS: Amongst the three AZFc subdeletions, the frequency of gr/gr was higher in oligozoospermic (10.5 %) and azoospermic (11.6 %) men as compared to controls (5.1 %). In men with AZFc subdeltions, loss of two DAZ and one CDY1 gene copy made them highly susceptible to azoospermia and severe oligozoospermia with OR of 29.7 and 26, respectively. These subdeletions had no effect on ICSI outcome, albeit there were an increased number of poor quality embryos in AZFc subdeleted group. CONCLUSION: AZFc subdeletions are a major risk factor for male infertility in the Indian population. In the subjects with AZFc subdeletions, the deletion of DAZ and CDY1 gene copies increases its susceptibility to azoospermia or severe oligozoospermia. Since these deletions can be vertically transmitted to the future male offspring by ICSI, it will be essential to counsel the couples for the transmission of the genetic defect in the male offspring born after assisted reproduction and the risk of perpetuating infertility in future generation.
Asunto(s)
Azoospermia/genética , Deleción Cromosómica , Cromosomas Humanos Y/genética , Eliminación de Gen , Proteínas Nucleares/genética , Oligospermia/genética , Proteínas de Unión al ARN/genética , Adulto , Estudios de Casos y Controles , Proteína 1 Delecionada en la Azoospermia , Fertilización In Vitro/métodos , Estudios de Seguimiento , Reordenamiento Génico , Enfermedades Genéticas Ligadas al Cromosoma Y/genética , Sitios Genéticos , Humanos , Masculino , Pronóstico , Espermatogénesis/genéticaRESUMEN
The vanishing testis with maleness is a rare syndrome with frequency of 1 in 20,000 males. Here, we report about a 30 years old male subject with vanishing testis syndrome, feminization and gynecomastia. Follicle stimulating hormone (FSH) and Leutinizing hormone (LH) levels were elevated whereas testosterone was below normal and anti-mullerian-hormone level was undetectable in the patient. The chromosomal analysis and DNA analysis of SRY and ZFY, DAX-I, AZFa, AZFb, AZFc and heterochromatic region of Y chromosome with STS primer (sY160) were done to detect any genetic changes at specified sites (both at chromosomal and molecular level). Karyotyping confirmed patient as 46, XY male, with no evidence of mosaicism in blood cells. PCR amplification of SRY gene indicated that the SRY gene of the patient was normal. PCR amplification of SRY, ZFY, DAX-I, AZFa, AZFb, AZFc gene and Y chromosome heterochromatic region using STS primer sY(160) did not reveal any microdeletions. The anti-mullerian-hormone level was undetectable indicating that the patient didn't have any testicular tissue in scrotum. Increased levels of FSH, LH and reversed androgen: estrogen ratio might have given rise to gynecomastia in the patient. SRY-positive 46,XY male with vanishing testis might be due to torsion of testis during descent in fetal period. The torsion of testis might have caused vascular occlusion and thereby regression of testicular tissue occurred, but the exact genetic condition yet to understand.
Asunto(s)
Feminización/genética , Genes sry , Disgenesia Gonadal 46 XY/genética , Ginecomastia/genética , Adulto , Hormona Antimülleriana/sangre , Diagnóstico por Imagen , Feminización/diagnóstico , Hormona Folículo Estimulante/sangre , Disgenesia Gonadal 46 XY/diagnóstico , Ginecomastia/diagnóstico , Humanos , Cariotipificación , Hormona Luteinizante/sangre , Masculino , Reacción en Cadena de la Polimerasa , Síndrome , Testículo/anomalías , Testosterona/sangreRESUMEN
Ciprofloxacin is a bactericidal drug which is being used widely throughout the world for the treatment of various bacterial infection. Cytotoxicity and genotoxicity of Ciprofloxacin on human lymphocytes in vitro had been assessed taking various parameters like mitotic index (MI), chromosome aberration (CA), anaphase anomalies, replicative index (RI) and sister chromatid exchange (SCE) as end points. Our results indicate low mitotic index, low replicative index and high frequency of anaphase anomalies on one hand and on other hand, high frequency of chromosome aberration and sister chromatid exchanges (SCEs) in the exposed groups as compared to that of control group. These are the indications of both cytotoxicity and genotoxicity of Ciprofloxacin on human lymphocyte culture in vitro. All the parameters obtained from the experimental group were statistically significant when compared to that of control.