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Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome.
Asian J Androl. 2006 Jan; 8(1):81-8.AJ

Abstract

AIM

To study the occurrence of Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome (KFS).

METHODS

Blood and semen samples were collected from azoospermic patients with KFS (n = 14) and a control group of men of proven fertility (n = 13). Semen analysis was done according to World Health Organization (WHO) guidelines. Blood samples were processed for karyotyping, fluorescent in situ hybridization (FISH) and measurement of plasma follicle stimulating hormone (FSH) by radioimmunoassay. To determine Y chromosome microdeletions, polymerase chain reaction (PCR) of 16 sequence tagged sites (STS) and three genes (DFFRY, XKRY and RBM1Y) was performed on isolated genomic DNA. Testicular fine needle aspiration cytology (FNAC) was done in selected cases.

RESULTS

Y chromosome microdeletions spanning the azoospermia factor (AZF)a and AZFb loci were found in four of the 14 azoospermic patients with KFS. Karyotype and FISH analysis revealed that, of the four cases showing Y chromosome microdeletion, three cases had a 47,XXY/46,XY chromosomal pattern and one case had a 46,XY/47,XXY/48,XXXY/48,XXYY chromosomal pattern. The testicular FNAC of one sample with Y chromosome microdeletion revealed Sertoli cell-only type of morphology. However, no Y chromosome microdeletions were observed in any of the 13 fertile men. All patients with KFS had elevated plasma FSH levels.

CONCLUSION

Patients with KFS may harbor Y chromosome microdeletions and screening for these should be a part of their diagnostic work-up, particularly in those considering assisted reproductive techniques.

Authors+Show Affiliations

Gamete Antigen Laboratory, National Institute of Immunology, Aruna Asaf Ali Marg, New Delhi 110 067, India.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16372123

Citation

Mitra, Anurag, et al. "Y Chromosome Microdeletions in Azoospermic Patients With Klinefelter's Syndrome." Asian Journal of Andrology, vol. 8, no. 1, 2006, pp. 81-8.
Mitra A, Dada R, Kumar R, et al. Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome. Asian J Androl. 2006;8(1):81-8.
Mitra, A., Dada, R., Kumar, R., Gupta, N. P., Kucheria, K., & Gupta, S. K. (2006). Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome. Asian Journal of Andrology, 8(1), 81-8.
Mitra A, et al. Y Chromosome Microdeletions in Azoospermic Patients With Klinefelter's Syndrome. Asian J Androl. 2006;8(1):81-8. PubMed PMID: 16372123.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome. AU - Mitra,Anurag, AU - Dada,Rima, AU - Kumar,Rajeev, AU - Gupta,Narmada Prasad, AU - Kucheria,Kiran, AU - Gupta,Satish Kumar, PY - 2005/12/24/pubmed PY - 2006/2/14/medline PY - 2005/12/24/entrez SP - 81 EP - 8 JF - Asian journal of andrology JO - Asian J. Androl. VL - 8 IS - 1 N2 - AIM: To study the occurrence of Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome (KFS). METHODS: Blood and semen samples were collected from azoospermic patients with KFS (n = 14) and a control group of men of proven fertility (n = 13). Semen analysis was done according to World Health Organization (WHO) guidelines. Blood samples were processed for karyotyping, fluorescent in situ hybridization (FISH) and measurement of plasma follicle stimulating hormone (FSH) by radioimmunoassay. To determine Y chromosome microdeletions, polymerase chain reaction (PCR) of 16 sequence tagged sites (STS) and three genes (DFFRY, XKRY and RBM1Y) was performed on isolated genomic DNA. Testicular fine needle aspiration cytology (FNAC) was done in selected cases. RESULTS: Y chromosome microdeletions spanning the azoospermia factor (AZF)a and AZFb loci were found in four of the 14 azoospermic patients with KFS. Karyotype and FISH analysis revealed that, of the four cases showing Y chromosome microdeletion, three cases had a 47,XXY/46,XY chromosomal pattern and one case had a 46,XY/47,XXY/48,XXXY/48,XXYY chromosomal pattern. The testicular FNAC of one sample with Y chromosome microdeletion revealed Sertoli cell-only type of morphology. However, no Y chromosome microdeletions were observed in any of the 13 fertile men. All patients with KFS had elevated plasma FSH levels. CONCLUSION: Patients with KFS may harbor Y chromosome microdeletions and screening for these should be a part of their diagnostic work-up, particularly in those considering assisted reproductive techniques. SN - 1008-682X UR - https://www.unboundmedicine.com/medline/citation/16372123/Y_chromosome_microdeletions_in_azoospermic_patients_with_Klinefelter's_syndrome_ L2 - http://www.asiaandro.com/Abstract.asp?doi=10.1111/j.1745-7262.2006.00083.x DB - PRIME DP - Unbound Medicine ER -