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Clinical, Hormonal, and Genetic Evaluation of Idiopathic Nonobstructive Azoospermia and Klinefelter Syndrome Patients.
Cytogenet Genome Res. 2017; 153(4):190-197.CG

Abstract

To investigate the clinical, hormonal, and genetic factors in infertile men with idiopathic nonobstructive azoospermia (NOA) or azoospermic Klinefelter syndrome (KFS), a total of 556 and 96 patients, respectively, were included in this study. All patient samples were analyzed cytogenetically. Serum reproductive hormone levels were measured. Microdeletions in the azoospermia factor (AZF) region of the Y chromosome were detected by multiplex PCR using 16 specific sequence-tagged sites. FSH and LH levels in both NOA and KFS patients were significantly higher than the normal range, and the testosterone level in KFS patients was significantly lower. Ninety-two (95.8%) of the KFS patients showed non-mosaic 47,XXY karyotypes and 47,XXY,inv(9)(p11.1q13); the other KFS patients had mosaic karyotypes of 47,XXY/46,XY, 47,XXY/46,XX, and 47,XXY/48,XXXY/46,XX. Among the 556 idiopathic NOA patients with normal karyotypes, 67 (12.05%) had microdeletions in the AZF region of the Y chromosome. Microdeletions were most frequently detected in the AZFc region, followed by AZFa, AZFb, AZFbc, and partial AZFc deletions. However, Y chromosome microdeletions were not found in any of the azoospermic KFS patients. In view of the hormonal and genetic abnormalities in infertile men with idiopathic NOA and with azoospermic KFS, genetic testing for karyotype, Y chromosome microdeletions, and hormonal parameters is advocated.

Authors+Show Affiliations

Laboratory of Medical Genetics, Medical Research Institute, Dankook University College of Medicine, Seoul, Korea.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

29466784

Citation

Kim, Shin Y., et al. "Clinical, Hormonal, and Genetic Evaluation of Idiopathic Nonobstructive Azoospermia and Klinefelter Syndrome Patients." Cytogenetic and Genome Research, vol. 153, no. 4, 2017, pp. 190-197.
Kim SY, Lee BY, Oh AR, et al. Clinical, Hormonal, and Genetic Evaluation of Idiopathic Nonobstructive Azoospermia and Klinefelter Syndrome Patients. Cytogenet Genome Res. 2017;153(4):190-197.
Kim, S. Y., Lee, B. Y., Oh, A. R., Park, S. Y., Lee, H. S., & Seo, J. T. (2017). Clinical, Hormonal, and Genetic Evaluation of Idiopathic Nonobstructive Azoospermia and Klinefelter Syndrome Patients. Cytogenetic and Genome Research, 153(4), 190-197. https://doi.org/10.1159/000487039
Kim SY, et al. Clinical, Hormonal, and Genetic Evaluation of Idiopathic Nonobstructive Azoospermia and Klinefelter Syndrome Patients. Cytogenet Genome Res. 2017;153(4):190-197. PubMed PMID: 29466784.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical, Hormonal, and Genetic Evaluation of Idiopathic Nonobstructive Azoospermia and Klinefelter Syndrome Patients. AU - Kim,Shin Y, AU - Lee,Bom Y, AU - Oh,Ah R, AU - Park,So Y, AU - Lee,Hyo S, AU - Seo,Ju T, Y1 - 2018/02/22/ PY - 2017/11/09/accepted PY - 2018/2/22/pubmed PY - 2018/4/6/medline PY - 2018/2/22/entrez KW - Idiopathic nonobstructive azoospermia KW - Karyotype KW - Klinefelter syndrome KW - Reproductive hormones KW - Y chromosome microdeletions SP - 190 EP - 197 JF - Cytogenetic and genome research JO - Cytogenet. Genome Res. VL - 153 IS - 4 N2 - To investigate the clinical, hormonal, and genetic factors in infertile men with idiopathic nonobstructive azoospermia (NOA) or azoospermic Klinefelter syndrome (KFS), a total of 556 and 96 patients, respectively, were included in this study. All patient samples were analyzed cytogenetically. Serum reproductive hormone levels were measured. Microdeletions in the azoospermia factor (AZF) region of the Y chromosome were detected by multiplex PCR using 16 specific sequence-tagged sites. FSH and LH levels in both NOA and KFS patients were significantly higher than the normal range, and the testosterone level in KFS patients was significantly lower. Ninety-two (95.8%) of the KFS patients showed non-mosaic 47,XXY karyotypes and 47,XXY,inv(9)(p11.1q13); the other KFS patients had mosaic karyotypes of 47,XXY/46,XY, 47,XXY/46,XX, and 47,XXY/48,XXXY/46,XX. Among the 556 idiopathic NOA patients with normal karyotypes, 67 (12.05%) had microdeletions in the AZF region of the Y chromosome. Microdeletions were most frequently detected in the AZFc region, followed by AZFa, AZFb, AZFbc, and partial AZFc deletions. However, Y chromosome microdeletions were not found in any of the azoospermic KFS patients. In view of the hormonal and genetic abnormalities in infertile men with idiopathic NOA and with azoospermic KFS, genetic testing for karyotype, Y chromosome microdeletions, and hormonal parameters is advocated. SN - 1424-859X UR - https://www.unboundmedicine.com/medline/citation/29466784/Clinical_Hormonal_and_Genetic_Evaluation_of_Idiopathic_Nonobstructive_Azoospermia_and_Klinefelter_Syndrome_Patients_ L2 - https://www.karger.com?DOI=10.1159/000487039 DB - PRIME DP - Unbound Medicine ER -