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Novel methylation specific real-time PCR test for the diagnosis of Klinefelter syndrome

Asian Journal of Andrology 2014年第5期16卷 684-688,I0006页

作者： Akanksha Mehta Anna Mielnik Peter N Schlegel darius a paduch Department of Urology Weill Cornell Medical College New York NY USA Department of Urology Emory University School of Medicine Atlanta GA USA

The aim of this study was to design a molecular assay for the diagnosis of Klinefelter syndrome （KS）, based on the detection of supernumerary X-chromosomes （X-chs）. DNA was extracted from peripheral blood samples of twenty-six 47,XXY males; two 46,XY/47,XXY males; twenty-two 46,XY males; and 15 females; and deaminated. Methylation-specific quantitative polymerase chain reaction （MS-qPCR） was performed using primers for unmethylated and methylated copies of the X-ch inactive-specific transcript （XIST-U and XIST-M） gene. X-ch disomy was determined on the basis of XIST methylation status. Degree of mosaicism in the 46,XY/47,XXY males was compared with karyotype and fluorescent in situ hybridization （FISH） results. Data analysis was performed using the Roche LightCycler software V. 3.5.3, including determination of crossing points （CPs） by fit-point analysis and melting curve analysis. Xoch disomy was detected in all female controls and KS patients; male controls expressed XIST-M only. CPs ranged from 29.5 to 32.5 （standard deviation （s.d.） 0.8） for XIST-U and from 29 to 31 （s.d. 0.6） for XIST-M. Limit of detection of mosaicism was 1%. Based on XlST-U/XIST-M ratios for the two 47,XXY/46,XY patients, the calculated degree of mosaicism （1.8% and 17.8%） was comparable to FISH results （2.3% and 15%, respectively）. Turnaround time from DNA deamination to final data analysis was under 9 h. We conclude that MS-qPCR is a sensitive, specific and rapid test for the detection of X-ch disomy, with applicability for the screening and diagnosis of KS, even in the setting of low grade 47,XXY/46,XY mosaicism.

关键词： DNA methylation Klinefelter syndrome mosaicism polymerase chain reaction

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Deletion or underexpression of the Y-chromosome genes CDY2 and HSFY is associated with maturation arrest in American men with nonobstructive azoospermia

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Asian Journal of Andrology 2012年第5期14卷 676-682页

作者： Peter J Stahl Anna N Mielnik Christopher E Barbieri Peter N Schlegel darius a paduch Department of Urology Weill Cornell Medical CollegeNew York Presbyterian HospitaI-CornellNew YorkNY 10065USA

Maturation arrest （MA） refers to failure of germ cell development leading to clinical nonobstructive azoospermia. Although the azoospermic factor （AZF） region of the human Y chromosome is clearly implicated in some cases, thus far very little is known about which individual Y-chromosome genes are important for complete male germ cell development. We sought to identify single genes on the Y chromosome that may be implicated in the pathogenesis of nonobstructive azoospermia associated with MA in the American population. Genotype-phenotype analysis of 132 men with Y-chromosome microdeletions was performed. Protein-coding genes associated with MA were identified by visual analysis of a genotype-phenotype map. Genes associated with MA were selected as those genes within a segment of the Y chromosome that, when completely or partially deleted, were always associated with MA and absence of retrievable testicular sperm. Expression of each identified gene transcript was then measured with quantitative RT-PCR in testicular tissue from separate cohorts of patients with idiopathic MA and obstructive azoospermia. Ten candidate genes for association with MA were identified within an 8.4-Mb segment of the Y chromosome overlapping the AZFb region. CDY2and HSFYwere the only identified genes for which differences in expression were observed between the MA and obstructive azoospermia cohorts. Men with obstructive azoospermia had 12-fold higher relative expression of CDY2transcript （1.33__.0.40 vs. 0.11＋_0.04; P=O.O003） and 16-fold higher expression of HSFYtranscript （0.78__.0.32 vs. 0.05_0.02; P=O.O005） compared to men with MA. CDY2 and HSFYwere also underexpressed in patients with Sertoli cell only syndrome. These data indicate that CDY2and HSFYare located within a segment of the Y chromosome that is important for sperm maturation, and are underexpressed in testicular tissue derived from men with MA. These observations suggest that impairments in CDY2 or HSFYexpression could be impli

关键词： CDY1 protein CDY2 protein genetics histology HSFY human make infertility nonobstructive azoospermia spermato-genesis sperm maturation

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Bulbocavernosus muscle area measurement： a novel method to assess androgenic activity

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Asian Journal of Andrology 2014年第4期16卷 618-622页

作者： Ali A Dabaja Matthew S Wosnitzer Anna Mielnik Alexander Bolyakov Peter N Schlegel darius a paduch Department of Urology and Reproductive Medicine Weill Cornell Medical College New York USA.

Serum testosterone does not correlate with androgen tissue activity, and it is critical to optimize tools to evaluate such activity in males. Ultrasound measurement of bulbocavernosus muscle （BCM） was used to assess the relationship between the number of CAG repeats （CAGn） in the androgen receptor （AR） and the BCM size; the changes in the number of CAGn over age were also evaluated. Transperineal ultrasound measurement of the BCM was also performed. AR CAGn were determined by high performance liquid chromatography, and morning hormone levels were determined using immunoassays. Forty-eight men had CAG repeat analysis. Twenty-five were 〈30 years of age, mean 23.7 years （s.d, = 3.24） and 23 were 〉45 years of age, mean 53years （s.d. = 5.58）. The median CAGn was 21 （13-29）. BCM area was greater when the number of CAGn were 〈18 as compared to the number of CAGn 〉24 （P= 0.04）. There was a linear correlation between the number of CAGn and the BCM area R^2= 16% （P= 0.01）. In the 45 to 65-years-old group, a much stronger negative correlation （R^2 = 29%, P= 0.01） was noticed. In the 19 to 29-years-old group, no such correlation was found （R2 = 4%, P = 0.36）. In older men, the number of CAGn increased with age （R^2 = 32%, P= 0.01）. The number of CAGn in the AR correlates with the area of the BCM. Ultrasound assessment of the BCM is an effective surrogate to evaluate end-organ activity of androgens. The number of CAGn may increase with age.

关键词： age androgen activity androgen receptor androgen sensitivity bulbocavernosus muscle CAG repeats

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Low Testosterone—An Important Predictor of Low Mineral Bone Density in Young Men—Our Own Experience and a Review of Literature

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Advances in Sexual Medicine 2013年第3期3卷 19-33页

作者： Michael Funaro Alexander Bolyakov Elena Gimenez Michael Herman darius A. paduch Department of Urology and Reproductive Medicine Weill Cornell Medical College New York USA

Urologists and reproductive endocrinologists have become the first contact physicians for young men of reproductive age and have the unique opportunity to positively affect men’s health and quality of life. Growing evidence indicates that a significant proportion of men presenting with infertility or sexual dysfunction are hypogonadal. One hundred ninety nine men were enrolled in our center, and mean total testosterone was = 122, 57%), osteopenia (n = 69, 39%) and osteoporosis (n = 8, 4%). There were no differences in the mean age (p 0.64), height (p 0.99) and weight (p 0.02). Our results indicate that hypogonadism is one of the main risk factors for osteopenia and osteoporosis which can be found in 8% of hypogonadal men younger than 50 years of age. Testosterone replacement therapy may be indicated in most men with hypogonadism and low bone mineral density (BMD);however the benefits of testosterone treatment in eugonadal men are unproven. Selective estradiol and androgen receptor modulators expand our treatment modalities in men of reproductive age when suppression of gonadotropins may interfere with reproductive plans. Early detection of hypogonadism and osteoporosis may lower the risk of hip and vertebral fractures in some men. Further prospective RCTs are needed to prove cost-effectiveness of detection and the best treatment of osteoporosis in hypogonadal men of reproductive age. Urologists have the opportunity to be at the forefront of greater awareness of this clinical problem due to their frequent contact with this population of patients.

关键词： Osteopenia Osteoporosis Hypogonadism Infertility Sexual Dysfunction

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Testosterone Levels Do Not Decline with Age in Healthy Men

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Open Journal of Urology 2013年第4期3卷 173-178页

作者： Akanksha Mehta Alexander Bolyakov Raymond C. Sultan Laurent Vaucher Anna Mielnik Joseph Kiper darius A. paduch Department of Urology Centre Hospitalier Universitaire Vaudois Lausanne Switzerland Department of Urology Weill Cornell Medical College New York USA

Aim: To establish norms for reproductive hormones in healthy males with normal urologic and sexual function, and to assess the change in reproductive hormone levels with respect to age among healthy males. Methods: Healthy volunteers aged 18 - 29 (group 1) and 45 - 65 (group 2) were recruited for enrollment in a prospective study. Inclusion criteria comprised normal urinary, ejaculatory, orgasmic, and erectile function, as determined by IPSS, MSHQ, and IEFF-15. Men with history of chronic medical illnesses or chronic medication use were excluded. Fifty men met the study criteria. Each participant underwent physical examination and standardized serum hormone evaluation using ELISA and EIA methods. Statistical analysis was performed using JMP 8.0 software (SAS Institute Inc., Cary, NC), to compare hormone levels between the two groups of men. Results: There were 25 men each in groups 1 (mean age 26) and 2 (mean age 51). Overall, 46% were Caucasian, 31% African American, 15% Hispanic, and 8% Asian. There was no statistically significant difference in serum total T, SHBG, E2, or LH between groups 1 and 2. Notably, the 95% CI for serum T levels for both groups of men were considerably higher than commonly accepted lower-end cut-off limits. Conclusion: Serum T levels do not vary significantly with age, in otherwise healthy men with normal sexual and urologic function. Furthermore, healthy men have much higher serum total and free T levels than the lower-end reference limits provided by commercial laboratories.

关键词： Testosterone Aging Hypogonadism Reference Values

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