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Asymptomatic postpubertal male with equally sized normal testicles with palpable left varicocele

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Asian Journal of Andrology 2016年第2期18卷 310-310页

作者： A Scott Polackwich Edmund Sabanegh Jr Male Infertility and Microsurgery Department of Urology Glickman Urological and Kidney Institute Cleveland Clinic Foundation 9500 Euclid Avenue QIOCleveland OH 44195 USA

Varicoceles are a common finding in the general public. The incidence appears to increase later in life with a contemporary study finding an increase in incidence of 10% per decade of life） While common in the general population, they are even more common among those presenting for a fertility evaluation, as high as 39% in some series and are often initially diagnosed during such examinations） Others present without symptoms or fertility issues and are found incidentally on a physical exam by a general practitioner.

关键词： MEN

46 XX karyotype during male fertility evaluation; case series and literature review

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Asian Journal of Andrology 2017年第2期19卷 168-172页

作者： Ahmad Majzoub Mohamed Arafa Christopher Starks Haitham Elbardisi Sami A1 Said Edmund Sabanegh Jr Cleveland Clinic Foundation Department of Urology Cleveland Ohio USA Hamad Medical Corporation Department of Urology Qatar Cairo University Department of Andrology Giza Egypt Reston Hospital Department of Urology Virginia USA

Forty-six XX disorder of sex development is an uncommon medical condition observed at times during the evaluation of a man＇s fertility. The following is a case series and literature review of phenotypically normal men diagnosed with this karyotype. Our goal is to comprehend the patients＇ clinical presentation as well as their laboratory results aiming to explore options available for their management. A formal literature review through PubMed and MEDLINE databases was performed using ＂46 XX man＂ as a word search. A total of 55 patients, including those conveyed in this article were diagnosed with a 46 XX karyotype during their fertility evaluation. The patients＇ mean age _＋ s.d. was 34 ＋ 10 years and their mean height ＋ s.d. was 166 ＋ 6.5 cm. Overall, they presented with hypergonadotropic hypogonadism. Sexual dysfunction, reduced hair distribution, and gynecomastia were reported in 20% （4120）, 25.8% （8/31）, and 42% （13131） of the patients, respectively. The SRYgene was detected in 36 （83.7%） and was absent in the remaining seven （16.3%） patients. We found that a multidisciplinary approach to management is preferred in 46 XX patients. Screening for remnants of the mullerian ducts and for malignant transformation in dysgenetic gonads is imperative. Hypogonadism should be addressed, while fertility options are in vitro fertilization with donor sperm or adoption.

关键词： hypogonadism infertility male sex-determining region XX disorders of sex development

Proteomic signatures of infertile men with clinical varicocele and their validation studies reveal mitochondrial dysfunction leading to infertility

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Asian Journal of Andrology 2016年第2期18卷 282-291,J0007页

作者： Ashok Agarwal Rakesh Sharma Luna Samanta Damayanthi Durairajanayagam edmund sabanegh American Center for Reproductive Medicine Cleveland Clinic Cleveland OH USA Department of Zoology School of Life Sciences Ravenshaw UniversityCuttack - 751 003 Odisha India Faculty of Medicine MARA University of Technology (UiTM) Selangor Darul Ehsan Malaysia Department of Urology Cleveland Clinic Cleveland OH USA.

To study the major differences in the distribution of spermatozoa proteins in infertile men with varicocele by comparative proteomics and validation of their level of expression. The study-specific estimates for each varicocele outcome were combined to identify the proteins involved in varicocele-associated infertility in men irrespective of stage and laterality of their clinical varicocele. Expression levels of 5 key proteins （PKARIA, AK7, CCT6B, HSPA2, and ODF2） involved in stress response and sperm function including molecular chaperones were validated by Western blotting. Ninety-nine proteins were differentially expressed in the varicocele Eroup. Over 87% of the DEP involved in major energy metabolism and key sperm functions were underexpressed in the varicocele group. Key protein functions affected in the varicocele group were spermatogenesis, sperm motility, and mitochondrial dysfunction, which were further validated by Western blotting, corroborating the proteomics analysis. Varicocele is essentially a state of energy deprivation, hypoxia, and hyperthermia due to impaired blood supply, which is corroborated by down-regulation of lipid metabolism, mitochondrial electron transport chain, and Krebs cycle enzymes. To corroborate the proteomic analysis, expression of the 5 identified proteins of interest was validated by Western blotting. This study contributes toward establishing a biomarker ＂fingerprint＂ to assess sperm quality on the basis of molecular parameters.

关键词： bioinformatics male infertility proteomics spermatozoa proteins varicocele

Spermatozoa protein alterations in infertile men with bilateral varicocele

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Asian Journal of Andrology 2016年第1期18卷 43-53页

作者： Ashok Agarwal Rakesh Sharma Damayanthi Durairajanayagam Zhihong Cui Ahmet Ayaz Sajal Gupta Belinda Willard Banu Gopalan edmund sabanegh Center for Reproductive Medicine Glickman Urological and Kidney Institute Cleveland Clinic Cleveland OH USA Faculty of Medicine MARA University of Technology Selanger Malaysia Lerner Research institute Cleveland Clinic Cleveland OH USA

Among infertile men, a diagnosis of unilateral varicocele is made in 90% of varicocele cases and bilateral in the remaining varicocele cases. However, there are reports of under-diagnosis of bilateral varicocele among infertile men and that its prevalence is greater than 10%. In this prospective study, we aimed to examine the differentially expressed proteins （DEP） extracted from spermatozoa cells of patients with bilateral varicocele and fertile donors. Subjects consisted of 17 men diagnosed with bilateral varicocele and 10 proven fertile men as healthy controls. Using the LTQ-orbitrap elite hybrid mass spectrometry system, proteomic analysis was done on pooled samples from 3 patients with bilateral varicocele and 5 fertile men. From these samples, 73 DEP were identified of which 58 proteins were differentially expressed, with 7 proteins unique to the bilateral varicocele group and 8 proteins to the fertile control group. Majority of the DEPs were observed to be associated with metabolic processes, stress responses, oxidoreductase activity, enzyme regulation, and immune system processes. Seven DEP were involved in sperm function such as capacitation, motility, and sperm-zona binding. Proteins TEKT3 and TCP11 were validated by Western blot analysis and may serve as potential biomarkers for bilateral varicocele. In this study, we have demonstrated for the first time the presence of DEP and identified proteins with distinct reproductive functions which are altered in infertile men with bilateral varicocele. Functional proteomic profiling provides insight into the mechanistic implications of bilateral varicocele-associated male infertility.

关键词： bilateral varicocele bioinformatics male infertility proteomics spermatozoa proteins varicocele