Nonmosaic 47,XYY syndrome presenting with male infertility: case series

Abdel-Razic, Moheb M.; Abdel‐Hamid, Ibrahim A.; Elsobky, Ezzat

doi:10.1111/j.1439-0272.2010.01129.x

Cited by 28 publications

(11 citation statements)

References 27 publications

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“…Sperm production only occurs in these men that have intact AZFa and AZFb regions in their Y-chromosome. Men presenting with XYY often have azoospermia or severe oligospermia ( 11 ) with histology typically demonstrating SCOS or early maturation arrest ( 12 ). Men with Y-chromosome microdeletions have differing prognoses depending upon the site of deletion.…”

Section: Predictors Of Sperm Retrieval Rates (Srrs) In the Male Patiementioning

confidence: 99%

Microdissection testicular sperm extraction

Flannigan¹,

Bach²,

Schlegel³

2017

Transl. Androl. Urol.

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Microdissection testicular sperm extraction (microTESE) is considered the gold standard method for surgical sperm retrieval among patients with non-obstructive azoospermia (NOA). In this review, we will discuss the optimal evaluation of NOA patients and strategies to medically optimize NOA patients prior to microTESE. In addition, we will also discuss technical principles and pearls to maximize the chances of successful sperm retrieval, sperm retrieval rates (SRR) based upon testicular histology, predictors of successful sperm retrieval, gonadal recovery following microTESE, and potential complications.

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Section: Predictors Of Sperm Retrieval Rates (Srrs) In the Male Patiementioning

confidence: 99%

Microdissection testicular sperm extraction

Flannigan¹,

Bach²,

Schlegel³

2017

Transl. Androl. Urol.

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“…Although fertility may vary in XYY men, studies have reported an increased incidence of chromosomally abnormal spermatozoa in their semen. 25 26 …”

Section: Genetic Causes Of Testicular Failurementioning

confidence: 99%

Recent advances in the genetics of testicular failure

et al. 2016

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Infertility affects approximately 15% of couples, and male factor is responsible for 30%–50% of all infertility. The most severe form of male infertility is testicular failure, and the typical phenotype of testicular failure is severely impaired spermatogenesis resulting in azoospermia or severe oligozoospermia. Although the etiology of testicular failure remains poorly understood, genetic factor typically is an underlying cause. Modern assisted reproductive techniques have revolutionized the treatment of male factor infertility, allowing biological fatherhood to be achieved by many men who would otherwise have been unable to become father to their children through natural conception. Therefore, identifying genetic abnormalities in male is critical because of the potential risk of transmission of genetic abnormalities to the offspring. Recently, along with other intense researches ongoing, whole-genome approaches have been used increasingly in the genetic studies of male infertility. In this review, we focus on the genetics of testicular failure and provide an update on the advances in the study of genetics of male infertility.

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“…Men with a 47,XYY karyotype are generally fertile, but they are seen more frequently in infertile populations. There have been a few reports of 47,XYY syndromes in azoospermic males as in our study (one case) (Etem et al ., ; Abdel‐Razic et al ., ). Since many 47,XYY men have normal semen parameters, the severe oligoospermia observed in these men may indicate more perturbations during meiotic pairing, subsequent loss of germ cells and the production of aneuploid sperm (El‐Dahtory & Elsheikha, ).…”

Section: Discussionmentioning

confidence: 97%

Fluorescencein situhybridisation analysis of sex chromosome in non-obstructive azoospermic men

Sadik

Seifeldin

2013

Andrologia

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The aim of this study was to compare results of karyotypes and fluorescence in situ hybridisation (FISH) technique among non-obstructive azoospermic men and to evaluate feasibility of using FISH to assess the types of major sex chromosome abnormalities. We compared results of karyotypes and FISH technique in those patients, and the association between genetic abnormality and clinical and hormonal parameters was evaluated. We studied 68 non-obstructive azoospermic men using conventional cytogenetics and FISH. Karyotyping revealed chromosomal abnormalities in 28 males (41%); the most common was Klinefelter syndrome (82%). FISH proved very effective in verifying low level of mosaisim in two cases with Klinefelter syndrome and complex chromosomal rearrangements in four cases with structural sex chromosome abnormalities. Our results indicate that genetic testing and screening is important in men with hypergonadotrophic azoospermia prior to the employment of assisted reproduction techniques. FISH analysis is recommended before discussing the risk of chromosomal aberrations in the offspring of infertile couples.

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Nonmosaic 47,XYY syndrome presenting with male infertility: case series

Cited by 28 publications

References 27 publications

Microdissection testicular sperm extraction

Microdissection testicular sperm extraction

Recent advances in the genetics of testicular failure

Fluorescencein situhybridisation analysis of sex chromosome in non-obstructive azoospermic men

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