Spermatogenesis in Klinefelter syndrome

Selice, Riccardo; Mambro, Antonella Di; Garolla, Andrea; Ficarra, Vincenzo; Iafrate, Massimo; Ferlin, Alberto; Foresta, Carlo

doi:10.1007/bf03350343

Cited by 57 publications

(41 citation statements)

References 36 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In men with Klinefelter syndrome, the successful rate of sperm retrieval using testicular sperm extraction has ranged from 27 to 69% [3] . In men with with signs of testicular dysfunction in ultrasound, such as inhomogenous testicular architecture and testicular microlithiasis, a biopsy may show carcinoma-in-situ of the testis, the precursor of testicular cancer.…”

Section: Discussionmentioning

confidence: 99%

Testicular Biopsy in Male Infertility

Ammal¹

2017

jmscr

View full text Add to dashboard Cite

Section: Discussionmentioning

confidence: 99%

Testicular Biopsy in Male Infertility

Ammal¹

2017

jmscr

View full text Add to dashboard Cite

“…In very few cases, men with nonmosaic Klinefelter syndrome ejaculate spermatozoa (Crüger et al, 2001;Tachdjian et al, 2003;Selice et al, 2010). This has resulted in the birth of healthy children, following ICSI.…”

Section: Introductionmentioning

confidence: 99%

Clinical characteristics of men with non-mosaic Klinefelter syndrome in northeastern China: implications for genetic counseling

Zhang¹,

Ht²,

Hs³

et al. 2015

Genet. Mol. Res.

View full text Add to dashboard Cite

ABSTRACT. Klinefelter syndrome (KS) is the most common genetic cause of male infertility. Widespread development in assisted reproductive technology has provided non-mosaic KS patients with the opportunity of having biological children. Testosterone replacement therapy and micro-dissection testicular sperm extraction are effective sperm retrieval techniques for KS patients. Despite the success of sperm retrieval and intracytoplasmic sperm injection (ICSI), some areas of early aggressive hormonal spermatogenesis and appropriate management of KS remain controversial. Androgenotherapy, a common treatment for KS, carries a risk of decreasing focal spermatogenesis by lowering the gonadotropin content. Inadequately treated hypogonadism increases psychosocial morbidity in KS patients. Preventive care must be provided from the time of diagnosis, preferentially through a multidisciplinary approach. This indicates the need for improved genetic counseling of KS patients. The aim of this study was to report the prevalence of non-mosaic KS in a Chinese infertile male population. The rate of early diagnosis was lower in KS patients; most of these were diagnosed after rising concerns of reproductive capacity. The mean age of patients with sperm or germ cells was significantly lower, while the semen volume of these patients was significantly higher. However, the semen volume was negatively correlated with the age and ratio of luteinizing hormone/testosterone content in KS patients. Therefore, genetic counseling of KS patients should focus on early diagnosis and timely treatment, in addition to improving the quality of life of all KS patients. The use of testosterone replacement therapy and/ or micro-dissection testicular sperm extraction should be preferentially considered for fertility preservation.

show abstract

“…unable to enter and complete meiosis, possibly because of the presence of two functional X chromosomes [16], and assume that the origin of spermatozoa is from normal 46, XY germ cells that are located in the testes [4,17,18]. Others believe that mitotic and meiotic progression of these cells is possible [5,18].…”

Section: Introductionmentioning

confidence: 99%

“…Others believe that mitotic and meiotic progression of these cells is possible [5,18]. Researchers have used various ways to find out the cause for the presence or absence of these euploid and aneuploid spermatozoa and to investigate their origin and precursor cells.…”

Section: Introductionmentioning

confidence: 99%

Ploidy of spermatogenic cells of men with non-mosaic Klinefelter’s syndrome as measured by a computerized cell scanning system

Komsky-Elbaz

Raziel

Ben‐Ami

et al. 2015

J Assist Reprod Genet

View full text Add to dashboard Cite

Purpose This study aims to characterize the origin of testicular post-meiotic cells in non-mosaic Klinefelter's syndrome (KS). Methods The study included testicular tissue specimens from 11 non-mosaic KS patients, with (6 positive) and without (5 negative) spermatozoa presence. The obtained testicular cells were affixed and stained for morphology followed by fluorescence in situ hybridization (FISH) for centromeric probes X, Y, and 18. We used a computerized automated cell scanning system that enables simultaneous viewing of morphology and FISH in the same cell. Results A total of 12,387 cells from the positive cases, 11,991 cells from the negative cases, and 1,711 cells from the controls were analyzed. The majority of spermatogonia were 47, XXY in both the positive and negative KS cases (88.9±4.76 % and 90.6±4.58 %) as were primary spermatocytes (76.8±8.14 % and 79.6±7.30 %). The respective rates of secondary spermatocytes and post-meiotic cells (round, elongating spermatids and sperm cells) were 1.1±1.39 % in the positive cases, 2.9±3.33 % in the negative cases, compared to 67.6±6.22 % in the controls (P<0.02). Pairing of both 18 and XY homologous chromosomes in 46,XY primary spermatocytes was 2.5 ±2.31 % and 3.4±2.39 %, respectively, compared to 19.8± 8.95 % in the control group (P<0.02) and in 47,XXY primary spermatocytes in 2.4±3.8 % in the positive group and 3.2± 2.26 % in the negative group. Conclusions This study presents data to indicate that the majority of primary spermatocytes in the testes of non-mosaic KS patients are 47,XXY and could possibly develop into postmeiotic cells.

show abstract

Spermatogenesis in Klinefelter syndrome

Abstract: Men with KS are not always sterile. In some of these patients sperm can be found in semen or in the testis, but the proportion of sperm aneuploidy is high. Signs of hypoandrogenism seem to be associated with low sperm recovery rate.

Cited by 57 publications

References 36 publications

Testicular Biopsy in Male Infertility

Testicular Biopsy in Male Infertility

Clinical characteristics of men with non-mosaic Klinefelter syndrome in northeastern China: implications for genetic counseling

Ploidy of spermatogenic cells of men with non-mosaic Klinefelter’s syndrome as measured by a computerized cell scanning system

Contact Info

Product

Resources

About