New concepts in Klinefelter syndrome

Paduch, Darius A.; Fine, Ronnie; Bolyakov, Alexander; Kiper, Joseph

doi:10.1097/mou.0b013e32831367c7

Cited by 80 publications

(52 citation statements)

References 42 publications

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“…*P < 0.05 compared to KS male with sperm or germ cells. Early diagnosis and treatment improves the quality of life and the overall health of men with Klinefelter syndrome (Paduch et al, 2008). However, there remain some controversies regarding the age of testosterone replacement therapy.…”

Section: Discussionmentioning

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.

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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.

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Section: Discussionmentioning

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.

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“…Because of the presence of spermatogenesis early in puberty, sperm from these patients may be obtained and preserved for future use in fertility treatment. If no sperm can be found, testicular tissue can be cryopreserved for future use (Paduch et al 2008;Paduch et al 2009;Mehta and Paduch 2012;Mehta et al 2013;Wosnitzer and Paduch 2013).…”

Section: Introductionmentioning

confidence: 99%

Preserving children’s fertility: two tales about children’s right to an open future and the margins of parental obligations

Cutas

Hens

2014

Med Health Care and Philos

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The sources, extent and margins of parental obligations in taking decisions regarding their children's medical care are subjects of ongoing debates. Balancing children's immediate welfare with keeping their future open is a delicate task. In this paper, we briefly present two examples of situations in which parents may be confronted with the choice of whether to authorise or demand non-therapeutic interventions on their children for the purpose of fertility preservation. The first example is that of children facing cancer treatment, and the second of children with Klinefelter syndrome. We argue that, whereas decisions of whether to preserve fertility may be prima facie within the limits of parental discretion, the right to an open future does not straightforwardly put parents under an obligation to take actions that would detect or relieve future infertility in their children-and indeed in some cases taking such actions is problematic.

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“…In the other 50 %, no germ cells at all or different stages including post-meiotic cells with no mature figures might be present (KS negative). Although higher rates of sex and autosomal aneuploidy have been reported in positive KS patients [5][6][7][8][9][10][11], most offspring had a normal karyotype [12,13]. To date, only one fetus with the 47,XXY karyotype has been conceived and reduced in the 14th gestational week (from a triplet pregnancy) [14], and two other fetuses have been diagnosed as mosaic 46,XY/47,XXY karyotype by preimplantation genetic diagnosis (PGD) [15].…”

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

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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.

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New concepts in Klinefelter syndrome

Cited by 80 publications

References 42 publications

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

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

Preserving children’s fertility: two tales about children’s right to an open future and the margins of parental obligations

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

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