Klinefelter Syndrome

Smyth, Cynthia M.; Bremner, William J.

doi:10.1001/archinte.158.12.1309

Cited by 243 publications

(195 citation statements)

References 53 publications

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“…Pain is less common with breast cancer than with gynaecomastia, which may explain the delayed presentation of breast cancer in men. 60 Hypogonadism due to Klinefelter's syndrome or mumps orchitis is known to be a risk factor for breast carcinoma, 16,61,62 but it is uncertain whether there is an increased cancer risk in men with gynaecomastia due to other conditions. Evidence is emerging, however, which implicates chronic hyperoestrogenaemia, hyperprolactinaemia and/or hypoandrogenaemia with the development of breast carcinoma.…”

Section: Breast Carcinomamentioning

confidence: 99%

Endocrinology of gynaecomastia

Ismail¹,

Barth²

2001

Ann Clin Biochem

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Gynaecomastia is the most common disorder of the male breast. It can occur at any age, and for this reason laboratory investigations may be requested by clinicians from many specialties. Gynaecomastia may occur transiently in neonates. It may also occur transiently during puberty, when it is common and generally benign. It must, however, be regarded as unusual in prepubertal children and all young and middle-aged men. Although iatrogenic and benign gynaecomastia are common in the elderly, further investigations may still be justi®ed since breast cancer or other neoplasm must be ruled out. Biochemical investigations, when warranted, are aimed at establishing an underlying cause. Endocrine investigations might include serum oestradiol (or oestrone if available), testosterone, luteinizing hormone, sex-hormone-binding globulin, human chorionic gonadotrophin, prolactin and thyroid function tests. In this review, the source and role of oestrogens in men, the androgen±oestrogen dynamics, the causes and clinical entities of gynaecomastia, and interpretation of laboratory tests are described.

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Section: Breast Carcinomamentioning

confidence: 99%

Endocrinology of gynaecomastia

Ismail¹,

Barth²

2001

Ann Clin Biochem

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“…Klinefelter syndrome is a sex chromosome abnormality with a prevalence of 1/500 in males (Smyth and Bremner, 1998). Patients with Klinefelter syndrome (47XXY) have an increased risk of developing several types of cancer, such as breast cancer and extragonadal germ-cell tumors (Hasle et al, 1995;Smyth and Bremner, 1998).…”

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confidence: 99%

“…Patients with Klinefelter syndrome (47XXY) have an increased risk of developing several types of cancer, such as breast cancer and extragonadal germ-cell tumors (Hasle et al, 1995;Smyth and Bremner, 1998). In particular, breast cancer occurs only rarely in men, but Klinefelter syndrome confers a 50-fold increased risk compared with the risk in XY men (Giordano et al, 2002).…”

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confidence: 99%

Characterization of loss-of-inactive X in Klinefelter syndrome and female-derived cancer cells

et al. 2004

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The increased risk of several types of cancer in Klinefelter syndrome (47XXY) suggests that the extra X chromosome may be involved in the tumorigenesis associated with this syndrome. Here, we show that cancer cells (PSK-1) derived from a patient with Klinefelter syndrome (47XXY) showing loss of an inactive X chromosome subsequently gained active X chromosomes. We found that this abnormal X chromosome composition in PSK-1 is caused by a loss of an inactive X chromosome followed by multiplication of identical active X chromosomes, not by reactivation of an inactive X chromosome. Furthermore, we extended the characterization of loss-of-inactive X in a series of 22 female-derived cancer cell lines (eight breast cancer cell lines, seven ovarian cancer cell lines, and seven cervical cancer cell lines). The data demonstrate that lossof-inactive X in the female-derived cancer cells is mainly achieved by loss of an inactive X chromosomes followed by multiplication of an identical active X chromosomes. However, distinctive pathways, including reactivation of an inactive X chromosome, are also involved in the mechanisms for loss-of-inactive X and gain-of-active X in female-derived cancer cells. The biological significance of the loss-of-inactive X and gain-of-active X in the oncogenesis of Klinefelter syndrome and female-derived cancer cells are discussed.

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“…Furthermore, the extra X chromosome seen among KFS patients has been shown to form a Barr body (a dense chromatin mass inside the nuclei of somatic cells), although the mechanism relating Barr body formation with testicular failure has not yet been elucidated. At present, it is generally accepted that the extra X chromosome observed in 97% of KFS cases results from sporadic chromosomal non-disjunction during parental gametogenesis (53% from sperm, 44% from egg), and that the remaining 3% of cases obtain the extra X chromosome as a result of postzygotic mitotic errors (Smyth and Bremner, 1998;Amory et al, 2000).…”

Section: Discussionmentioning

confidence: 99%

Male infertility in Northeast China: molecular detection of Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome

Zhang¹,

Zhang²,

Wang³

et al. 2013

Genet. Mol. Res.

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ABSTRACT. The prevalence of microdeletions of azoospermia factor (AZF) among azoospermic Klinefelter's syndrome (KFS) patients shows conflicting data. We aimed to detect this frequency in a Northeast Chinese population, and to investigate the possible association between AZF microdeletions and KFS by comparison with previous conflicting reports. Eighty men affected with KFS and a random healthy control group comprising 60 fertile men and women were recruited. AZF microdeletions were detected by multiplex polymerase chain reaction using 9 specific sequence-tagged sites. Karyotype analyses were performed on peripheral blood lymphocytes using standard G-banding. Finally, azoospermia was confirmed in 77 men affected with KFS and no AZF microdeletions were found. Karyotype analysis revealed 1 patient with karyotype 47,XXY,inv (9) (p11, q13), and 2 with mosaic karyotypes (46,XX/47,XXY and 46,XY/47,XXY). All other patients had karyotype 47,XXY. Review of the literature showed that these results 4973©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 12 (4): 4972-4980 (2013) AZF microdeletions in azoospermic KFS patients were similar to those of other regions of Northeast Asia, but differed from those obtained from Caucasian populations. Our results supported the proposal that AZF microdeletions and KFS result from separate genetic defects. The prevalence of AZF in azoospermic KFS patients varies among populations, and it might result from genetic drift or selective pressure. These results suggest that routine screening for classical AZF microdeletions among infertile azoospermic men with a 47,XXY karyotype might not be necessary in Northeast Chinese individuals. However, it remains imperative for patients considering assisted reproductive treatments, particularly for those with mosaic karyotypes.

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Klinefelter Syndrome

Cited by 243 publications

References 53 publications

Endocrinology of gynaecomastia

Endocrinology of gynaecomastia

Characterization of loss-of-inactive X in Klinefelter syndrome and female-derived cancer cells

Male infertility in Northeast China: molecular detection of Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome

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