6 The sexual development of boys with the chromosome constitution 47,XXY (Klinefelter's syndrome)

Ratcliffe, S G

doi:10.1016/s0300-595x(82)80008-x

Cited by 55 publications

(41 citation statements)

References 25 publications

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“…Cord blood testosterone was significantly lower in 2 47,XXY infants and in 1 46,XY/XXY than in 3 control infants [15]. However, in another study comparing testosterone levels of 6 KS infants to levels in a large cohort of normal infants, no significant difference appeared [8]. Lahlou et al [16] compared reproductive hormone levels during minipuberty in 18 prenatally diagnosed 47,XXY boys to those in 215 healthy boys.…”

Section: Reproductive Hormone Levels During Developmentmentioning

confidence: 99%

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Testicular Function in Klinefelter Syndrome

Wikström

Dunkel²

2008

Horm Res Paediatr

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Klinefelter syndrome (KS) is the most common genetic form of male hypogonadism, but the phenotype becomes evident only after puberty. During childhood, and even during early puberty, pituitary-gonadal function in 47,XXY subjects is relatively normal, but from midpuberty onwards, FSH and LH levels increase to hypergonadotropic levels, inhibin B decreases to undetectable levels, and testosterone after an initial increase levels off at a low or low-normal level. Hence, most adult KS males display a clear hypergonadotropism with a varying degree of androgen deficiency; subsequently, testosterone substitution therapy is widely used to prevent symptoms and sequels of androgen deficiency. Testicular biopsies of prepubertal KS boys have shown preservation of seminiferous tubules with reduced numbers of germ cells, but Sertoli and Leydig cells have appeared normal. The testes in the adult KS male are, however, characterized by extensive fibrosis and hyalinization of the seminiferous tubules, and hyperplasia of the interstitium, but the tubules may show residual foci of spermatogenesis. Introduction of testicular sperm extraction in combination with intracytoplasmic sperm injection techniques has allowed non-mosaic KS males to father children.

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Section: Reproductive Hormone Levels During Developmentmentioning

confidence: 99%

“…KS is diagnosed prenatally by routine amniocentesis quite rarely, because the association with advanced maternal age is weak [3, 7], and at birth most 47,XXY neonates appear normal [8, 9]. During childhood, the KS boy often presents with language delay, learning disabilities or behavioral problems [6, 10].…”

Section: Introductionmentioning

confidence: 99%

Testicular Function in Klinefelter Syndrome

Wikström

Dunkel²

2008

Horm Res Paediatr

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“…These data were obtained from double-blinded inquiries that incorporate more detailed individual assessments, but the small sample sizes of XXY men examined (no more than 14 in any one of these studies) are important limitation. Although it has been suggested that there is increased homosexual behavior in KS compared with XY men, the issue is unresolved due to potential ascertainment bias (35). In contrast, social isolation is generally accepted to be a phenotypic characteristic of KS males (4,26,45) but also remains difficult to fully characterize through epidemiological strategies.…”

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confidence: 99%

Genetic, hormonal, and metabolomic influences on social behavior and sex preference of XXY mice

Liu

Erkkilä

Lue

et al. 2010

American Journal of Physiology-Endocrinology and Metabolism

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Lee PW, Swerdloff RS. Genetic, hormonal, and metabolomic influences on social behavior and sex preference of XXY mice. Am J Physiol Endocrinol Metab 299: E446-E455, 2010. First published June 22, 2010; doi:10.1152/ajpendo.00085.2010.-XXY men (Klinefelter syndrome) are testosterone deficient, socially isolated, exhibit impaired gender identity, and may experience more homosexual behaviors. Here, we characterize social behaviors in a validated XXY mouse model to understand mechanisms. Sociability and gender preference were assessed by three-chambered choice tasks before and after castration and after testosterone replacement. Metabolomic activities of brain and blood were quantified through fractional synthesis rates of palmitate and ribose (GC-MS). XXY mice exhibit greater sociability than XY littermates, particularly for male mice. The differences in sociability disappear after matching androgen exposure. Intact XXY, compared with XY, mice prefer male mice odors when the alternatives are ovariectomized female mice odors, but they prefer estrous over male mice odors, suggesting that preference for male mice may be due to social, not sexual, cues. Castration followed by testosterone treatment essentially remove these preferences. Fractional synthesis rates of palmitate are higher in the hypothalamus, amygdala, and hippocampus of XXY compared with XY mice but not with ribose in these brain regions or palmitate in blood. Androgen ablation in XY mice increases fractional synthesis rates of fatty acids in the brain to levels indistinguishable from those in XXY mice. We conclude that intact XXY mice exhibit increased sociability, differences in gender preference for mice and their odors are due to social rather than sexual cues and, these differences are mostly related to androgen deficiency rather than genetics. Specific metabolic changes in brain lipids, which are also regulated by androgens, are observed in brain regions that are involved in these behaviors.aneuploidy; Klinefelter syndrome; testosterone; X-inactivation; brain lipids KLINEFELTER SYNDROME (KS) was first described in 1942 and its chromosomal etiology identified in 1959 (11, 16). It is the most frequent sex chromosome aneuploidy in human males, with an incidence of 1 in 500 male conceptions and 1 in 800 -1,000 live male births (3,22,34). KS patients are males with an extra X chromosome (XXY), and the syndrome is typified by reproductive dysfunction such as androgen deficiency and associated sexual dysfunction, small testicular size, gynecomastia, delayed onset of puberty, infertility, and tall stature as well as nonreproductive characteristics, including dyslexia, slowed learning, and social isolation (17,40,42). KS males also exhibit higher rates of attention deficit hyperactivity disorder (AD/HD) and psychiatric diseases such as schizophrenia and depression. These clinical and behavioral features of KS could be explained as genetic and/or hormonal (testosterone deficiency). Others have also suggested that KS is a useful model to dissect the genetic ba...

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“…Occurrence of hypo-androgenism While a normal testicular growth and testosterone increase occurs in boys with KS at the onset of puberty, an arrest or even an involution of the testes from mid-puberty is observed in most, but not all, adolescents (29,30,31). However, most adolescents with KS pass through puberty normally, without any symptoms of hypogonadism, achieving a normal adult penis size and pubic hair development.…”

Section: Instauration Of Testosterone Replacement Treatmentmentioning

confidence: 99%

“…Azoospermia is a very constant and universal finding in adolescents and adult men with KS, but can only reliably be diagnosed after a second careful examination of the sediment of centrifuged semen. The attempts of finding spermatozoa in morning urine of young adolescents have been unsuccessful (29,68). Nevertheless, semen cryopreservation can be offered to every adolescent with KS in case of presence of spermaturia and/or detection of oligospermia in semen obtained by masturbation.…”

Section: Spermaturia and Spermogram Analysismentioning

confidence: 99%

TRANSITION IN ENDOCRINOLOGY: Management of Klinefelter syndrome during transition

Gies

Unuane

Velkeniers

et al. 2014

European Journal of Endocrinology

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Klinefelter syndrome (KS) is the most common sex chromosomal disorder in males. Key findings in older adolescents and young men are small testes with variable hypo-androgenism, but almost universal azoospermia, most frequently in combination with a history of learning difficulties and behavior problems. Males with KS may come to medical attention through different medical presentations, given its association with several congenital malformations, and psychiatric, endocrine, and metabolic disorders. Preventive care is to be provided from diagnosis, preferentially through a multidisciplinary approach, including that from an endocrinologist, clinical psychologist or psychiatrist, neurologist, urologist, geneticist, sexologist, and a fertility team. Accurate information about the condition and assessment of associated medical conditions should be offered at diagnosis and should be followed by psychological counseling. Medical treatment during transition into adulthood is focused on fertility preservation and testosterone replacement therapy in the case of hypo-androgenism, and alleviation of current or future consequences of testicular fibrosis. However, more research is needed to determine the need for pro-active testosterone treatment in adolescence, as well as the conditions for an optimal testosterone replacement and sperm retrieval in adolescents and young men with KS. Furthermore, screening for associated diseases such as metabolic syndrome, autoimmune diseases, thyroid dysfunction, and malignancies is warranted during this period of life. The practical medical management during transition and, more specifically, the role of the endocrinologist are discussed in this article.

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6 The sexual development of boys with the chromosome constitution 47,XXY (Klinefelter's syndrome)

Cited by 55 publications

References 25 publications

Testicular Function in Klinefelter Syndrome

Testicular Function in Klinefelter Syndrome

Genetic, hormonal, and metabolomic influences on social behavior and sex preference of XXY mice

TRANSITION IN ENDOCRINOLOGY: Management of Klinefelter syndrome during transition

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