Prenatal Testosterone Levels in XXY and XYY Males

Ratcliffe, S G; Read, G F; Pan, Huiqi; Fear, Claudine; Lindenbaum, R H; Crossley, J. N.

doi:10.1159/000184157

Cited by 45 publications

(31 citation statements)

References 15 publications

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“…Although lower levels of testosterone can be seen after the onset of puberty (Salbenblatt et al 1985), there are studies showing that prenatal testosterone levels may not differ between individuals with Klinefelter syndrome and male controls (Ratcliffe et al 1994). Although speculative, support for the hypothesis that at least some aspects of the XXY phenotype may represent the effects of X chromosomal genetic pathology rather than low testosterone levels by itself, comes from individuals with X chromosomal aneuploidies that are not associated with low testosterone levels.…”

Section: Discussionmentioning

confidence: 99%

Social Behavior and Autism Traits in a Sex Chromosomal Disorder: Klinefelter (47XXY) Syndrome

Rijn

Swaab

Alemán

et al. 2008

J Autism Dev Disord

108

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Although Klinefelter syndrome (47,XXY) has been associated with psychosocial difficulties, knowledge of the social behavioral phenotype is limited. We examined specific social abilities and autism traits in Klinefelter syndrome. Scores of 31 XXY men on the Scale for Interpersonal Behavior and the Autism Spectrum Questionnaire were compared to 24 and 20 control men respectively. XXY men reported increased distress during social interactions and less engagement in specific social behaviors. In the XXY group, levels of autism traits were significantly higher across all dimensions of the autism phenotype. These findings call for a clinical investigation of vulnerability to autism in Klinefelter syndrome. Klinefelter syndrome might serve as a model for studying a role of the X chromosome in social behavioral dysfunction and autism-like behavior.

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Section: Discussionmentioning

confidence: 99%

Social Behavior and Autism Traits in a Sex Chromosomal Disorder: Klinefelter (47XXY) Syndrome

Rijn

Swaab

Alemán

et al. 2008

J Autism Dev Disord

108

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“…When prenatal testosterone was investigated in amniotic fluid obtained at antenatal diagnosis between 16 and 20 weeks of gestation from 20 XXY fetuses and from XY and XX controls of the same age [14], no significant difference was evident between the two male groups; both had significantly higher levels than the XX fetuses.…”

Section: Reproductive Hormone Levels During Developmentmentioning

confidence: 99%

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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“…The first is that XXY, XXX, and XYY patients have diverse and opposing gonadal dysfunction, but overlap in terms of verbal learning disability [Netley, 1986;Robinson et al, 1986;Stewart et al, 1986]. Furthermore, neither XXY nor XYY men have abnormal testosterone levels in utero [Ratcliffe et al, 1994]. Last, men with similar hormonal profiles such as a heterogeneous group of congenitally hypogonadal men do not have dyslexia and do not report similar difficulties in school [Porter et al, 1988].…”

Section: Figmentioning

confidence: 99%