Growth and Development of Children with X and Y Chromosome Aneuploidy from Infancy to Pubertal Age

Stewart, Donald A.; Bailey, John D.; Netley, C.; Rovet, Joanne; Park, Elizabeth; Cripps, Mary H.; Curtis, Joseph

doi:10.1097/00006254-198310000-00013

Cited by 47 publications

(83 citation statements)

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“…Our results are in agreement with previous findings (8,9,13,28). In addition, onset of puberty as judged by the appearance of pubic hair and initial testicular enlargement was normal.…”

Section: Discussionsupporting

confidence: 93%

“…This is in agreement with the normal progression of puberty, and with data from previous studies (7)(8)(9)28). Thus, impaired T secretion is not an evident feature of KS boys during puberty.…”

Section: Discussionsupporting

confidence: 92%

“…A similar pattern in skeletal maturation was noticed by Stewart et al (28). Thus, we found no phenotypic evidence for androgen deficiency in boys with KS during early and midpuberty.…”

Section: Discussionsupporting

confidence: 91%

“…After midpuberty, however, concomitantly with elevations in basal FSH and LH levels, their response to GnRH stimulation became abnormal. These observations are in agreement with earlier findings (8,9,28) and suggest diminished testicular inhibition of gonadotropin secretion. In addition, the boys with KS developed after midpuberty low T/LH ratios.…”

supporting

confidence: 93%

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Are Adolescent Boys with Klinefelter Syndrome Androgen Deficient? A Longitudinal Study of Finnish 47,XXY Boys

et al. 2006

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Testosterone (T)-substitution therapy is widely used in adult patients with Klinefelter syndrome (KS) to prevent symptoms and sequels of androgen deficiency, but it is currently unknown if adolescent boys with KS benefit from early T therapy. To evaluate the optimal age to start T substitution, we searched for signs of androgen deficiency in pubertal boys with KS. 14 nonmosaic 47,XXY boys, aged 10 -13.9 y, were followed up for 4 -37 mo with staging of puberty and frequent reproductive hormone measurements. Furthermore, indices reflecting androgen action (serum SHBG, leptin, and prostate-specific antigen (PSA) levels) were studied. Both onset and progression of puberty according to Tanner stages were normal in boys with KS. Consistently, serum T concentrations increased as expected and remained normal throughout follow-up. Changes in the indices of androgen action (decreases in serum SHBG and leptin, and increase in serum PSA concentrations) occurred normally, except that average leptin levels were higher in the boys with KS (KS boys 11.8 Ϯ 7.0 g/L; controls 7.6 Ϯ 4.7 g/L; p ϭ 0.033). Despite normal T concentrations, the KS boys displayed from the age of 13 y elevated serum FSH and LH levels, and exaggerated gonadotropin responses to gonadotropin-releasing hormone. These data do not demonstrate an unequivocal androgen deficiency in adolescent boys with KS that would necessitate androgen supplementation therapy during early puberty.

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“…Our results are in agreement with previous findings (8,9,13,28). In addition, onset of puberty as judged by the appearance of pubic hair and initial testicular enlargement was normal.…”

Section: Discussionsupporting

confidence: 93%

Section: Discussionsupporting

confidence: 92%

“…A similar pattern in skeletal maturation was noticed by Stewart et al (28). Thus, we found no phenotypic evidence for androgen deficiency in boys with KS during early and midpuberty.…”

Section: Discussionsupporting

confidence: 91%

supporting

confidence: 93%

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Are Adolescent Boys with Klinefelter Syndrome Androgen Deficient? A Longitudinal Study of Finnish 47,XXY Boys

et al. 2006

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“…Some researchers have found that men with KS exhibit attentional deficits such as distractibility (Rovet et al, 1996), hyperactivity (Theilgaard, 1984), and problems with concentration and short-term memory (Sorensen, 1992). In contrast, Nielsen and Sorensen (1984) and Stewart et al (1986) found no evidence of attentional deficits in KS. Formal neuropsychological testing has also yielded mixed evidence of frontal dysfunction.…”

Section: Introductionmentioning

confidence: 66%

Working memory and relational reasoning in Klinefelter syndrome

Fales

Knowlton

Holyoak

et al. 2003

J Int Neuropsychol Soc

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Klinefelter syndrome (KS) is a sex chromosome abnormality associated with male infertility and mild cognitive deficits. Individuals with KS have been reported to have impaired verbal ability, as well as deficits in executive function. To further understand the nature of their deficits, we assessed specific elements of frontal lobe function such as working memory and relational reasoning. Men with KS exhibited a deficit in a transitive inference task in which participants ordered a set of names based on a list of propositions about the relative heights of the people named. This deficit was present even for items in which the propositions were given in order, so a chaining strategy could be used. Men with KS are also impaired on the n-back task, which uses letters as stimuli. In contrast, these men performed as well as controls in nonverbal reasoning (Raven's Progressive Matrices). These results suggest that men with KS have intact nonverbal reasoning abilities, but that a difficulty in encoding verbal information into working memory may underlie their executive and linguistic impairments. (JINS, 2003, 9, 839-846.)

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Klinefelter's syndrome as a model of anomalous cerebral laterality: Testing gene dosage in the X chromosome pseudoautosomal region using a DNA microarray

Geschwind¹,

Gregg

Boone

et al. 1998

Dev. Genet.

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Growth and Development of Children with X and Y Chromosome Aneuploidy from Infancy to Pubertal Age

Cited by 47 publications

References 0 publications

Are Adolescent Boys with Klinefelter Syndrome Androgen Deficient? A Longitudinal Study of Finnish 47,XXY Boys

Are Adolescent Boys with Klinefelter Syndrome Androgen Deficient? A Longitudinal Study of Finnish 47,XXY Boys

Working memory and relational reasoning in Klinefelter syndrome

Klinefelter's syndrome as a model of anomalous cerebral laterality: Testing gene dosage in the X chromosome pseudoautosomal region using a DNA microarray

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