A Review of Klinefelter's Syndrome in Children and Adolescents

Mandoki, Miguel W.; Sumner, Gavla S.; Hoffman, Robert R.; Riconda, Daniel

doi:10.1097/00004583-199103000-00001

Cited by 86 publications

(77 citation statements)

References 32 publications

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“…Klinefelter Syndrome (KS) is a sex chromosome abnormality affecting approximately 1 in 800 males (Mandoki et al, 1991). It is characterized by the presence of an extra X chromosome, and is accompanied by infertility and other signs such as tall stature, smaller genitals, hormonal imbalances at puberty, and gynecomastia (Rovet et al, 1996).…”

Section: Introductionmentioning

confidence: 99%

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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Section: Introductionmentioning

confidence: 99%

Working memory and relational reasoning in Klinefelter syndrome

Fales

Knowlton

Holyoak

et al. 2003

J Int Neuropsychol Soc

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“…Compared with their peers, many adolescents with KS consider themselves more sensitive, introspective, and insecure and have less interest in girls (24,25). Furthermore, an increased incidence of anxiety, depression, and substance abuse has been reported in adolescents with KS (26).…”

Section: Psychological Supportmentioning

confidence: 99%

“…If learning problems, such as dyslexia, impairment of verbal and non-verbal memory, or planning problems, are not recognized and addressed, additional behavioral problems may emerge as a consequence of unmet needs and increased frustration. On the other hand, social incompetence and problems with control of aggressive behavior might increase the risk for scholastic failure (25).…”

Section: Psychiatric Conditionsmentioning

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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“…5 Although overall intelligence may be within normal range, it has been noted that KS patients tend to have deficits in verbal and motor skills. 14 Finally, routine dental care should be arranged, because more than 40% of patients with KS experience accelerated tooth decay, predisposing to dental caries. 1 …”

Section: Medical Management and Surveillancementioning

confidence: 99%