Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism

Bonomi, Marco; Rochira, Vincenzo; Pasquali, Daniela; Balercia, Giancarlo; Jannini, Emmanuele A.; Ferlin, Alberto

doi:10.1007/s40618-016-0541-6

Cited by 257 publications

(238 citation statements)

References 97 publications

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“…A treatment, when begins in early life, could prevents some difficulties and developmental risk, considered with specific regard to the language and subsequently with possible emotional and behavioral problems. In fact, KS subjects, who had prenatal diagnosis, develop learning and language disabilities in a lower proportion than patients diagnosed by chance [48]. A limit of the present study is to have not considered the correlation between the age of diagnosis and the different disabilities of patients.…”

Section: Discussionmentioning

confidence: 80%

Variability in Cognitive Behavioral Phenotypes in Klinefelter Syndrome (KS) and Other Sex Chromosomal Aneuploidies (SCAs)

Verri¹,

D’Angelo²,

Cremante³

et al. 2017

Andrology

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Sex Chromosomal Aneuploidies (SCAs) are the most frequently occurring chromosomal abnormalities with an incidence of 1 in 450 births. Males with SCAs are known to have variability in their developmental profile. Aim of this paper is to illustrate clinical variability in the different SCAs. The sample was composed by 53 subjects (mean age=21.16 years, range: 13-54) with karyotype 47, XXY (73%), 49, XXXXY (7%), 48, XXYY (9%), mosaicism 47, XXY/48, XXXY (2%), 47, XYY (5%), 48, XXXY (2%), 49, XXXYY (2%). Only 5 subjects have been diagnosed prenatally (4 KS and 1 XXYY). Primary caregivers completed a comprehensive questionnaire detailing birth, medical, developmental and psychological history. Cognitive and behavioral assessment was performed with clinical interviews with DSM IV criteria and psychometric questionnaires (WISC-R, WAIS-R, CPM, Token Test, VABS, SCL90, and SCQ). Twenty-one sex and age matched subjects karyotypically normal were also evaluated from the behavioural point of view. Mean IQ in typical KS was 87.45 ± 2 ds (sd=20.12) range [21][22][23][24][25][26][27][28][29][30][31][32][33][34][35] while in CPM the other SCAs subjects scored 22.27 (range 10-35) and 22.50 (range 9-31) in the Token Test (p<0.05). VABS scores documented more marked impairment on adaptive behavior in atypical SCAs subjects. SCL90 documented an elevation of paranoid scale in the 70% of KS subjects and 50% of other SCAs. Autistic traits were present in 67% of the other SCAs subjects and in the 18% of KS at the SCQ. A precise identification of the cognitive and behavioral phenotype in different SCAs may enhance the clinical treatment, anticipatory guidance, and care throughout the lifespan.

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Section: Discussionmentioning

confidence: 80%

Variability in Cognitive Behavioral Phenotypes in Klinefelter Syndrome (KS) and Other Sex Chromosomal Aneuploidies (SCAs)

Verri¹,

D’Angelo²,

Cremante³

et al. 2017

Andrology

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“…XXY occurs in ~1/600 live births, although it may not be diagnosed in some individuals due to mild symptoms. Typical characteristics include small testes and low androgen levels, infertility, tall stature, and learning delays, but these vary among affected individuals [31]. Based on results from mouse studies showing that presence of two X chromosomes promotes fat storage more than a single X chromosome, the prediction would be that XXY men would have greater fat storage than XY men.…”

Section: Sex Chromosome Complement Is a Risk Factor For Obesitymentioning

confidence: 99%

Sex differences in obesity: X chromosome dosage as a risk factor for increased food intake, adiposity and co-morbidities

Reue

2017

Physiology & Behavior

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Obesity is a world-wide problem, and a risk factor for cardiovascular disease, diabetes, cancer and other diseases. It is well established that sex differences influence fat storage. Males and females exhibit differences in anatomical fat distribution, utilization of fat stores, levels of adipose tissue-derived hormones, and obesity co-morbidities. The basis for these sex differences may be parsed into the effects of male vs. female gonadal hormones and the effects of XX vs. XY chromosome complement. Studies employing mouse models that allow the distinction of gonadal from chromosomal effects have revealed that X chromosome dosage influences food intake, which in turn affects adiposity and the occurrence of adverse metabolic conditions such as hyperinsulinemia, hyperlipidemia, and fatty liver. The identification of X chromosome dosage as a player in the behavior and physiology related to obesity suggests novel molecular mechanisms that may underlie sex differences in obesity and metabolism.

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“…Seventeen years later, Jacobs and Strong [1959] reported the presence of an extra X chromosome in men with the characteristics of KS. In 80-90% of cases, the 47,XXY karyotype results from aneuploidy of the sex chromosomes [Bonomi et al, 2017]. The associated phenotype is relatively benign, and KS prevalence is estimated in 1-2 per 1,000 males, making it the commonest form of hyper gonadotropic hypogonadism [Nieschlag, 2013].…”

Section: Resultsmentioning

confidence: 99%

Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype

Batista¹,

Rodrigues²,

Nishi³

et al. 2017

Sex Dev

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There are only 2 patients with 47,XXY karyotype and androgen receptor (AR) gene mutation reported in the literature, and both are diagnosed as complete androgen insensitivity syndrome (CAIS). We report a 22-year-old female with 47,XXY karyotype and atypical external genitalia. Sequencing of AR revealed the heterozygous p.Asn849Lys*32 mutation, and extensive X chromosome microsatellite analysis showed homozygosity for Xp and heterozygosity for Xq, suggesting partial X maternal isodisomy. Partial androgen insensitivity syndrome (PAIS) developed in this case, probably because of the presence of the heterozygous AR mutation and random X- inactivation of the healthy allele. This is the first report of a female patient with 47,XXY karyotype and PAIS phenotype.

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Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism

Cited by 257 publications

References 97 publications

Variability in Cognitive Behavioral Phenotypes in Klinefelter Syndrome (KS) and Other Sex Chromosomal Aneuploidies (SCAs)

Variability in Cognitive Behavioral Phenotypes in Klinefelter Syndrome (KS) and Other Sex Chromosomal Aneuploidies (SCAs)

Sex differences in obesity: X chromosome dosage as a risk factor for increased food intake, adiposity and co-morbidities

Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype

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