Sex-Chromosome Abnormalities in Newborn Babies

MacLean, Nancy; Harnden, D. G.; Brown, William; Bond, Jane; Mantle, David

doi:10.1016/s0140-6736(64)92405-5

Cited by 161 publications

(39 citation statements)

References 9 publications

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“…TS affects 1 per 2–2,500 of live female births [20] so that in a country such as the United Kingdom only around 150 girls with TS will be born each year. Also, although TS has important implications for morbidity and mortality, this is not on the scale seen in conditions such as cancer, diabetes, ischaemic heart disease, cerebrovascular disease and obesity.…”

Section: Introductionmentioning

confidence: 99%

Optimal Pubertal Induction in Girls with Turner Syndrome Using Either Oral or Transdermal Estradiol: A Proposed Modern Strategy

et al. 2019

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Background: Most girls with Turner syndrome (TS) require pubertal induction with estrogen, followed by long term replacement. However, no adequately powered prospective studies comparing transdermal with oral 17β-estradiol administration exist. This reflects the difficulty of securing funding to study a rare condition with relatively low morbidity/mortality when competing against conditions such as cancer and vascular disease. Protocol Consensus: The TS Working Group of the European Society for Paediatric Endocrinology (ESPE) has agreed to both a 3-year oral and a 3-year transdermal regimen for pubertal induction. Prerequisites include suitable 17β-estradiol tablets and matrix patches to allow the delivery of incremental doses based on body weight. Study Proposal: An international prospective cohort study with single centre analysis is proposed in which clinicians and families are invited to choose either of the agreed regimens, usually starting at 11 years. We hypothesise that pubertal induction with transdermal estradiol will result in better outcomes for some key parameters. The primary outcome measure chosen is height gain during the induction period. Analysis: Assessment of the demographics and drop-out rates of patients choosing either oral or transdermal preparations; and appropriate analysis of outcomes including pubertal height gain, final height, liver enzyme and lipid profile, adherence/acceptability, cardiovascular health, including systolic and diastolic blood pressure and aortic root diameter and bone health. Conclusion: The proposed model of prospective data collection according to internationally agreed protocols aims to break the current impasse in obtaining evidence-based management for TS and could be applied to other rare paediatric endocrine conditions.

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Section: Introductionmentioning

confidence: 99%

Optimal Pubertal Induction in Girls with Turner Syndrome Using Either Oral or Transdermal Estradiol: A Proposed Modern Strategy

et al. 2019

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“…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).…”

mentioning

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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“…The X-O anomaly, occurring once in 2,500 human female births [Maclean et al, 1964], results in a clinical entity characterized by short stature, ovarian dysgenesis and structural malformations (Turner's syndrome). This is usually associated with low estrogen and high gonadotropin secretion [Lindsten, 1963] and with a high prenatal mortality [Carr, 1965], Many patients surviving with Turner's syndrome are karyotypic mosaics [Ferrier et al, 1970].…”

mentioning

confidence: 99%