Serum concentrations of follicle stimulating hormone may predict premature ovarian failure in FRAXA premutation women

Webb, James L.; MacSwiney, Felicity; Shipley, Emma L.; Morton, N. E.; Conway, Gerard S.

doi:10.1093/humrep/14.5.1217

Cited by 68 publications

(41 citation statements)

References 11 publications

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“…16 In women who are still cycling we have demonstrated an increased level of serum FSH in the premutation group compared with controls. 13 In a small pilot study Braat et al 17 reported the hormonal profiles of nine premutation carriers under age 40 and found levels suggestive of ovarian failure in eight of them. Thus even in the absence of early menopause the premutation group appears to have the hormonal markers of ovarian failure.…”

Section: Discussionmentioning

confidence: 99%

“…The results of the analysis of FSH and oestradiol have been published, 13 but we also tested the two subunits of the hormone inhibin which is thought to be a good predictor of ovarian reserve. Because inhibin levels vary considerably over the follicular phase of the cycle, only sera taken on days 3, 4 or 5 were considered in the analysis.…”

Section: Hormone Analysismentioning

confidence: 99%

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Reproductive and menstrual history of females with fragile X expansions

Ennis²,

et al. 2000

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FRAXA premutations have been associated with premature ovarian failure (POF) or menopause before the age of 40. We have studied women in families ascertained because of a mentally retarded full mutation relative and determined their age of menopause, serum hormone levels in premenopausal individuals and the outcome of any pregnancies. Survival analysis was used as a measure of menopause and demonstrated a significant decrease in age of menopause in premutation carriers compared with their full mutation carrier and normal relatives. Serum FSH was also raised in premutation carriers, although oestradiol, inhibin A and inhibin B were not significantly different. However, we did not find an excess of dizygous twins or pregnancy loss/trisomies, both of which are associated with aging ovaries. Thus premutation carriers as a group have an earlier menopause and raised serum FSH but do not appear to manifest other features of an aging ovary.

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Section: Discussionmentioning

confidence: 99%

Section: Hormone Analysismentioning

confidence: 99%

Reproductive and menstrual history of females with fragile X expansions

Ennis²,

et al. 2000

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“…In contrast, the incidence of POF in the general population of women under 40 is estimated to be 1% [Coulam et al, 1986]. The hypothesis that POF is due to hypothalamic overstimulation has been supported by several studies documenting elevated FSH in these women [Braat et al, 1999;Murray et al, 1999]. However, whether POF in the premutation is because of a hormonal abnor- Fig.…”

Section: Neuroendocrinologymentioning

confidence: 99%

The neuroanatomy and neuroendocrinology of fragile X syndrome

Hessl¹,

Rivera²,

Reiss³

2004

Ment. Retard. Dev. Disabil. Res. Rev.

149

106

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Fragile X syndrome (FXS), caused by a single gene mutation on the X chromosome, offers a unique opportunity for investigation of gene-brain-behavior relationships. Recent advances in molecular genetics, human brain imaging, and behavioral studies have started to unravel the complex pathways leading to the cognitive, psychiatric, and physical features that are unique to this syndrome. In this article, we summarize studies focused on the neuroanatomy and neuroendocrinology of FXS. A review of structural imaging studies of individuals with the full mutation shows that several brain regions are enlarged, including the hippocampus, amygdala, caudate nucleus, and thalamus, even after controlling for overall brain volume. These regions mediate several cognitive and behavioral functions known to be aberrant in FXS such as memory and learning, information and sensory processing, and social and emotional behavior. Two regions, the cerebellar vermis, important for a variety of cognitive tasks and regulation of motor behavior, and the superior temporal gyrus, involved in processing complex auditory stimuli, are reported to be reduced in size relative to controls. Functional imaging, typically limited to females, has emphasized that individuals with FXS do not adequately recruit brain regions that are normally utilized by unaffected individuals to carry out various cognitive tasks, such as arithmetic processing or visual memory tasks. Finally, we review a number of neuroendocrine studies implicating hypothalamic dysfunction in FXS, including abnormal activation of the hypothalamic-pituitary-adrenal (HPA) axis. These studies may help to explain the abnormal stress responses, sleep abnormalities, and physical growth patterns commonly seen in affected individuals. In the future, innovative longitudinal studies to investigate development of neurobiologic and behavioral features over time, and ultimately empirical testing of pharmacological, behavioral, and even molecular genetic interventions using MRI are likely to yield significant positive changes in the lives of persons with FXS, as well as increase our understanding of the development of psychiatric and learning problems in the general population.

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“…Vianna-Morgante et al [1999] found that premutation carriers also have an increased rate of twinning, a finding consistent with reproductive aging in which dizygotic twinning is increased, possibly due to the elevated FSH levels resulting from decreased ovarian feedback [Lambalk et al, 1998]. Several studies suggest that FSH is elevated in fragile X premutation carriers [Braat et al, 1999;Murray et al, 1999;Hundscheid et al, 2001]. However, these studies have sample sizes that are too small to evaluate hormonal changes.…”

Section: Premature Ovarian Failurementioning

confidence: 99%

Fragile X syndrome

Terracciano

Chiurazzi²,

Neri

2005

American J of Med Genetics Pt C

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Fragile X syndrome, the most common genetic disorder associated with mental retardation is caused by an expansion of the unstable CGG repeat within the FMR1 gene. Although overgrowth is not the main hallmark of this condition, the fragile X syndrome is usually included in the differential diagnosis of children with mental retardation and excess growth. This review highlights the most recent advances in the field of fragile X research.

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Serum concentrations of follicle stimulating hormone may predict premature ovarian failure in FRAXA premutation women

Cited by 68 publications

References 11 publications

Reproductive and menstrual history of females with fragile X expansions

Reproductive and menstrual history of females with fragile X expansions

The neuroanatomy and neuroendocrinology of fragile X syndrome

Fragile X syndrome

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