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Related Experiment Videos

Thyroid function in fragile-X syndrome males.

J D Bregman1, J F Leckman, S I Ort

  • 1Child Study Center, Yale University School of Medicine, New Haven, Connecticut 06510.

The Yale Journal of Biology and Medicine
|July 1, 1990
PubMed
Summary
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Fragile-X syndrome males showed normal thyroid hormone levels but a blunted thyroid stimulating hormone (TSH) response to thyrotropin releasing hormone (TRH), indicating subtle hypothalamic-pituitary-thyroid axis dysfunction.

Area of Science:

  • Endocrinology
  • Neurogenetics
  • Pediatric Endocrinology

Background:

  • Fragile-X syndrome is a genetic disorder associated with intellectual disability and behavioral challenges.
  • Previous studies suggest potential hypothalamic-pituitary axis abnormalities in males with Fragile-X syndrome.

Purpose of the Study:

  • To assess thyroid function in males with Fragile-X syndrome.
  • To investigate the hypothalamic-pituitary-thyroid axis response to thyrotropin releasing hormone (TRH) in this population.

Main Methods:

  • Thyroid function tests including TSH, thyroxine, TBG, and EFT were performed.
  • TSH response to TRH stimulation was measured.
  • Prolactin levels were assessed.

Main Results:

Related Experiment Videos

  • All subjects had normal baseline thyroid function tests.
  • A blunted TSH response to TRH was observed compared to controls.
  • Elevated baseline prolactin levels were noted in the Fragile-X group.

Conclusions:

  • Males with Fragile-X syndrome may have subtle hypothalamic-pituitary-thyroid axis dysfunction.
  • These findings support existing evidence of hypothalamic-pituitary abnormalities in Fragile-X syndrome.