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Thyroid function in Rubinstein-Taybi syndrome

D P Olson1, R J Koenig

  • 1Division of Endocrinology and Metabolism, University of Michigan Medical Center, Ann Arbor 48109-0678, USA.

The Journal of Clinical Endocrinology and Metabolism
|November 5, 1997
PubMed
Summary
This summary is machine-generated.

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Rubinstein-Taybi syndrome (RTS), caused by CREB-binding protein mutations, was investigated for thyroid hormone resistance. Studies found normal thyroid hormone levels, suggesting overt resistance is not a typical feature of RTS.

Area of Science:

  • Genetics
  • Endocrinology
  • Developmental Biology

Background:

  • Rubinstein-Taybi syndrome (RTS) is a genetic disorder linked to CREB-binding protein (CBP) gene mutations.
  • CBP acts as a coactivator for thyroid hormone receptors, suggesting a potential link between RTS and thyroid hormone resistance.
  • Clinical features of RTS, including developmental delays and short stature, overlap with symptoms of thyroid hormone deficiency or resistance.

Purpose of the Study:

  • To investigate the thyroid axis function in individuals with Rubinstein-Taybi syndrome.
  • To determine if overt thyroid hormone resistance is a characteristic feature of RTS.

Main Methods:

  • Measurement of serum free thyroxine (free T4) levels in 12 RTS subjects.
  • Measurement of serum thyroid-stimulating hormone (TSH) levels in 12 RTS subjects.

Related Experiment Videos

  • Comparison of measured hormone levels with established normal ranges.

    • Main Results:

    • All 12 subjects with RTS exhibited normal free T4 levels (mean +/- SD, 0.97 +/- 0.20 ng/dL).
    • All 12 subjects with RTS showed normal TSH levels (mean +/- SD, 2.24 +/- 0.87 microU/mL).
    • No significant deviations from normal ranges were observed for either free T4 or TSH.

    Conclusions:

    • Overt thyroid hormone resistance does not appear to be a typical clinical feature of Rubinstein-Taybi syndrome.
    • The thyroid axis functions normally in individuals with RTS, despite the genetic link to CBP.
    • Further research may explore subtle thyroid axis alterations or other endocrine functions in RTS.