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[Thyroid function and trisomy 21. TSH increase and rT3 deficiency].

J Lejeune1, M Peeters, M C de Blois

  • 1Institut de Progenèse, Centre Claude Bernard sur les Maladies de l'Intelligence, Paris.

Annales De Genetique
|January 1, 1988
PubMed
Summary
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Children with trisomy 21 show elevated TSH with normal T4 and T3, but a severe deficiency in reverse T3 (rT3). This rT3 deficiency may impact metabolism and warrants thyroid function monitoring in trisomy 21 patients.

Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • Thyroid dysfunction is common in children with trisomy 21.
  • Previous studies have focused on standard thyroid hormone levels.

Purpose of the Study:

  • To investigate the role of reverse T3 (rT3) in trisomy 21.
  • To assess thyroid function comprehensively in trisomy 21 patients.

Main Methods:

  • Serum samples from 78 children with trisomy 21 were analyzed.
  • Thyroid-stimulating hormone (TSH), tetraiodothyronine (T4), 3,5,3'-triiodothyronine (T3), and 3,3',5'-triiodo-thyronine (rT3) levels were measured.

Main Results:

  • Elevated TSH with normal T4 and T3 levels were confirmed.
  • A significant deficiency in rT3 was observed.

Related Experiment Videos

  • The rT3/TSH ratio was significantly decreased in trisomy 21 children.

    • Conclusions:

    • Severe rT3 deficiency plays a role in trisomy 21, potentially affecting monocarbon metabolism.
    • Systematic thyroid function monitoring, including rT3 levels, is crucial for trisomy 21 patient care.