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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
Summary
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.
- 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.