Thyroid function from birth to adolescence in Prader-Willi syndrome

Area of Science:

• Pediatric Endocrinology
• Genetics
• Metabolic Disorders

Background:

• Prader-Willi syndrome (PWS) is a complex genetic disorder affecting multiple endocrine functions.
• Thyroid dysfunction is a potential concern in individuals with PWS, necessitating careful evaluation.

Purpose of the Study:

• To assess thyroid-stimulating hormone (TSH) response to thyrotropin-releasing hormone (TRH) in children and adolescents with PWS.
• To compare neonatal screening thyroid hormone levels (TSH and total thyroxine) between PWS patients and controls.

Main Methods:

• Genetically confirmed PWS participants underwent TRH stimulation tests, measuring TSH, free thyroxine (fT4), and free triiodothyronine (fT3).
• Neonatal screening data for TSH and total thyroxine (TT4) from PWS infants were compared with matched controls.

Main Results:

• One PWS subject exhibited tertiary hypothyroidism; others showed normal or borderline-normal thyroid hormone levels.
• Neonatal TSH and TT4 levels in PWS infants were comparable to controls, with no significant differences.
• Older PWS children demonstrated normal TSH responses to TRH, with fT4 in the lower normal range and fT3 above the median.

Conclusions:

• Newborns and older children with PWS generally exhibit normal thyroid function.
• The prevalence of overt hypothyroidism is low in this cohort.
• Routine prescription of levothyroxine is not indicated for individuals with PWS based on these findings.