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Thyroid axis dysfunction in patients with Prader-Willi syndrome during the first 2 years of life
Elisa Vaiani1, Viviana Herzovich, Eduardo Chaler
1Endocrine Service Genetics Service, Hospital de Pediatria Garrahan, Buenos Aires, Argentina.
Insights
Infant Prader-Willi syndrome (PWS) patients frequently exhibit thyroid dysfunction. Early evaluation of the hypothalamic-pituitary-thyroid axis is crucial for neurological development in these children.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Neuroendocrinology
Background:
- Prader-Willi syndrome (PWS) is a genetic disorder impacting chromosome 15q11-13, primarily affecting hypothalamic function.
- Central hypothyroidism is observed in 20-30% of PWS patients, but early-life thyroid function remains undefined.
Purpose of the Study:
- To assess hypothalamic-pituitary-thyroid function in infants diagnosed with Prader-Willi syndrome.
- To define thyroid hormone levels during the critical first two years of life in PWS patients.
Main Methods:
- A prospective study included 18 infants with PWS (age 0.16-2 years) confirmed by clinical and molecular analysis.
- Serum levels of total T4, free T4, T3, and TSH were measured and compared to a large age-matched reference population.
Main Results:
- 72.2% of PWS infants (13/18) showed serum total T4 and/or free T4 levels below the 2.5th percentile.
- Only one PWS patient had serum T3 levels below the 2.5th percentile.
Conclusions:
- Infant PWS patients frequently present with transient or permanent thyrotropin-releasing hormone-TSH thyroid axis dysfunction.
- Pediatricians must recognize this thyroid dysfunction during infancy due to its impact on neurological development.
Introduction:
Prader-Willi syndrome (PWS) is a genetic disorder caused by the loss of expression of paternally transcribed genes in a highly imprinted region of chromosome 15q11-13. The clinical phenotype has been well characterized, mostly related to hypothalamic dysfunction. Even though central hypothyroidism has been documented in 20-30% of patients with PWS, thyroid function during the first 2 years of life has not been clearly defined.
Objective:
To evaluate hypothalamic-pituitary-thyroid function in infant PWS patients.
Study Design:
Eighteen patients with PWS, aged 0.16-2 years, were included in a prospective study. PWS diagnosis was based on clinical features and molecular analysis. Serum total (T) T4, free (F) T4, T3 and thyroid-stimulating hormone (TSH) were evaluated in the patients with PWS included in the study. Serum hormone values were compared to those of a large reference population of the same age.
Results:
In 13 of 18 patients with PWS (72.2%), serum TT4 and/or FT4 levels were below the 2.5th percentile of the reference population, while in only one PWS patient serum T3 was below this cut-off.
Conclusion:
The results of this study suggest that transient or definitive thyrotropin-releasing hormone (TRH)-TSH thyroid axis dysfunction may frequently be present in infant PWS patients. Paediatricians should be aware of this dysfunction in this critical period of thyroid hormone action on neurological development.
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