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Thyroid axis dysfunction in patients with Prader-Willi syndrome during the first 2 years of life.
Clin Endocrinol (Oxf). 2010 Oct; 73(4):546-50.CE

Abstract

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.

Authors+Show Affiliations

Endocrine Service Genetics Service, Hospital de Pediatria Garrahan, Buenos Aires, Argentina.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

20560980

Citation

Vaiani, Elisa, et al. "Thyroid Axis Dysfunction in Patients With Prader-Willi Syndrome During the First 2 Years of Life." Clinical Endocrinology, vol. 73, no. 4, 2010, pp. 546-50.
Vaiani E, Herzovich V, Chaler E, et al. Thyroid axis dysfunction in patients with Prader-Willi syndrome during the first 2 years of life. Clin Endocrinol (Oxf). 2010;73(4):546-50.
Vaiani, E., Herzovich, V., Chaler, E., Chertkoff, L., Rivarola, M. A., Torrado, M., & Belgorosky, A. (2010). Thyroid axis dysfunction in patients with Prader-Willi syndrome during the first 2 years of life. Clinical Endocrinology, 73(4), 546-50. https://doi.org/10.1111/j.1365-2265.2010.03840.x
Vaiani E, et al. Thyroid Axis Dysfunction in Patients With Prader-Willi Syndrome During the First 2 Years of Life. Clin Endocrinol (Oxf). 2010;73(4):546-50. PubMed PMID: 20560980.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Thyroid axis dysfunction in patients with Prader-Willi syndrome during the first 2 years of life. AU - Vaiani,Elisa, AU - Herzovich,Viviana, AU - Chaler,Eduardo, AU - Chertkoff,Lilien, AU - Rivarola,Marco A, AU - Torrado,Maria, AU - Belgorosky,Alicia, PY - 2010/6/22/entrez PY - 2010/6/22/pubmed PY - 2011/5/12/medline SP - 546 EP - 50 JF - Clinical endocrinology JO - Clin. Endocrinol. (Oxf) VL - 73 IS - 4 N2 - 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. SN - 1365-2265 UR - https://www.unboundmedicine.com/medline/citation/20560980/Thyroid_axis_dysfunction_in_patients_with_Prader_Willi_syndrome_during_the_first_2_years_of_life_ L2 - https://doi.org/10.1111/j.1365-2265.2010.03840.x DB - PRIME DP - Unbound Medicine ER -