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Congenital hypothyroidism with Prader-Willi syndrome.
J Pediatr Endocrinol Metab. 2002 Jan; 15(1):105-7.JP

Abstract

We report a 1 year-old female patient with severe hypotonia who has congenital hypothyroidism and Prader-Willi syndrome (PWS). At birth she was found to have congenital hypothyroidism caused by an ectopic sublingual thyroid gland and was commenced on thyroid replacement therapy. She continued to have severe motor delay and therefore further diagnostic evaluation was performed. PWS was confirmed by DNA and fluorescence in situ hybridization (FISH) analysis. This report emphasizes the need to further investigate patients who are found to have congenital hypothyroidism and do not improve adequately on treatment.

Authors+Show Affiliations

Genetic Institute, Assaf-Harofeh Medical Center Zrifin, Israel. carrons@asaf.health.gov.ilNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

11822575

Citation

Sher, Carron, et al. "Congenital Hypothyroidism With Prader-Willi Syndrome." Journal of Pediatric Endocrinology & Metabolism : JPEM, vol. 15, no. 1, 2002, pp. 105-7.
Sher C, Bistritzer T, Reisler G, et al. Congenital hypothyroidism with Prader-Willi syndrome. J Pediatr Endocrinol Metab. 2002;15(1):105-7.
Sher, C., Bistritzer, T., Reisler, G., & Reish, O. (2002). Congenital hypothyroidism with Prader-Willi syndrome. Journal of Pediatric Endocrinology & Metabolism : JPEM, 15(1), 105-7.
Sher C, et al. Congenital Hypothyroidism With Prader-Willi Syndrome. J Pediatr Endocrinol Metab. 2002;15(1):105-7. PubMed PMID: 11822575.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Congenital hypothyroidism with Prader-Willi syndrome. AU - Sher,Carron, AU - Bistritzer,Tzvi, AU - Reisler,Gad, AU - Reish,Orit, PY - 2002/2/2/pubmed PY - 2002/7/18/medline PY - 2002/2/2/entrez SP - 105 EP - 7 JF - Journal of pediatric endocrinology & metabolism : JPEM JO - J. Pediatr. Endocrinol. Metab. VL - 15 IS - 1 N2 - We report a 1 year-old female patient with severe hypotonia who has congenital hypothyroidism and Prader-Willi syndrome (PWS). At birth she was found to have congenital hypothyroidism caused by an ectopic sublingual thyroid gland and was commenced on thyroid replacement therapy. She continued to have severe motor delay and therefore further diagnostic evaluation was performed. PWS was confirmed by DNA and fluorescence in situ hybridization (FISH) analysis. This report emphasizes the need to further investigate patients who are found to have congenital hypothyroidism and do not improve adequately on treatment. SN - 0334-018X UR - https://www.unboundmedicine.com/medline/citation/11822575/Congenital_hypothyroidism_with_Prader_Willi_syndrome_ L2 - https://www.degruyter.com/doi/10.1515/jpem.2002.15.1.105 DB - PRIME DP - Unbound Medicine ER -