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Congenital hypothyroidism due to ectopic sublingual thyroid gland in Prader-Willi Syndrome: a case report.
Ital J Pediatr 2017; 43(1):87IJ

Abstract

BACKGROUND

Thyroid gland disorders are variably associated with Prader-Willi syndrome (PWS). Many of the clinical features in newborns with PWS are similar to those found in congenital hypothyroidism (CH).

CASE PRESENTATION

We report a case of a girl with CH and PWS. At the age of 9 months CH caused by an ectopic sublingual thyroid was diagnosed, and hormone replacement therapy was started. In spite of this treatment a decrease in growth velocity, weight excess and delayed development were observed. At the age of 9 years PWS was suspected on the basis of phenotype and genetic tests confirmed a maternal uniparental disomy of chromosome 15. This is the second reported case of hypothyroidism due to an ectopic sublingual thyroid gland in PWS suggesting that, although rare, an association between CH and PWS may exist. In our case diagnosis of PWS was delayed because mental retardation, hypotonia, obesity and short stature were initially attributed to hypothyroidism.

CONCLUSIONS

In this context PWS should be considered in obese children with CH who do not improve adequately with l-thyroxine therapy. Also, thyroid function in all PWS children should be assessed regularly in order to avoid delayed diagnosis of hypothyroidism.

Authors+Show Affiliations

Autoimmune Endocrine Diseases Unit, Bambino Gesù Children's Hospital, Research Institute, Palidoro, Rome, Italy.Endocrinology and Diabetology Unit, Bambino Gesù Children's Hospital, Research Institute, Palidoro, Rome, Italy.Division of Auxology, Italian Auxological Institute, Research Institute, Verbania, Piancavallo, Italy.Autoimmune Endocrine Diseases Unit, Bambino Gesù Children's Hospital, Research Institute, Palidoro, Rome, Italy.Autoimmune Endocrine Diseases Unit, Bambino Gesù Children's Hospital, Research Institute, Palidoro, Rome, Italy.Autoimmune Endocrine Diseases Unit, Bambino Gesù Children's Hospital, Research Institute, Palidoro, Rome, Italy. antonino.crino@opbg.net.

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

28938886

Citation

Bocchini, Sarah, et al. "Congenital Hypothyroidism Due to Ectopic Sublingual Thyroid Gland in Prader-Willi Syndrome: a Case Report." Italian Journal of Pediatrics, vol. 43, no. 1, 2017, p. 87.
Bocchini S, Fintini D, Grugni G, et al. Congenital hypothyroidism due to ectopic sublingual thyroid gland in Prader-Willi Syndrome: a case report. Ital J Pediatr. 2017;43(1):87.
Bocchini, S., Fintini, D., Grugni, G., Boiani, A., Convertino, A., & Crinò, A. (2017). Congenital hypothyroidism due to ectopic sublingual thyroid gland in Prader-Willi Syndrome: a case report. Italian Journal of Pediatrics, 43(1), p. 87. doi:10.1186/s13052-017-0403-7.
Bocchini S, et al. Congenital Hypothyroidism Due to Ectopic Sublingual Thyroid Gland in Prader-Willi Syndrome: a Case Report. Ital J Pediatr. 2017 Sep 22;43(1):87. PubMed PMID: 28938886.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Congenital hypothyroidism due to ectopic sublingual thyroid gland in Prader-Willi Syndrome: a case report. AU - Bocchini,Sarah, AU - Fintini,Danilo, AU - Grugni,Graziano, AU - Boiani,Arianna, AU - Convertino,Alessio, AU - Crinò,Antonino, Y1 - 2017/09/22/ PY - 2017/06/30/received PY - 2017/09/11/accepted PY - 2017/9/24/entrez PY - 2017/9/25/pubmed PY - 2018/7/17/medline KW - Hypothyroidism KW - Hypotonia KW - Obesity KW - Prader-Willi syndrome SP - 87 EP - 87 JF - Italian journal of pediatrics JO - Ital J Pediatr VL - 43 IS - 1 N2 - BACKGROUND: Thyroid gland disorders are variably associated with Prader-Willi syndrome (PWS). Many of the clinical features in newborns with PWS are similar to those found in congenital hypothyroidism (CH). CASE PRESENTATION: We report a case of a girl with CH and PWS. At the age of 9 months CH caused by an ectopic sublingual thyroid was diagnosed, and hormone replacement therapy was started. In spite of this treatment a decrease in growth velocity, weight excess and delayed development were observed. At the age of 9 years PWS was suspected on the basis of phenotype and genetic tests confirmed a maternal uniparental disomy of chromosome 15. This is the second reported case of hypothyroidism due to an ectopic sublingual thyroid gland in PWS suggesting that, although rare, an association between CH and PWS may exist. In our case diagnosis of PWS was delayed because mental retardation, hypotonia, obesity and short stature were initially attributed to hypothyroidism. CONCLUSIONS: In this context PWS should be considered in obese children with CH who do not improve adequately with l-thyroxine therapy. Also, thyroid function in all PWS children should be assessed regularly in order to avoid delayed diagnosis of hypothyroidism. SN - 1824-7288 UR - https://www.unboundmedicine.com/medline/citation/28938886/Congenital_hypothyroidism_due_to_ectopic_sublingual_thyroid_gland_in_Prader_Willi_Syndrome:_a_case_report_ L2 - https://ijponline.biomedcentral.com/articles/10.1186/s13052-017-0403-7 DB - PRIME DP - Unbound Medicine ER -