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Review
. 2017 Sep 22;43(1):87.
doi: 10.1186/s13052-017-0403-7.

Congenital hypothyroidism due to ectopic sublingual thyroid gland in Prader-Willi Syndrome: a case report

Sarah Bocchini  1 , Danilo Fintini  2 , Graziano Grugni  3 , Arianna Boiani  1 , Alessio Convertino  1 , Antonino Crinò  4
Affiliations
Review

Congenital hypothyroidism due to ectopic sublingual thyroid gland in Prader-Willi Syndrome: a case report

Sarah Bocchini et al. Ital J Pediatr. .

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.

Keywords: Hypothyroidism; Hypotonia; Obesity; Prader-Willi syndrome.

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Conflict of interest statement

Ethics approval and consent to participate

The study has been approved by the authors’ institutional Ethical Research Committee. Both the patient and her legal guardian have given their written informed consent to participate.

Consent for publication

Written informed consent was obtained from the patient and her parent for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.

Competing interests

The authors declare that they have no competing interests in the manuscript.

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Figures

Fig. 1
Fig. 1
Ultrasonography of the neck showed absence of thyroid tissue
Fig. 2
Fig. 2
99mTc-pertechnetate thyroid scintigraphy showed a small, ectopic, sublingual thyroid gland (black arrow)
See this image and copyright information in PMC

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