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Congenital hypothyroidism due to ectopic sublingual thyroid gland in Prader-Willi Syndrome: a case report
Sarah Bocchini1, Danilo Fintini2, Graziano Grugni3
1Autoimmune Endocrine Diseases Unit, Bambino Gesù Children's Hospital, Research Institute, Palidoro, Rome, Italy.
Insights
Prader-Willi syndrome (PWS) and congenital hypothyroidism (CH) can co-occur. Consider PWS in obese children with CH unresponsive to treatment, and screen all PWS patients for thyroid issues.
Area of Science:
- Pediatric Endocrinology
- Clinical Genetics
- Endocrine Disorders
Background:
- Thyroid disorders are known to be associated with Prader-Willi syndrome (PWS).
- Clinical manifestations in newborns with PWS can mimic those of congenital hypothyroidism (CH).
Observation:
- A case of a young girl with both CH and PWS is presented.
- CH, caused by an ectopic sublingual thyroid, was diagnosed at 9 months and treated with hormone replacement.
- Despite treatment, the patient exhibited poor growth, weight gain, and developmental delays.
- Prader-Willi syndrome was suspected at age 9 due to characteristic phenotype and confirmed by genetic testing (maternal uniparental disomy of chromosome 15).
- This is the second reported instance of hypothyroidism linked to an ectopic sublingual thyroid in PWS.
Findings:
- The diagnosis of PWS was delayed as symptoms like intellectual disability, hypotonia, obesity, and short stature were initially attributed solely to hypothyroidism.
- This case highlights a potential association between congenital hypothyroidism and Prader-Willi syndrome, though rare.
Implications:
- Prader-Willi syndrome should be investigated in obese children diagnosed with congenital hypothyroidism who show inadequate response to levothyroxine therapy.
- Regular thyroid function assessment in all children with PWS is crucial to prevent delayed diagnosis of hypothyroidism.
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.
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