Key result
Hemithyroidectomy in a 12-year-old boy with Carney complex revealed distinct intrathyroidal ectopic thymic tissue, a finding not previously reported in this syndrome.
Case Report (n=1)
This is the first report of ectopic intrathyroid thymic tissue in a patient with Carney complex, expanding the known developmental defects associated with PRKAR1A mutations.
Should not alter thyroid management in Carney complex; leaves open a novel PRKAR1A developmental association requiring confirmation.
Ectopic thymic tissue within the thyroid gland is rare. Patients with a complex of myxomas, spotty skin pigmentation, and endocrine overactivity, collectively known as Carney complex (CNC), have a predisposition towards the development of thyroid abnormalities, but there are no reports of thymic defects in CNC. We present the case of a 12-year-old boy with CNC and a growing thyroid nodule. The patient had the c.682 C > T (Arg228X) pathogenic PRKAR1A mutation. Hemithyroidectomy for a Hürthle cell adenoma led to the confirmation of distinct intrathyroidal ectopic thymic tissue. Thymic abnormalities have not been previously reported in CNC.
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Courcoutsakis et al. (2009) conducted a case report in Carney Complex (n=1). Hemithyroidectomy was evaluated on Histological and genetic diagnosis of the thyroid nodule. Hemithyroidectomy in a 12-year-old boy with Carney complex revealed distinct intrathyroidal ectopic thymic tissue, a finding not previously reported in this syndrome.
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