Ectopic thymus presenting as a thyroid nodule in a patient with the Carney complex.
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.
Courcoutsakis
Nickolas
N
Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.
Patronas
Nickolas
N
Filie
Armando C
AC
Carney
J Aidan
JA
Moraitis
Andreas
A
Stratakis
Constantine A
CA
D018249:Adenoma, Oxyphilic / Q000473:pathology; D002648:Child; D002828:Choristoma / Q000473:pathology*; D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit / Q000235:genetics; D004247:DNA / Q000096:biosynthesis / Q000235:genetics; D003937:Diagnosis, Differential; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007911:Lentigo / Q000150:complications / Q000473:pathology*; D008297:Male; D009377:Multiple Endocrine Neoplasia / Q000150:complications / Q000473:pathology*; D010859:Pigmentation Disorders / Q000150:complications / Q000473:pathology*; D013577:Syndrome; D013950:Thymus Gland / Q000473:pathology*; D016606:Thyroid Nodule / Q000473:pathology*; D013965:Thyroidectomy
D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; C517834:PRKAR1A protein, human; D004247:DNA