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      Concurrent intrathyroidal thymus and parathyroid in a patient with papillary thyroid carcinoma: a challenging diagnosis

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          Abstract

          During embryogenesis, the thymus and inferior parathyroid glands develop from the third pharyngeal pouch and migrate to their definite position. During this process, several anatomic variations may arise, with the thyroid being one of the most common sites of ectopic implantation for both organs. Here, we report the case of a young female patient, who underwent total thyroidectomy for papillary carcinoma of the thyroid. The patient’s history was remarkable for disorders of the genitourinary system. Histologic examination revealed the presence of well-differentiated intrathyroidal thymic tissue, containing an inferior parathyroid gland. While each individual entity has been well documented, this is one of the few reports in which concurrent presentation is reported. Given the fact that both the thymus and the inferior parathyroid are derivatives of the same embryonic structure (i.e. the third pharyngeal pouch), it is speculated that the present condition resulted from a failure in separation and migration during organogenesis.

          Learning points:
          • Intrathyroidal thymus and parathyroid are commonly found individually, but rarely concurrently.

          • It is a benign and asymptomatic condition.

          • Differential diagnosis during routine workup with imaging modalities can be challenging.

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          Most cited references15

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          Incidence and location of ectopic abnormal parathyroid glands.

          Ectopic parathyroid glands are a cause for failed parathyroid exploration. Patients with hyperparathyroidism and ectopic parathyroid glands were identified from a parathyroid database. Laboratory data, gland weights, and surgical outcomes were obtained. The locations of the ectopic glands were correlated with results of technetium-99m-sestamibi imaging. Of 231 patients operated on for hyperparathyroidism, 37 (16%) had ectopic parathyroid glands. Ectopic inferior glands (N = 23 [62%]) were intrathymic, n = 7 (30%); anterosuperior mediastinal, n = 5 (22%); intrathyroidal, n = 5 (22%); within the thyrothymic ligament, n = 4 (17%); and submandibular, n = 2 (9%). Ectopic superior glands (N = 14 [38%]) were in the tracheoesophageal groove, n = 6 (43%); retroesophageal, n = 3 (22%); posterosuperior mediastinal, n = 2 (14%); intrathyroidal, n = 1 (7%); in the carotid sheath, n = 1 (7%); and paraesophageal, n = 1 (7%). Sestamibi scans were true-positive in 81%, identifying 13 of 16 retrosternal glands, and false-negative in 19%. A 16% incidence of ectopic parathyroid glands and a 100% positive predictive value of sestamibi scintigraphy underscore the importance of sestamibi imaging in patients with primary hyperparathyroidism.
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            Gcm2 and Foxn1 mark early parathyroid- and thymus-specific domains in the developing third pharyngeal pouch.

            The thymus and parathyroids originate from a common primordium that develops from the third pharyngeal pouch in mice and humans. The molecular mechanism that specifies this primordium into distinct organ domains is not known. The Gcm2 and Foxn1 transcription factors are required for development of the parathyroid and thymus respectively, and are attractive candidates for this role. However, their embryonic expression patterns during pharyngeal pouch development and early thymus and parathyroid organogenesis have not been described. Here we report that Gcm2 is expressed specifically in the developing second and third pharyngeal pouches at E9.5, and is further confined to a small domain of the third pouch endoderm by E10.5. In contrast, Foxn1 is not expressed until after the common primordium is formed, beginning at E11.25. Our results show that Gcm2 and Foxn1 expression mark two complementary domains that prefigure parathyroid and thymus regions within the common primordium before morphological distinctions are present.
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              Dynamics of thymus organogenesis and colonization in early human development

              The thymus is the central site of T-cell development and thus is of fundamental importance to the immune system, but little information exists regarding molecular regulation of thymus development in humans. Here we demonstrate, via spatial and temporal expression analyses, that the genetic mechanisms known to regulate mouse thymus organogenesis are conserved in humans. In addition, we provide molecular evidence that the human thymic epithelium derives solely from the third pharyngeal pouch, as in the mouse, in contrast to previous suggestions. Finally, we define the timing of onset of hematopoietic cell colonization and epithelial cell differentiation in the human thymic primordium, showing, unexpectedly, that the first colonizing hematopoietic cells are CD45+CD34int/-. Collectively, our data provide essential information for translation of principles established in the mouse to the human, and are of particular relevance to development of improved strategies for enhancing immune reconstitution in patients.

                Author and article information

                Journal
                Endocrinol Diabetes Metab Case Rep
                Endocrinol Diabetes Metab Case Rep
                EDM
                Endocrinology, Diabetes & Metabolism Case Reports
                Bioscientifica Ltd (Bristol )
                2052-0573
                23 June 2017
                2017
                : 2017
                : 17-0015
                Affiliations
                [1 ]Departments of Surgery
                [2 ]Departments of Pathology , Sismanoglion Hospital, AmarousionGreece
                Author notes
                Correspondence should be addressed to S Apostolakis; Email: sotapostolakis@ 123456gmail.com
                Article
                EDM170015
                10.1530/EDM-17-0015
                5488325
                0eab9e79-601d-42f6-ae22-5b570ef89b8d
                © 2017 The authors

                This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License.

                History
                : 6 May 2017
                : 1 June 2017
                Categories
                New Disease or Syndrome: Presentations/Diagnosis/Management

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