TL;DR: Current understanding about the wide clinical spectrum of ectopic thyroid tissue is provided, also referring to optimal diagnostic approach, differential diagnosis, and management strategies.
Abstract: Ectopic thyroid tissue is a rare entity resulting from developmental defects at early stages of thyroid gland embryogenesis, during its passage from the floor of the primitive foregut to its final pre-tracheal position. It is frequently found around the course of the thyroglossal duct or laterally in the neck, as well as in distant places such as the mediastinum and the subdiaphragmatic organs. Although most cases are asymptomatic, symptoms related to tumor size and its relationship with surrounding tissues may also appear. Any disease affecting the thyroid gland may also involve the ectopic thyroid, including malignancy. The clinician must distinguish between ectopic thyroid and metastatic deposits emerging from an orthotopic gland, as well as other benign or malignant masses. Thyroid scintigraphy plays the most important role in diagnosing ectopy, but ultrasonography contributes as well. In cases of symptomatic disease, surgery is the treatment of choice, followed by radioiodine ablation and levothyroxine suppression therapy in more refractory cases. This review provides current understanding about the wide clinical spectrum of this rare condition, also referring to optimal diagnostic approach, differential diagnosis, and management strategies.
TL;DR: Primary hyperparathyroidism: pathophysiology and surgical indications, work-up * Preoperative localization tests-US and Sesimibi * Surgical management of primary hyperparathiroidism (including asymptomatic and normocalcemic hyperparathroidism)
Abstract: * History, evolution and classification of thyroid and parathyroid surgery * Applied embryology of the thyroid and parathyroid glands * Understanding thyroid physiology and thyroid function tests * Thyroiditis * Hyperthyroidism: toxic multinodular goiter and Grave's disease * Ectopic Thyroid and Thyroglossal Duct Cysts * Treatment of cervical and substernal goiter (+DVD) * Mediastinal access: transcervical, video-assisted, and transsternal * Surgery for Hyperthyroidism (Graves and toxic MNG) * Reoperation for benign thyroid disease * Evaluation and non-surgical management of the thyroid nodule * Thyroid Cytopathology (+DVD) * Thyroid and parathyroid Ultrasound (+DVD) * Preoperative evaluation of lymph nodes in papillary carcinoma * Preoperative Laryngeal exam and Voice (+DVD) * Laser , Thermal and RF treatment of thyroid nodules and parathyroid adenoma * Molecular Pathogenesis of Thyroid Neoplasia * Papillary carcinoma of the thyroid * Papillary microcarcinoma * Follicular carcinoma of the thyroid * Dynamic Risk group analysis * Hurthle cell carcinoma * Medullary carcinoma of the thyroid: Sporadic * Medullary carcinoma: MEN syndromes * Medullary carcinoma of the thyroid: Microcarcinoma * Anaplastic carcinoma and Lymphoma * Pediatric thyroid carcinoma * Chernobyl and radiation induced thyroid cancer * Familial papillary carcinoma * Standard unilateral and bilateral thyroid surgery (+DVD) * Minimally invasive thyroid surgery (+DVD) * Surgical anatomy of the superior laryngeal nerve (+DVD) * Surgical anatomy and monitoring of the recurrent laryngeal nerve (with color plate) (+DVD) * Surgery for locally advanced thyroid cancer: Larynx * Surgery for locally advanced thyroid cancer surgery: Trachea (+DVD) * Extracervical approaches to the thyroid * Central neck dissection: indications * Central neck dissection: technique (+DVD) * Lateral neck dissection: indications * Lateral neck dissection: technique (+DVD) * Transoral approach for retropharyngeal nodes * Incisions of the neck surgery * New technology in thyroid surgery * Pathology of the thyroid gland * Pathophysiology of RLN paralysis * Management of RLN paralysis, and repair * Non-neural complications * Endocrine surgical outcomes: Quality Registers * Medical malpractice and Ethics:considerations in thyroid and parathyroid surgery * Postoperative management of differentiated thyroid cancer * Radioactive iodine scanning: ablation and treatment * External beam radiation therapy for thyroid malignancy * Reoperative surgery for thyroid cancer * Alcohol ablation for recurrent papillary nodes * Medical treatment horizons for metastatic thyroid cancer * Primary hyperparathyroidism: pathophysiology and surgical indications, work-up * Preoperative localization tests-US and Sesimibi * Surgical management of primary hyperparathyroidism (including asymptomatic and normocalcemic hyperparathyroidism) * Standard Bilat Parathyroid Exploration * Focused Single gland parathyroid exploration * Minimally invasive video assisted parathyroid surgery * Parathyroid surgery with local anesthesia * Intraoperative PTH * Radio guided parathyroid surgery * Surgical management of multigland disease * Surgical management of secondary and tertiary hyperparathyroidism * MEN syndromes: parathyroid management * Revision parathyroid surgery * Parathyroid carcinoma * Surgical pathology of the parathyroid glands
TL;DR: It is concluded that different genetic and nongenetic mechanisms for athyreosis and ectopic thyroid are likely, and that these two distinct entities are themselves heterogeneous.
Abstract: Loss-of-function mutations in the TSH receptor gene (TSH-R), usually leading to asymptomatic hyperthyrotropinemia, have been reported since 1995 in a total of eight pedigrees, with a pattern of transmission suggesting autosomal recessive inheritance. Although normal TSH secretion and action are not necessary for normal migration of the thyroid analage, they are essential for normal thyroid growth and function. In keeping with this concept, we report a severely hypothyroid boy with a normally located but very hypoplastic and hypofunctional thyroid caused by TSH-R loss-of-function mutations. The propositus' maternal great aunt also had apparent athyreosis. The propositus had undetectable uptake on 99mpertechnetate scintigraphy but normal plasma thyroglobulin at 15 days of age. He was found to be a compound heterozygote for TSH-R mutations, with the maternal allele carrying a splicing mutation (G to C transversion at position +3 of the donor site of intron 6) and the other allele a deletion of two nucleotides (2 bases of codon 655 in exon 10). The great aunt's TSH-R was normal. We also report the sex ratio of hypothyroid newborns referred to our center since 1989 with apparent athyreosis (5 girls, 7 boys) and with ectopic thyroid tissue (41 girls, 15 boys). We conclude that different genetic and nongenetic mechanisms for athyreosis and ectopic thyroid are likely, and that these two distinct entities are themselves heterogeneous. Our results further show that inactivating mutations in TSH-R may account for some cases of apparent congenital athyreosis and should be suspected, especially if plasma thyroglobulin levels are normal.
TL;DR: The study suggests that radionuclide thyroid scanning and function testing may be useful not only for the diagnosis of an ectopic thyroid but also before deciding on the therapeutic modality; patients should be followed up to detect changes in thyroid function and malignant transformation.
Abstract: Background: Ectopic thyroid is a rare entity and can occur at any location in the midline position. A role for the ectopic thyroid in the pathogenesis of hypothyroidism and nongoitrous cretinism ha...