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Archives of Endocrinology and Metabolism 2016Resistance to thyroid hormone (RTH) coexisting with ectopic thyroid is rare. Here we report a case of RTH with ectopic thyroid. A ten-year-old girl had been misdiagnosed...
Resistance to thyroid hormone (RTH) coexisting with ectopic thyroid is rare. Here we report a case of RTH with ectopic thyroid. A ten-year-old girl had been misdiagnosed as congenital hypothyroidism and treated with levothyroxine since she was born. Ten-year follow-up showed that the elevated thyrotropin was never suppressed by levothyroxine and no signs indicating hyperthyroidism or hypothyroidism despite elevated FT3 and FT4 levels. Therefore the girl developed no defects in physical and cognitive development. Pituitary adenoma was excluded by magnetic resonance imaging. Ultrasonography did not find the thyroid gland in the normal place, while the thyroid scan found a large lingual thyroid gland. The octreotide inhibition test showed a reduction in thyrotropin by 41.98%. No mutation was detected in the thyroid hormone receptor (THR) β, THRα, thyrotropin receptor (TSHR), and GNAS1 genes. To our knowledge, it is an interesting RTH case coexisting with lingual thyroid.
Topics: Child; Congenital Hypothyroidism; DNA; DNA Mutational Analysis; Diagnostic Errors; Female; Follow-Up Studies; Humans; Receptors, Thyroid Hormone; Thyroid Dysgenesis; Thyroid Hormone Resistance Syndrome; Thyrotropin; Thyroxine; Time Factors; Tongue Diseases
PubMed: 27737329
DOI: 10.1590/2359-3997000000214 -
Thyroid : Official Journal of the... May 2022Congenital hypothyroidism due to thyroid dysgenesis (CHTD) is a predominantly sporadic and nonsyndromic (NS) condition of unknown etiology. NS-CHTD shows a 40-fold...
Congenital hypothyroidism due to thyroid dysgenesis (CHTD) is a predominantly sporadic and nonsyndromic (NS) condition of unknown etiology. NS-CHTD shows a 40-fold increase in relative risk among first-degree relatives (1 in 100 compared with a birth prevalence of 1 in 4000 in the general population), but a discordance rate between monozygotic (MZ) twins of 92%. This suggests a two-hit mechanism, combining a genetic predisposition (incomplete penetrance of inherited variants) with postzygotic events (accounting for MZ twin discordance). To evaluate whether whole-exome sequencing (WES) allows to identify new predisposing genes in NS-CHTD. We performed a case-control study by comparing the whole exome of 36 nonconsanguineous cases of NS-CHTD (33 with lingual thyroid ectopy and 3 with athyreosis, based on technetium pertechnetate scintigraphy at diagnosis) with that of 301 unaffected controls to assess for enrichment in rare protein-altering variants. We performed an unbiased approach using a gene-based burden with a false discovery rate correction. Moreover, we identified all rare pathogenic and likely pathogenic variants, based on prediction tools, in 27 genes previously associated with congenital hypothyroidism (CH) (thyroid dysgenesis [TD] and dyshormonogenesis). After correction for multiple testing, no enrichment in rare protein-altering variants was observed in NS-CHTD. Pathogenic or likely pathogenic variants (21 variants in 12 CH genes) were identified in 42% of cases. Eight percent of cases had variants in more than one gene (oligogenic group); these were not more severely affected than monogenic cases. Moreover, cases with protein-altering variants in dyshormonogenesis-related genes were not more severely affected than those without. No new predisposing genes were identified following an unbiased analysis of WES data in a well-characterized NS-CHTD cohort. Nonetheless, the discovery rate of rare pathogenic or likely pathogenic variants was 42%. Eight percent of the cases harbored multiple variants in genes associated with TD or dyshormonogenesis, but these variants did not explain the variability of hypothyroidism observed in dysgenesis. WES did not identify a genetic cause in NS-CHTD cases, confirming the complex etiology of this disease. Additional studies in larger cohorts and/or novel discovery approaches are required.
Topics: Case-Control Studies; Congenital Hypothyroidism; Exome; Humans; Mutation; Thyroid Dysgenesis; Exome Sequencing
PubMed: 35272499
DOI: 10.1089/thy.2021.0597 -
JPMA. the Journal of the Pakistan... Feb 2020Ectopic lingual thyroid along with a normally located thyroid gland is an uncommon condition caused by an aberrant descent of thyroid during embryogenesis. It is more...
Ectopic lingual thyroid along with a normally located thyroid gland is an uncommon condition caused by an aberrant descent of thyroid during embryogenesis. It is more common among females and expresses during puberty, pregnancy and menopause. It is mostly associated with hypothyroidism. Patient usually presents with complaints of dysphagia, dysphonia and suffocation. Treatment of choice depends upon the primary complaint of the patient. We present the case of a young female who underwent tracheostomy to relieve respiratory tract obstruction during puberty and was later diagnosed as a case of ectopic lingual thyroid by radioactive iodine uptake and CT scan imaging. She had an associated hypothyroidism; patient was then put on thyroxine and after making her euthyroid she was operated by transoral route and her ectopic lingual thyroid was removed. She was discharged on a maintenance dose of thyroxin.
Topics: Adolescent; Airway Obstruction; Deglutition Disorders; Female; Humans; Hypothyroidism; Lingual Thyroid; Thyroid Dysgenesis; Thyroxine; Tomography, X-Ray Computed
PubMed: 32063634
DOI: 10.5455/JPMA.5118 -
Cureus Aug 2023The external carotid artery (ECA) anterior branches, including the superior thyroid, the lingual, and the facial artery (STA, LA, and FA) present variability among...
The external carotid artery (ECA) anterior branches, including the superior thyroid, the lingual, and the facial artery (STA, LA, and FA) present variability among cadaveric studies. These arteries may usually originate as isolated branches from the ECA anterior surface and atypically migrate proximally or distally and/or fused into trunks with the most common fusion that of the LA with the FA, into the linguofacial trunk (LFT), and the rarer ones those of the thyrolingual and thyrolinguofacial trunks. The current report describes a case of a bilateral fusion of the LA with the FA into an LFT and another case of a unilateral origin of the FA from the LA (aberrant FA). In a 75-year-old donated male cadaver, a bilateral symmetrical LFT coexisted with a right-sided STA origin from the ECA proximal origin, at the level of the common carotid artery (CCA) bifurcation. In an 82-year-old donated female cadaver, at the left side, the atypical origin of the FA from the LA proximal origin coexisted with a common trunk of the left CCA with the brachiocephalic artery, and an atypical origin of the STA from the CCA, 3.65 mm inferior to the CCA bifurcation. This report provides a detailed description of the abnormal origin of the ECA anterior branches, the potential fusion of these branches, their exact location, and the existence of an unusual origin proximal or distal to the CCA bifurcation. Aberrant origin and course remain important in surgical and interventional approaches. A thorough understanding of the typical and variable anatomy of the ECA anterior branches ensures safe and successful intervention. Careful preoperative staging and precise dissection are essential components of this process.
PubMed: 37719536
DOI: 10.7759/cureus.43495 -
International Journal of Surgery Case... 2011Lingual thyroid (LT) gland is a rare clinical entity which was found to occur due to the failure of the thyroid gland to descend to its normal cervical location during...
INTRODUCTION
Lingual thyroid (LT) gland is a rare clinical entity which was found to occur due to the failure of the thyroid gland to descend to its normal cervical location during embryogenesis. The presence of an ectopic thyroid gland located at the base of the tongue may present with symptoms like dysphagia, dysphonia, upper airway obstruction or even hemorrhage at any time from infancy through adulthood.
PRESENTATION OF CASE
We are presenting a case of 5-year-old girl who presented with lingual thyroid, treated with Suppression treatment followed by elective surgical resection.
DISCUSSION
Incidence of ectopic lingual thyroid gland is reported as 1:100,000. It is more common in females. Most of presentations due to oropharyngeal obstruction, including dysphagia, dyspnea and dysphonia. Investigations include thyroid function tests, neck US, Technetium scanning and C.T.
CONCLUSION
Lingual thyroid is a rare anomaly. Dysphagia and dysphonia are common presenting symptoms. Pathogenesis of this ectopic is unknown. Different types of surgical approaches have been described in the management.
PubMed: 22096763
DOI: 10.1016/j.ijscr.2011.10.004 -
Problemy Endokrinologii Feb 2022BACKGROUND: The frequency of ectopia of thyroid gland among all types of dysgenesis varies from 30 to 70%, its most common localization is the root of the tongue....
BACKGROUND
BACKGROUND: The frequency of ectopia of thyroid gland among all types of dysgenesis varies from 30 to 70%, its most common localization is the root of the tongue. Otorhinolaryngologists, oncologists, pediatricians can take lingual ectopia for hypertrophy of the lingual tonsil or fibroma of the tongue root, which leads to unreasonable surgical treatment. Thyroid scintigraphy plays a key role in the diagnosis of ectopia.
AIM
AIM: To assess the etiological structure of congenital hypothyroidism (CH) and demonstrate the clinical course in patients with ectopic thyroid tissue in the root of the tongue.
MATERIALS AND METHODS
MATERIALS AND METHODS: A group of patients with CH was examined. All patients underwent neck ultrasound and radionuclide imaging. The examination was carried out against the background of the abolition of hormone replacement therapy for 14 days or before its initiation. Patients with ectopia in the root of the tongue underwent videofibrolaryngoscopy. Some patients underwent a genetic study with using genes panel of a panel of candidate genes responsible for the development of CH using the NGS method. The molecular genetic study was conducted to some patients, next-generation sequencing with the genes panel.
RESULTS
RESULTS: The study included 73 patients with primary CH aged from 2 weeks to 17.3 years: 69 children were diagnosed based on the results of neonatal screening, 4 children with thyroid ectopia were first examined older than 6 years. The median age of patients at the time of the examination was 6.9 years [4.8; 10.0]. By data of ultrasound aplasia was diagnosed in 47.9% of patients, one child had hemiagenesis and ectopic thyroid tissue of various localization was detected in 26.0% of children. In 24.7% of children thyroid tissue was found in a typical location. Scintigraphy confirmed thyroid aplasia in 65.7% of children. Examination revealed various variants of ectopically located thyroid tissue in 31 children (42.4%): thyroid ectopia in the root of the tongue in 25 children (80.6%), ectopia in the sublingual region in 5 children (16.2%), double ectopia was detected in 1 child. The median level of TSH in newborns with ectopic thyroid gland was 124 IU/ml and was significantly lower than in children with aplasia — 219 IU/ml, p<0.05. On the other side the level of TG in children with ectopia was significantly higher than in children with aplasia — 37.12 ng/ml versus 0.82 ng/ml, p><0.05. CONCLUSION: Combination of two methods is the best diagnostic approach to determine the etiology of CH — ultrasound and scintigraphy studies compensates deficiencies of each other. Our study demonstrates the importance of scintigraphy in children with CH and patients with the formation of the root of the tongue and the anterior surface of the neck in order to avoid unnecessary removal of the thyroid gland. In case of confirmation of thyroid ectopia in the root of the tongue and in the absence of symptoms of obstruction or bleeding, it is recommended to refer the patient to an endocrinologist for conservative treatment. ><0.05. On the other side the level of TG in children with ectopia was significantly higher than in children with aplasia — 37.12 ng/ml versus 0.82 ng/ml, p< 0.05.
CONCLUSION
CONCLUSION: Combination of two methods is the best diagnostic approach to determine the etiology of CH — ultrasound and scintigraphy studies compensates deficiencies of each other. Our study demonstrates the importance of scintigraphy in children with CH and patients with the formation of the root of the tongue and the anterior surface of the neck in order to avoid unnecessary removal of the thyroid gland. In case of confirmation of thyroid ectopia in the root of the tongue and in the absence of symptoms of obstruction or bleeding, it is recommended to refer the patient to an endocrinologist for conservative treatment.
Topics: Child; Choristoma; Congenital Hypothyroidism; Humans; Infant, Newborn; Neonatal Screening; Radionuclide Imaging; Thyroid Dysgenesis; Tongue Diseases
PubMed: 35841171
DOI: 10.14341/probl12876 -
Cirugia Pediatrica : Organo Oficial de... Jan 2020The treatment of lingual thyroid is controversial and should be individualized. Options include hormonal replacement, surgery in the presence of bleeding and obstruction...
INTRODUCTION
The treatment of lingual thyroid is controversial and should be individualized. Options include hormonal replacement, surgery in the presence of bleeding and obstruction of the airway and the digestive tract, and radioisotope therapy.
CLINICAL CASE
8-year-old girl presenting with discomfort when swallowing. A pink, well-vascularized mass, not painful or ulcerated, protruding from the base of the tongue and virtually closing the whole oropharynx, was observed. Absence of thyroid tissue in its normal position was reported by the ultrasound department. Cervical computed axial tomography confirmed the diagnosis and the presence of pharyngeal obstruction. Thyroid hormone replacement was established. As a result of dysphagia symptom progression, surgery was indicated. Thyroid removal was performed by means of a cervicotomy, with re-implantation of thyroid tissue laminas. The postoperative course was uneventful and replacement treatment was maintained, with an excellent clinical status four years later.
Topics: Child; Deglutition Disorders; Disease Progression; Female; Hormone Replacement Therapy; Humans; Lingual Thyroid; Thyroid Hormones; Tomography, X-Ray Computed
PubMed: 32166925
DOI: No ID Found -
Surgical Case Reports Sep 2018Currently, there is no consensus regarding the optimal therapeutic strategy for the management of an ectopic lingual thyroid. A surgical approach is suggested when...
BACKGROUND
Currently, there is no consensus regarding the optimal therapeutic strategy for the management of an ectopic lingual thyroid. A surgical approach is suggested when airway obstructive symptoms cannot be tolerated at all, or when bleeding or malignancy occurs. However, for patients in whom ectopic thyroid is the only functioning thyroid tissue, complete surgical excision needs to be followed by lifelong hormone replacement therapy. We report the case of an infant with ectopic lingual thyroid obstructing the airway that was treated using our novel surgical procedure.
CASE PRESENTATION
A 10-day-old male infant presented with symptoms of airway obstruction and subclinical hypothyroidism. Imaging tests revealed an ectopic lingual thyroid and the absence of a normal pretracheal thyroid gland. We administered oral levothyroxine to lower his thyroid stimulating hormone (TSH) level and reduce the volume of the lingual mass; however, his airway symptoms did not improve. Subsequently, we performed a surgical intervention when he was 2 months old. We split the hyoid bone, and then suspended the lingual thyroid by suturing it to the hyoid bone to elevate the epiglottis. We confirmed the degree of suspension using intraoperative laryngo fiberscopy. After the surgery, the symptoms of airway obstruction were resolved and the patient was clinically euthyroid on low-dose oral levothyroxine.
CONCLUSIONS
Our laryngo fiberscopy-guided suspension procedure can be an effective surgical procedure for the treatment of ectopic thyroid. This relatively simple surgical procedure could completely preserve the patient's thyroid tissue and resolve airway obstruction.
PubMed: 30232582
DOI: 10.1186/s40792-018-0531-3 -
Case Reports in Dentistry 2016Lingual thyroid is defined as an ectopic thyroid gland tissue located in the midline of the tongue base and it is uncommonly observed in clinical practice and is rare in...
Lingual thyroid is defined as an ectopic thyroid gland tissue located in the midline of the tongue base and it is uncommonly observed in clinical practice and is rare in children. This paper describes the surgical treatment of ectopic thyroid at the base of the tongue in a child. The chief complaint of the 12-year-old, melanodermic female patient was the difficulty to swallow for 15 days. The intraoral physical examination barely showed a nodular lesion at tongue base. The CT scan showed a round, well defined hyperdense lesion of approximately 25.8 mm at its largest diameter, with infiltrative growth in the posterior region of the base of the tongue. The proposed treatment was complete resection of the lesion. The histopathological diagnosis was lingual thyroid. After the diagnosis was established, the patient was referred to an endocrinologist for exams and medical follow-up. Lingual thyroid is a rare condition and its diagnosis in children is even rarer. Its approach should be transdisciplinary and should take into consideration the hormonal aspects of the patient in addition to the clinical condition of the lesion. In the presented case, the removal of the alteration was performed via conservative surgical procedure followed by immediate referral of the patient to the endocrinologist for a follow-up.
PubMed: 27747110
DOI: 10.1155/2016/9174970 -
Clinical Case Reports Dec 2023Whenever an enlarging mass is seen in throat, possibility of lingual thyroid should be considered. Thyroid function test should be done whenever ectopic thyroid is...
KEY CLINICAL MESSAGE
Whenever an enlarging mass is seen in throat, possibility of lingual thyroid should be considered. Thyroid function test should be done whenever ectopic thyroid is detected. Imaging (ultrasonography or Tc-99m scintigraphy) is adequate for diagnosis. Conservative treatment with levothyroxine helps in reducing size of lingual thyroid.
ABSTRACT
Hashimoto thyroiditis in lingual thyroid results in enlargement of the thyroid gland and oropharyngeal symptoms. Suppression therapy with levothyroxine results in reduction in size of the gland. We present an interesting case of Hashimoto disease in an adolescent female presenting as oropharyngeal mass.
PubMed: 38033679
DOI: 10.1002/ccr3.8273