Thyroid hemiagenesis with compensatory hypertrophy of the remaining lobe: A case report.

Thyroid hemiagenesis is defined as a failure of one thyroid lobe development. This condition predominantly manifests as an incidental finding during radiological investigation. This paper repor ts the case o f a 53-year-ol d female, a known case of hypertension, who visited the ENT clinic at AKU, a ter tiary ca re centre in Karachi, Pak istan and was hospi talized from 12 th to 1 5th Septembe r 202 1. The patient presented with hemiagenesis of the right thyroid lobe with enlargement of the contralateral lobe resulting in airway compression. She was subjected to excision of the thyroid gland without any intra-operative or postoperative com plicati ons. There were n o complaints o f dyspnoea, stridor or hoarseness during the hospital stay. The patient was discharged and was found to be well on subsequent follow-ups.

Rare Coexistence of Aldosterone-producing Adrenocortical Adenoma Confirmed by an Immunohistochemical Analysis of Steroidogenic Enzymes with Adrenal Ectopic Thyroid Tissue: A Case Report and Literature Review.

A 56-year-old man presented with a history of hypertension; clinically, the patient had primary aldosteronism (PA) and a 4-cm left adrenal tumor. The left adrenal glands, resected by adrenalectomy, also contained ectopic thyroid tissue (ETT). An immunohistochemical analysis of steroid-converting enzymes revealed an aldosterone-producing adenoma (APA). Among 19 previously reported cases of adrenal ETT, 4 had adrenal hormonal abnormalities, all of which were PA. This is the first case of adrenal ETT coexisting with APA, confirmed by steroid-converting enzyme expression. Further analyses using cumulative case data are required to clarify the correlation between adrenal ETT and APA.

Two Cases of Congenital Hypothyroidism Revealing Thyroid Agenesis.

Congenital hypothyroidism (CH) may have major detrimental effects on growth and neurological development, but early intervention leads to excellent outcomes. CH is classified as transient or permanent, primary or secondary, with primary CH being the most common neonatal endocrine disorder. Most patients with CH do not present any typical signs and symptoms of hypothyroidism shortly after birth, partly due to transplacental maternal thyroid hormone transfer and residual neonatal thyroid function. This paper reports on two CH cases. During the initial Neonatal Intensive Care Unit (NICU) admission phase, CH was not suspected due to nonspecific signs. The distinct characteristics of our cases are as follows: both infants were admitted to the NICU for respiratory distress syndrome, requiring invasive mechanical ventilation, and both were born to diabetic mothers. Following extubation, they both showed similar neurological issues, including reduced muscle tone and feeding difficulties. Initially, those symptoms were attributed to delayed clearance of analgesic and sedative medication. However, symptoms progressively worsened over time. Subsequent tests revealed both meeting CH diagnostic criteria: an unusual ultrasound indicating thyroid agenesis and abnormal hormone levels. Guided by the pediatric endocrinology team, prompt hormonal treatment was started with improvements in neurocognitive function and feeding. Usually, CH screening involves blood samples from healthy newborns at 2-3 days of life. Abnormal results require confirmation, prompting treatment within two weeks. Certain NICU-admitted infants face higher diagnosis delays, as seen in those two cases where CH screening was postponed. Thus, for all neonates with persistent pathologies unresponsive to standard etiological treatment, conducting a comprehensive anamnestic evaluation of the medical history, along with maternal preconceptional and prenatal nutrition, is recommended.

Approach to the Patient With Congenital Hypothyroidism.

Congenital hypothyroidism (CH) is the most frequent neonatal endocrine disorder and the most common preventable cause of development delay and growth failure if diagnosed and treated early. The thyroid is the first endocrine gland to develop during embryonic life and to be recognizable in humans. Thyroid development and maturation can be divided into 2 phases: a first phase of embryogenesis and a second phase of folliculogenesis and differentiation with thyroid hormone production at the final steps. Regulation of the thyroid function requires normal development of the hypothalamic-pituitary-thyroid axis, which occurs during the embryonic and neonatal period. Defects in any of steps of thyroid development, differentiation, and regulation lead to permanent CH. Newborn screening programs, established in only one-third of countries worldwide, detect CH and are cost-effective and highly sensitive and specific. During the last decade, epidemiology of CH has changed with increased frequency of thyroid in situ in primary CH. Advances in molecular testing have expanded knowledge and understanding of thyroid development and function. However, a molecular cause is identified in only 5% of CH due to thyroid dysgenesis. The purpose of this article is to describe the clinical approach to the child with CH, focusing on diagnostic work-up and future challenges on optimizing thyroid replacement therapy and regenerative medicine. The review is written from the perspective of the case of 2 girls referred for CH after newborn screening and diagnosed with thyroid ectopy. The genetic work-up revealed novel mutations in TUBB1 gene, associated with large platelets and abnormal platelet physiology.

Concurrence of Thyrolipomatosis with Hyperthyroidism and Ectopic Thyroid Tissue.

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[Ectopic thyroid gland: clinical features and diagnostics in children].

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: 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: 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: 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: 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.

Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis.

Context: 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). Objective: To evaluate whether whole-exome sequencing (WES) allows to identify new predisposing genes in NS-CHTD. Methods: 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 in silico prediction tools, in 27 genes previously associated with congenital hypothyroidism (CH) (thyroid dysgenesis [TD] and dyshormonogenesis). Results: 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. Conclusions: 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.

Tiroides Ectópica Lingual: caso Clínico / Lingual Ectopic Thyroid: a clinical case

La tiroides ectópica lingual es una patología muy poco frecuente, producida por la detención en el descenso normal de la glándula durante el desarrollo embrio-nario. La localización lingual de tejido tiroideo es la más común entre las tiroides ectópicas o aberrantes. Esta enfermedad puede ser asintomática pero, cuan-do los signos y síntomas están presentes, guardan estrecha correlación con la localización de la lesión y son proporcionales a su tamaño. El diagnóstico debe realizarse clínicamente y con el complemento de es-tudios por imágenes y endocrinológicos. En los aná-lisis de laboratorio se debe incluir dosaje de las hor-monas TSH, T4 libre y T3, vinculadas con la función tiroidea. Las biopsias deben evitarse ya que causan desequilibrio en la producción hormonal de la glándu-la y peligro de profusas hemorragias. En este artículo se desarrolla una descripción de las generalidades de la tiroides ectópica lingual, y se presenta un caso clínico de un niño con un tumor lingual, que fue deri-vado por su médica pediatra a cirugía para realizar una biopsia. Asimismo, se comenta la importancia que tiene para el odontólogo conocer esta patología a fin de poder evitar sus posibles complicaciones (AU)

Lingual thyroid is a rare disorder produced by a failure in the descent of thyroid gland to its normal position during embryological development. Lingual localization of thyroid tissue is the most common among the ectopic or aberrant thyroids. This condition can be asymptomatic, although when symptoms take place, they are connected to the lesion location and depend on its size. Diagnosis should be made clinically and complemented with imaging and endocrine studies. Laboratory analysis must include dosage of TSH, free T4 and T3, thyroid function-linked hormones. Due to the possible imbalance in the gland hormone production and the risk of massive bleeding, biopsy should be avoided. In this article, a brief description of lingual ectopic thyroid generalities is developed and a clinical case of a 7-years old child is provided. Additionally, dentistry importance of knowing this condition is commented, in order to prevent its possible complications (AU)

Ectopic thyroid gland located on the L4 vertebral body: A case report.

RATIONALE: The prevalence of ectopic thyroid is extremely low, with the condition observed in approximately 1 in 100,000 to 300,000 people. Thyroid gland ectopia develops as a result of the presence of developmental abnormalities during the migration of the thyroid anlage from the floor of the primitive foregut to its final position in the neck. Ectopic thyroid tissue is commonly observed in the lingual region, but can also present in other head and neck regions, as well as regions located at a large distance from the neck. PATIENT CONCERNS: A 67-year-old woman who had experienced left lumbago and leg pain was transferred to our hospital following the worsening of her lumbago-related symptoms in the 2 months preceding her presentation. Seven years ago, the patient had recurrent lumbago and leg pain without obvious inducement, and visited a local clinic for treatment. The severity of her symptoms fluctuated; their intensity increased after participation in activities and decreased after rest. DIAGNOSES: The patient was diagnosed as having an ectopic thyroid gland that was located on the L4 vertebral body. INTERVENTIONS: The patient chose to undergo surgery, with supportive care, following tumor discovery. OUTCOMES: After surgical treatment, the degree of lumbar spinal stenosis improved, and the patient's clinical symptoms were alleviated. LESSONS: Clinically, ectopic goiter is diagnosed through radionuclide thyroid imaging, ultrasound examination, computed tomography, magnetic resonance imaging, and biopsy pathology. However, the imaging manifestations in this case were atypical, leading to greater diagnostic difficulties. A conclusion was finally reached based on pathology.

A case report of coexistence of ectopic lingual thyroid with hypoplastic normal thyroid gland.

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.

Lateral ectopic thyroid mimics carotid body tumor on Indium-111 pentetreotide scintigraphy.

A 34-year old woman with past history of anxiety, depression, and hypothyroidism resulting from prior total thyroidectomy for multinodular goiter presented with complaints of palpitations, sweating, and tachycardia. Clinical examination revealed a painless right lateral neck mass. USG/CT of the neck revealed the soft tissue mass located at the right carotid bifurcation. A subsequent Indium-111 pentetreotide somatostatin receptor scintigraphy (SRS) demonstrated tracer uptake in the mass. Hence, secretory carotid body tumor/paraganglioma was strongly suspected. However, post-surgical histopathological specimen revealed only benign thyroid follicles indicative of lateral ectopic thyroid with no evidence of neuroendocrine cells or malignancy. This case highlights the importance of considering lateral ectopic thyroid, a very rare entity, in the differential diagnosis for carotid bifurcation masses. Also highlighted is the false positivity from normal but ectopic thyroid tissue on Indium-111 pentetreotide SRS mimicking a paraganglioma.

Thyroid hemiagenesis is combined with a variety of thyroid disorders.

AIM: Thyroid hemiagenesis (TH) is a rare congenital anomaly in which one thyroid lobe fails to develop. We describe our experience with at least 13 patients presenting with TH at our department. METHODS: We retrospectively analysed patients with TH, who had been referred primarily to our clinic between 2004 and 2010. In patients with TH, thyroid function parameters and thyroid autoantibodies were examined. 99mTc-pertechnetate thyroid scintigraphy and sonography were performed in all patients and confirmed the diagnosis of TH. RESULTS: We identified 13 patients (11 women, 2 men) with TH in our patient collective and calculated an estimated prevalence of TH of 0.08 %.We found TH to occur more frequently in the left lobe and also more frequently in females than in males. 9 patients presented with a total absence of one thyroid lobe and 4 patients presented with severe hypoplasia of one thyroid lobe with an isthmus appearing as a "hockey stick sign" on scintigraphic imaging. Associated thyroid diseases could be observed in the remaining lobe in all patients and included hyperthyroidism, hypothyroidism, nodular goiter, toxic goiter, hypofunctioning nodules, Graves' disease and Hashimoto-thyroiditis. The most frequent thyroid disease in our patients with TH was nodular goiter. We did not find any association of TH with malignancy. CONCLUSION: TH is mostly detected incidentally as the prevalence of TH is extraordinary low. The fact that all of our patients with TH were also affected by other forms of thyroid disease is reasonable since the patients were not referred to the diagnostic centre due to TH but rather due to the associated thyroid disease. Possibly there are different groups of TH: the symptomatic hypothyroid children, the lifelong euthyroid adults who are diagnosed incidentally through another thyroid disease and the patients with a molecular failure of proper thyroid development.

A case report of 131I therapy for Graves' disease patient with hemiagenesis.

RATIONALE: Thyroid hemiagenesis is a rare congenital dysplasia, whereas a variety of pathological changes may occur in residual thyroid lobe. The most frequently described pathology in residual thyroid lobe is Graves' hyperthyroidism. Although I therapy has been generally recommended as the preferred treatment for Graves' disease (GD), subjects relating to hemiagenesis are very limited, especially in China. PATIENT CONCERNS: A 43-year-old female patient presented to our hospital on November 2014, with a 1-year history of palpitation, fatigue, and hand tremor. Her situation was getting worse within 2 months. DIAGNOSIS: The thyroid function tests were suggestive of thyrotoxicosis. The technetium thyroid scintigraphy only showed an enlarged right lobe with increased tracer uptake. Then, the agenesis of left lobe and isthmus was confirmed by ultrasound and magnetic resonance imaging (MRI). Thus, a diagnosis of GD with hemiageneis of the left lobe and isthmus of thyroid was made. INTERVENTIONS: Thiamazole was discontinued because of drug-induced hepatic injury. According to our procedures, the patient was treated by I. OUTCOMES: Hypothyroidism was observed 3 months after I therapy. After replacement therapy with L-thyroxine (LT4), the state of euthyroid maintained. LESSONS: Once hypothyroidism occurs, regular application of LT4 and review of thyroid function is very important. Thus, patients' compliance needs to be strengthened. Besides, we could not convince the family members of our patient to undergo ultrasonographic examination. The genetic factor of the agenesis could not be proved in this case.

Sonographic diagnosis of coexisting ectopic thyroid and fourth branchial cleft cyst.

Ectopic thyroid and fourth branchial cleft anomaly are rare congenital anomalies of the neck. This is a case report of the coexistence of these two rare congenital anomalies in a 1-year-old girl. She had ectopic lingual thyroid and asymptomatic abscess in the fourth branchial cleft cyst, which was found in ultrasonography carried out to evaluate congenital hypothyroidism. To the best of our knowledge, this is the first reported case of ectopic thyroid coexisting with fourth branchial cleft anomaly in the same patient.

Mutation screening in the genes PAX-8, NKX2-5, TSH-R, HES-1 in cohort of 63 Brazilian children with thyroid dysgenesis.

OBJECTIVE: To evaluate the candidate genes PAX-8, NKX2-5, TSH-R and HES-1 in 63 confirmed cases of thyroid dysgenesis. SUBJECTS AND METHODS: Characterization of patients with congenital hypothyroidism into specific subtypes of thyroid dysgenesis with hormone levels (TT4 and TSH), thyroid ultrasound and scintigraphy. DNA was extracted from peripheral blood leukocytes and the genetic analysis was realized by investigating the presence of mutations in the transcription factor genes involved in thyroid development. RESULTS: No mutations were detected in any of the candidate genes. In situ thyroid gland represented 71.1% of all cases of permanent primary congenital hypothyroidism, followed by hypoplasia (9.6%), ectopia (78%), hemiagenesis (6.0%) and agenesis (5.5%). The highest neonatal screening TSH levels were in the agenesis group (p < 0.001). CONCLUSIONS: Thyroid dysgenesis is possibly a polygenic disorder and epigenetic factors could to be implicated in these pathogeneses.

Permanent vs Transient Congenital Hypothyroidism: Assessment of Predictive Variables.

Objective: To assess clinical variables, including early thyroid scintigraphy, in predicting the outcome (permanent vs transient) in term infants with congenital hypothyroidism (CH). Methods: In a retrospective study, 142 full-term infants with CH diagnosed between 2000 and 2012 were categorized into three groups: agenesis/ectopic thyroid and permanent CH; eutopic thyroid and permanent CH; and eutopic thyroid and transient CH. All underwent early thyroid scintigraphy and were under regular follow-up in our tertiary Pediatric Endocrine Institute. Results: Thyroid scan showed agenesis/ectopic thyroid in 58 (41%) and eutopic thyroid in 84 (59%) infants. Imaging findings were similar in eutopic-permanent and eutopic-transient groups. At initial evaluation, TSH levels were higher in the agenesis/ectopic group than in the eutopic-permanent and eutopic-transient groups (71.5 ± 11.2 mIU/L vs 49.1 ± 27.9 mIU/L and 42.5 ± 29.1 mIU/L, respectively; P < 0.001). Higher l-T4 doses were required from the third month in the agenesis/ectopic than in the eutopic-permanent group (P < 0.001) and from the sixth month in the eutopic-permanent than in the eutopic-transient group (P < 0.01). Initial TSH >63.5 mU/L (P < 0.001) and l-T4 dose >4.6 µg/kg/d at age >6 months (P < 0.001) were found to be predictors for an agenesis/ectopic gland using receiver operating characteristic analysis, as was an l-T4 dose >2.2 µg/kg/d at age >6 months (P < 0.01) for permanent CH in patients with a eutopic gland. Conclusions: Although early thyroid scintigraphy is reliable in predicting permanent CH when detecting agenesis or ectopic gland, it cannot differentiate between permanent and transient CH in cases with a eutopic thyroid. Confirmatory TSH at diagnosis and the l-T4 dose through treatment may better distinguish between permanent and transient CH.

Congenital Hypothyroidism.

Congenital hypothyroidism is common and can cause severe neurodevelopmental morbidity. Prompt diagnosis and treatment are critical to optimizing long-term outcomes. Universal newborn screening is an important tool for detecting congenital hypothyroidism, but awareness of its limitations, repeated screening in high-risk infants, and a high index of clinical suspicion are needed to ensure that all affected infants are appropriately identified and treated. Careful evaluation will usually reveal the etiology of congenital hypothyroidism, which may inform treatment and prognosis. Early and adequate treatment with levothyroxine results in excellent neurodevelopmental outcomes for most patients with congenital hypothyroidism.

Hybrid SPECT/CT Helps Characterization and Localization of a Dual Thyroid Ectopia.

The presence of ectopic thyroid tissue in 2 or more different sites is rare. A 12-year-old girl presented with midline anterior neck swelling in the infrahyoid region with subclinical hypothyroidism. Thyroid scanning with Tc-pertechnetate was performed, and SPECT/CT was ordered for further evaluation. Two hyperdense lesions demonstrating intense radiotracer uptake were seen in the midline at the base of the tongue and infrahyoid neck. We emphasis the role of hybrid SPECT/CT for characterization and localization of suspected ectopic thyroid tissue.