Colloid nodular goitre associated with hemiagenesis of the thyroid gland.

Hemiagenesis of the thyroid gland is a rare congenital abnormality usually left unnoticed without associated thyroid disorders. The most common congenital anomaly of the thyroid gland is a thyroglossal cyst, followed by ectopic thyroid tissue and thyroid dysgenesis, which may be agenesis or hemiagenesis. Preoperative underevaluation of the thyroid hemiagenesis (THA) associated with other thyroid disorders may cause intraoperative difficulty in identifying the gland and difficulty in preservation or even identification of major neurovascular structures during neck exploration. We report a patient who presented to us with right-sided neck swelling. On further evaluation and neck exploration, the patient was diagnosed with THA of the left lobe with right colloid goitre.

Follicular adenoma with a papillary architecture originating from an ectopic thyroid gland: a case report.

BACKGROUND: Follicular adenomas with papillary architecture are rare tumors of thyroid origin and are composed of completely encapsulated follicular cells with a papillary architecture lacking the nuclear characteristics of papillary carcinoma. Herein, we present a case of follicular adenoma with papillary architecture originating from an ectopic thyroid gland, diagnosed from a mass in the submandibular region. CASE PRESENTATION: A 70-year-old woman was referred to our hospital with the chief complaint of a painless left submandibular mass that had been present for one year. The patient underwent left submandibular dissection for therapy and diagnosis. Microscopically, papillary lesions with fibrovascular cores were observed in the interior, and the epithelial cells were cylindrical in shape with eosinophilic cytoplasm, round or oval nuclei, with no pathological features, leading to a diagnosis of papillary carcinoma or follicular carcinoma. The mass was diagnosed as a follicular thyroid adenoma with papillary architecture. This is the first report of a follicular adenoma with a papillary architecture originating from an ectopic thyroid gland. CONCLUSION: This experience suggests that follicular adenoma should be included in the differential diagnosis of ectopic thyroid tumors.

The clinicopathological features, treatment outcomes and follow-up results of 47 ectopic thyroid gland cases: a single-center retrospective study.

Background: Ectopic thyroid gland (ETG) is an uncommon clinical condition, presenting various challenges and limitations in its regulate diagnosis and treatment currently. This study aims to enhance our understanding of ETG and improve the strategies for its diagnosis and treatment. Methods: The retrospective single-center study was conducted, encompassing clinical data from ETG patients screened at our institution between 2013 and 2022. Patients were categorized based on the location of the disease, and follow-ups were performed on each. Results: This study included a total of 47 patients who were confirmed to hav confirmed to have ETG. Among them, we found 29 cases of accessory thyroid and 18 cases of aberrant thyroid. Furthermore, 42 cases exhibited the single ETG, while 5 cases displayed the double ETG. The distribution of the ETG was as follows: 20 were lingual, 10 were submandibular, 10 were lateral cervical, 4 were thoracic mediastinal, 1 was esophageal, and 7 were ovarian. Of these cases, 22 patients underwent surgery, 18 received thyroid hormone replacement therapy, and 7 were placed under observation. All patients were followed up for 59.4 (12-117) months. No significant abnormalities were detected at the conclusion of the follow-up period. Conclusion: ETG is frequently observed in the head and neck, particularly in lingual. Accessory thyroid glands are commonly reported, with most cases being single ETG. Notably, these glands usually do not manifest specific clinical symptoms. Therefore, the appropriate and comprehensive examinations during the initial diagnosis are crucial to avoid misdiagnosis. Treatment should be individualized, and long-term follow-up is essential for managing ETG effectively.

Clinical value of Cyclin D1 and P21 in the differential diagnosis of papillary thyroid carcinoma.

BACKGROUND: With the continuous discovery of new borderline thyroid lesions and benign and malignant "gray areas", coupled with the limitations of traditional immune indicators, the differential diagnosis of papillary thyroid carcinoma (PTC) has become more difficult. Cyclin D1 and P21 are cell cycle regulators involved in the occurrence and metastasis of multiple tumors, including PTC, but their specific functions are unclear. METHODS: In our study, immunohistochemical staining was used to explore the expression of Cyclin D1 and P21 in PTC, paracancerous tissue, follicular adenoma (FA) and papillary thyroid hyperplasia. In addition, their relationship with the clinicopathological features of PTC and their differential diagnostic value in distinguishing between intralymph node PTC metastases and intralymph node ectopic thyroid tissue were studied. RESULTS: Among 200 primary PTC lesions, Cyclin D1 and P21 were found to be expressed in 186 (93.00%) and 177 (88.50%), respectively, and their expression levels were significantly higher in PTC tissue than in adjacent tissue, FA tissue and papillary thyroid hyperplasia tissue (P < 0.05). The expression levels of Cyclin D1 and P21 were positively correlated with tumor size and lymph node metastasis (P < 0.05) but not with sex, age, number of tumor lesions, histological subtype, chronic lymphocytic thyroiditis or TNM stage (P < 0.05). The expression levels of Cyclin D1 and P21 were significantly correlated (P < 0.05). The positivity rates of Cyclin D1 and P21 in intralymph node PTC metastases were 97.96% (48/49) and 89.80% (44/49), respectively, which were significantly higher than those in intralymph node ectopic thyroid tissue (P < 0.05). The sensitivity (Se) and negative predictive value (NPV) of Cyclin D1 and P21 detection alone or in combination were higher than those of the combined detection of the classical antibody markers CK19, HBME-1 and Galectin-3. Besides, the Se, Sp, PPV and NPV of Cyclin D1 and P21 in differentiating intralymph node PTC metastases and intralymph node ectopic thyroid tissue were higher. CONCLUSIONS: The results of our study show that Cyclin D1 and P21 are highly sensitive and specific markers for the diagnosis of PTC that are superior to traditional classical antibodies. And, these two markers are of great value in the differential diagnosis of intralymph node PTC metastases and intralymph node ectopic thyroid tissue.

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.

An unusual ectopic thyroid tissue location & review of literature.

Ectopic thyroid is well-known pathology for several decades. Many locations have been described. Nowadays, only three cases of skull base location have been described in literature. In our case, we reported a single case of a 39-year-old male presenting with a supra-sellar and suprachiasmatic location. He presented no clinical symptoms, no endocrine alteration on biology and no skull base invasion which make this case unique compared to actual literature. Such diagnosis should always be an exclusion diagnosis as secondary neoplastic should be first ruled out.

[Basicervical ectopic goiter associated with a eutopic thyroid gland: a case report]. / Une association d'un goitre ectopique basi-cervical et d'une glande thyroïde eutopique: à propos d'un cas.

Thyroid gland is an endocrine gland playing a major role in energy and phosphocalcic metabolism, among others. It commonly occurs in the anterior cervical and pretracheal region. Ectopic thyroid is quite rare. It is dominated by ectopic basilingual thyroid. We here report the case of a patient with goiter in normal cervical position (eutopic) and ectopic thyroid tissue in basicervical position. Cervicotomy revealed the ectopic nodule and the diagnosis was confirmed by histology. This clinical case illustrates a differential diagnosis of cervical masses.

A surgical partial excision for the treatment of lingual ectopic thyroid: a case report.

The lingual ectopic thyroid is a sporadic case. Based on the medical records of Dr. Soetomo General Academic Hospital, Surabaya, they only found one case of ectopic thyroid at least in the last ten years. There is no consensus in the literature about the best therapeutic strategy in managing ectopic thyroid. A 20-year-old female patient with a diagnosis of ectopic lingual thyroid. She has complained of lumps at the base of her tongue since she was ten years old. She performed a partial excision of the tumor with a transoral approach. Partial excision of the lingual ectopic thyroid results in an airway free from obstruction, leaving the rest of the thyroid tissue functioning so that the patient does not require lifelong hormone treatment but has the potential for hypertrophy to recur. The transoral approach provides post-operative results that maintain aesthetic function and reduce morbidity and hospitalization. Partial excision of lingual ectopic thyroid gives good results.

Ectopic intrapulmonary thyroid masquerading as metastatic carcinoma of the lung: a rare case scenario.

BACKGROUND: The intrapulmonary ectopic thyroid gland is exceedingly rare since the ectopic thyroid was discovered. Only eight cases have been reported in the worldwide literature. We present a case of multiple intrapulmonary ectopic thyroid glands with nodular goiter in a 10-year-old girl. CASE PRESENTATION: The girl was found with multiple intrapulmonary nodules in bilateral lungs during the treatment of nodular goiter. The intrapulmonary lesions were initially thought to be a high possibility of metastatic cancer. A computed tomography-guided percutaneous lung biopsy was performed, and the pathological examination confirmed that the diagnosis was ectopic intrapulmonary thyroid. CONCLUSION: The ectopic intrapulmonary thyroid should be considered when children with nodular goiter presenting with suspected metastases in the lung.

Hepatic incidentaloma: An asymptomatic ectopic thyroid tissue.

An ectopic thyroid is a form of thyroid dysgenesis in which the entire thyroid gland or parts of it may be located in another part of the body than the usual place. The most frequent location is the base of the tongue. Although most cases are asymptomatic, symptoms related to tumor size and its relationship with surrounding tissues, hormonal dysfunction, and seldom malignancy may also occur. Here, we describe the case of an asymptomatic woman who was thyroidectomized 19 years previously for a toxic goiter and treated with conventional L-thyroxine therapy, until we enacted a progressive reduction of dosage of the replacement therapy. Incidentally, because of occasional abdomen discomfort, she was hospitalized in our Division of Endocrinology as there was ultrasound evidence of a large mass in the liver dislocating and imprinting the choledochal duct in the pre-pancreatic site, the gallbladder, and the cystic duct, which could not be dissociated from the contiguous hepatic parenchyma and was in very close proximity to the second duodenal portion and the head of the pancreas. Imaging techniques, such as TC, MR, TC/PET, and 131I scintigraphy, confirmed the large lesion with a diameter on the axial plane of about 8 × 5.5 cm and a cranio-caudal extension of about 6 cm. The impossibility of surgical debulking and/or radiometabolic 131I therapy, in the absence of compression symptoms, led to the multidisciplinary decision of a clinical and instrumental follow-up of this rare lesion.

Rare ectopic thyroid tissue as multiple bilateral pulmonary nodules: a case report and literature review.

BACKGROUND: The prevalence of ectopic thyroid tissue is 1 in every 100,000 to 300,000 persons in the general population, and ectopic thyroid tissue in the bilateral lung lobes is even rarer. Due to its rarity, there is no definitive or standard guidance on the diagnosis and treatment of ectopic thyroid tissue presenting as multiple bilateral pulmonary nodules. CASE PRESENTATION: A 56-year-old woman presented with multiple bilateral pulmonary nodules, and the patient had a history of hyperthyroidism but had no symptoms of ectopic thyroid tissue. Computed tomography (CT) demonstrated multiple solid nodules in both lungs, and the largest nodule (sized 15 × 14 mm) was located in segment 5 of the upper left lung. The initial diagnosis based on imaging was metastatic malignancies. Positron emission tomography-computed tomography (PET-CT) showed multiple bilateral intrapulmonary nodules that had slightly increased metabolism (SUVmax 1.7). The largest pulmonary nodule and another nodule in the left lung were resected by video-assisted thoracoscopy surgery (VATS). The pathological and immunohistochemical (IHC) examinations confirmed a diagnosis of ectopic thyroid tissue. No postoperative adjuvant therapy was given, and the patient was discharged 3 days after the operation and had regular follow-up examinations. CONCLUSION: The diagnosis of ectopic thyroid tissue in the bilateral lung lobes is extremely difficult and should be considered carefully. PET-CT and surgical resection of intrapulmonary nodules are alternatives for clinicians in diagnosing ectopic thyroid tissue. Regular postoperative follow-up is needed.

Primary Congenital Hypothyroidism in Children Below 3 Years Old - Etiology and Treatment With Overtreatment and Undertreatment Risks, a 5-Year Single Centre Experience.

Worldwide neonatal screening for congenital hypothyroidism (CH) is a gold standard of active surveillance in newborns. Prompt diagnosis, subsequent timely treatment implementation, and proper dosage of levothyroxine (L-T4) are crucial for normal growth and development, especially of the central nervous system. However, overtreatment may have a potential negative impact on further neurodevelopment. We retrospectively analysed data of 99 newborns with CH diagnosis, referred to the Endocrinology Outpatient Clinic of the Institute of Mother and Child in Warsaw, Poland from the CH screening program from 2017 to 2021. We evaluated the diagnostic process and treatment up to the age of 3 years. We compared groups of children from the first and the second screening groups (FSG, SSG) in the neonatal screening with an evaluation of ultrasound examination (thyroid dysgenesis vs. gland in situ, GIS). The overtreatment and undertreatment risks were assessed and an analysis of the new TSH thresholds was performed. Treatment was implemented at a median of 9 days of life (3 - 27); 8 days (3 - 17) in FSG and 19 (6 - 27) in SSG. The dose of L-T4 differed between FSG and SSG at all three analysed time points (start of the therapy, 12 months, and 3 years) with significantly higher doses in FSG. The same was observed for the patients with thyroid dysgenesis vs. GIS. Screening TSH level was ≥ 28mIU/l in 91.7% of patients with thyroid dysgenesis in comparison to 74.0% of patients with GIS (p= 0.038). The optimally treated group (fT4 in the upper half of the reference range, according to the guidelines) was up to 58.0% of the children during the follow-up. The risk for overtreatment was present in 1/5 of the study group after 12 months and 1/4 after 3 years of L-T4 therapy. Analysis of new TSH thresholds showed an increased prevalence of mild hypothyroidism, GIS, and either euthyroid state or overtreatment while treating with lower L-T4 doses in comparison to the rest of the cohort. The study confirmed the general efficacy of the CH diagnostic pathway and the timely implemented L-T4 therapy. The suspected overtreatment after the first 12 months of L-T4 therapy requires consideration of the earlier diagnosis re-evaluation.

[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.

[Clinical case - neoplasm of the nasal septum, which turned out to be papillary cancer of the ectopic thyroid gland]. / Klinicheskii sluchai ­ novoobrazovanie peregorodki nosa, okazavsheesya papillyarnym rakom ektopirovannoi shchitovidnoi zhelezy.

In this clinical case, papillary carcinoma was detected in the ectopic area of the thyroid gland in the presence of an unchanged thyroid gland of natural localization. An extremely rare disease is presented and an examination algorithm is proposed that is recommended to exclude unusual pathology in the absence of a response to ongoing conservative treatment.

A rare presentation of ectopic thyroid tissue in the submandibular region: a case report.

Ectopic thyroid tissue in the lateral neck is a rare finding, especially in the submandibular region. This case report presents a 38-year-old female patient with swelling in the lateral cervical neck. Due to a thyroid goitre, right hemithyroidectomy was performed in the past. However, a persistent high thyroglobulin level was detected after surgery. Regarding the suspected tumour in the submental region, a cervical magnetic resonance imaging (MRI) was performed, which revealed a suspicious looking mass. The patient underwent complete surgical excision and the histopathological report concluded that the tumour was ectopic thyroid tissue. Her thyroglobulin level decreased back to a normal level after excision of the submandibular mass. These results show that ectopic thyroid tissue must be considered a differential diagnosis for patients with unclear swelling in the submental region.

Impact of the reduction in TSH cutoff level to 6 mIU/L in neonatal screening for congenital hypothyroidism in Santa Catarina: final results.

OBJECTIVE: To assess the implications of changing the cutoff level of TSH from 10 to 6 mIU/L. METHODS: The study population was constituted by 74.123 children screened for congenital hypothyroidism by the National Screening Program in Santa Catarina, from March 2011 to February 2012. The cutoff of TSH was 6 mIU/L. If TSH between 6-10 mIU/L, the newborn was recalled for a second TSH measurement on filter paper. If TSH > 6 mIU/L in the second sample, the child was sent for medical evaluation. In children with normal topic thyroid, levothyroxine was suspended for 1 month at the age of 3 years for identification of the etiology and evaluation of the need to continue treatment. RESULTS: Among the children screened, 435 were recalled for presenting TSH between 6 and 10 mIU/L in the first sample, 28 remained TSH > 6 mIU/L in the second sample. Among these, 11 had a final diagnosis of dyshormonogenesis, two of ectopic thyroid, two of thyroid hypoplasia and one of transient hypothyroidism. Ten children presented normal TSH levels on the first medical evaluation and two lost follow-up. CONCLUSION: A decrease in the TSH cutoff level from 10 to 6 mIU/L in a neonatal screening program for congenital hypothyroidism reduced the number of false-negative results, increasing the sensitivity of the test, but increased the number of false-positive results and recalls. Since a TSH cutoff level of 6 mIU/L detects thyroid function abnormalities requiring treatment, the adoption of this cutoff level is justified.

[A rare case of renal ectopic thyroid tissue]. / Ein seltener Fall eines renalen ektopen Schilddrüsengewebes.

We present a rare case of ectopic thyroid tissue found during robotic nephrectomy of a kidney with a suspected malignant tumour. Such cases of ectopic thyroid tissue are extremely rare in the literature. If ectopic thyroid tissue occurs, it is usually found in the neck region or in the upper mediastinum. Clinical symptoms depend on size, localisation and hormonal function of the ectopic tissue. Surgical resection remains the treatment of choice; in individual cases, conservative treatment can be an option. This case report aims to emphasise that renal tumours of unknown origin might be paraneoplastic or ectopic tissue of other organs.