Thyroid Hemiagenesis Research Articles

Thyroid Hemiagenesis Accompanying a Thyroglossal Duct Cyst: a Case Report

Thyroid Hemiagenesis Accompanying a Thyroglossal Duct Cyst: a Case Report

8373 High suspicion for thyroid cancer in patient with thyroid Hemiagenesis

Abstract Disclosure: L. Aoun: None. S. Almardini: None. M. Anise: None. F. Haddadin: None. F. Saliba: None. J. Zaidan: None. Background: Thyroid Hemiagenesis (THA) is a rare condition characterized by congenital absence of one lobe of the thyroid gland. Notably, THA is more prevalent in females and the left lobe is more likely to be absent with or without the isthmus. Most patients are euthyroid, and diagnosis is usually incidental, so the true prevalence of THA is uncertain as there are certainly undiagnosed cases. Studies have shown a link between THA, thyroid cancer, and hyperparathyroidism. We present a case of THA and high suspicion for thyroid cancer. Case Presentation: 54-year-old female with history of Rheumatoid arthritis who presented for evaluation of incidental thyroid nodules, occasional palpitations, tremors, and mild change in her voice. She denied abnormal weight loss or diarrhea. No history of radiation to the neck and no family history of thyroid disease or thyroid cancer. The thyroid exam showed an enlarged left palpable nodule. Labs significant for TSH 1.6 mIU/L (normal: 0.4-4 mIU/L), FT4 0.8 ng/dl (normal 0.7-1.9 ng/dL) and T3 77ng/dL (normal: 60-180 ng/dL). Thyroid U/S showed left hemiagenesis and right sided nodules biggest is 1.1 cm solid, hypoechoic with coarse calcifications, FNA was recommended and showed follicular lesion of undetermined significance, molecular testing was done and Thyroseq came back intermediate to high risk RAS and EIF1AX positive reflecting a 70 % probability of cancer. Based on these results, surgery was recommended, and the patient underwent right thyroidectomy. Surgery was uncomplicated and despite reported higher risk of hyperparathyroidism patient’s calcium and PTH were normal, and no parathyroid adenomas were identified intraoperatively. The pathology from the thyroidectomy showed follicular adenoma of 1 cm and no malignancy. She was started on Synthroid 100mcg daily post op. Discussion: This case demonstrates a case of a benign thyroid nodule and preserved parathyroid levels in the setting of thyroid hemiagenesis. Usually in THA, the contralateral lobe is at an increased risk for pathology of compensatory hypertrophy or hyperplasia. According to available studies, cancer association with THA was more common in left hemiagenesis and parathyroid adenomas more common ipsilateral to hemiagenesis . Despite Our patient’s FNA revealed atypical findings, molecular testing revealed RAS and EIF1AX positive, marking intermediate to high cancer risk. However, the thyroidectomy pathology report unveiled no evidence of malignancy, contraindicating the anticipated high cancer risk in those with left THA. This case highlights the rarity of THA and different possible presentations and cancer risks. Presentation: 6/2/2024

Right-sided Thyroid Hemiagenesis in a Male Newborn with Congenital Hypothyroidism: A Case Report with Review of Literature

Background: Thyroid hemiagenesis (THA) is a rare aberration in the development of the thyroid gland, denoted by the absence of either thyroid lobe with or without the isthmus, common in females, predominantly involving left lobe of thyroid, usually maintaining a euthyroid state. Clinical Description: A premature male baby born at 34 weeks gestation with birth weight 1100 g was admitted in the neonatal intensive care unit (NICU) for respiratory distress soon after birth. The antenatal period was uneventful and maternal thyroid status was within normal limits. Management and Outcome: While the newborn was being stabilized in NICU, the results of routine cord blood screening revealed raised thyroid-stimulating hormone levels, following which an ultrasound examination showed right THA, confirmed further by technetium-99 radionuclide scan. Thyroxine was initiated for persistent hyperthyrotropinemia. The baby was eventually discharged and was doing well till 6 months of follow-up. Conclusion: Unlike the common scenario published in literature, our case of THA was seen in a male newborn, involving the right lobe of the thyroid along with a hypothyroid state. As THA is a state of continuous overstimulation of thyroid tissue, newborn screening and detection of this abnormality at this early age is important.

Thyroid Hemiagenesis: An Incidental Discovery during Treatment for Papillary Thyroid Carcinoma

Abstract Thyroid hemiagenesis (THA) is a rare congenital abnormality in which one of the thyroid lobes fails to develop normally. The prevalence rates range from 0.02% to 0.25%, with no gender preponderance and most commonly involve the left lobe. We report a case of left THA in a 37-year-old female that was found incidentally during total thyroidectomy for right papillary thyroid carcinoma. Most patients with THA are asymptomatic, however, may have subclinically raised thyroid-stimulating hormone levels or be predisposed to developing thyroid disorders such as nodular goiter, hyperthyroidism, Grave’s disease, Hashimoto’s thyroiditis, hyperparathyroidism, or malignancy. Usual imaging techniques such as ultrasonography, computed tomography, and magnetic resonance imaging allow the confirmation of diagnosis and provide clearer glandular and regional visualization. Additional modalities such as thyroid scintigraphy enable the functional assessment and identification of any suspicious nodules and aid in decision-making. THA is a very uncommon condition and the diagnosis is primarily made through imaging. Clinicians should be aware that this condition exists along with documented associations of concomitant thyroid disorders and malignancy.

Incidentally Diagnosed Thyroid Hemiagenesis with Papillary Thyroid Carcinoma: A Case Report and Literature Review

Incidentally Diagnosed Thyroid Hemiagenesis with Papillary Thyroid Carcinoma: A Case Report and Literature Review

A Rare Case of Thyroid Hemiagenesis with Graves Disease

A Rare Case of Thyroid Hemiagenesis with Graves Disease

SAT476 A Case of Thyroid Hemiagenesis

Abstract Disclosure: P. Kachhadia: None. S. Khan: None. S. Aldasouqi: None. A. Abu Limon: None. Introduction: Thyroid hemiagenesis is congenitally rare, in which one side of the thyroid does not develop. Hemiagenesis is more common with an absent left thyroid lobe, at a 4:1 ratio. Though prevalence is sited at 0.05%, actual incidence of hemiagenesis amongst the population is unknown as most patients are euthyroid and asymptomatic. We present a case of a patient who was referred to our clinic for unilateral thyroid enlargement on physical exam. Thyroid Ultrasound (US) was done which showed an absent left thyroid lobe along with enlarged right thyroid lobe and hypervascularity. There was also an incidental thyroid nodule noted on US. Case Presentation: Patient is a 38 year old female who presented to the clinic 4 years prior for enlarged thyroid nodule noted on ultrasound. With symptoms of dysphagia and a visibly enlarged gland, an US with labs was prompted by her primary physician. US showed absent left thyroid lobe and right lobe enlargement with hypervascularity and incidental subcentimeter nodule. Clinically and biochemically, the patient was euthyroid. Singular right lobe was verified on clinic real time ultrasound and on NM uptake scan. The 24 hour uptake was at 30.5%, with the upper limit of normal being 30%. With increased uptake and hypervascularity, thyroid stimulating immunoglobulin and thyrotropin receptor antibodies were checked and were not detected. It was thought that the right thyroid gland enlargement and hypervascularity were compensatory due to the left hemiagenesis. The thyroid nodule was monitored, and within 3 years of original imaging, it enlarged to 0.98 x 0.59 x 0.39 cm, with TI-RADS 5 assessment per ACR criteria. Patient chose to undergo thyroid biopsy which showed Bethesda III, Follicular Lesion of Undetermined Significance (FLUS). Microscopy showed follicular cells arranged in microfollicles and crowded groups with round, enlarged, irregular nuclei and overlapping nucleoli. Intranuclear chromatin clearing and intranuclear grooves are present. Background is hemorrhagic with minimal colloid. Molecular Thyroseq testing was at 5-10% chance of malignancy or noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP). Genetic markers were only positive for copy number alterations. Discussion: Thyroid Hemiagenesis, though rare, has been associated with other thyroid pathologies such as hypothyroidism, hyperthyroidism and thyroid malignancies. Genetic studies have not found a common background within cases reported. As these patients are more likely to incur additional thyroid pathologies, questions still remain as to the clinical management and outcome of such patients. Due to concerning cytological features for PTC, the patient was offered right thyroidectomy and will be looking to make a decision in the near future. Presentation Date: Saturday, June 17, 2023

Thyroid hemiagenesis.

Thyroid hemiagenesis.

Congenital hypothyroidism in children with eutopic gland or thyroid hemiagenesis: prognostic factors for transient vs. permanent hypothyroidism.

More than one third of children with congenital hypothyroidism (CH) and thyroid gland in situ(or eutopic gland) have transient hypothyroidism. It remains difficult to determine early on whether hypothyroidism will be transient which may cause overtreatment and its complications in these children. Our primary aim was to determine prognostic factors for transient hypothyroidism in children with congenital hypothyroidism and eutopic gland or thyroid hemiagenesis. We retrospectively reviewed medical records of111 children, born between 1996 and 2017, diagnosed withcongenital hypothyroidism and eutopic gland or hemiagenesis and treated at the Nancy Regional and University Hospital. Fifty four infants (48.6%) had permanent congenital hypothyroidism (PCH) and 57 (51.4%) transient congenital hypothyroidism (TCH). Prognostic factors for TCH included prematurity, twin pregnancy, low birth weight and Apgar score <7, while low FT3 at diagnosis, maternal levothyroxine treatment, a family history of thyroid dysfunction and TSH≥10mUI/L while receiving treatment were associated with PCH. Knee epiphyses on X-ray at diagnosis were absent only in children with PCH. The median levothyroxine dose during follow-up was significantly lower in the TCH group compared to the PCH group. A levothyroxine dose of≤3.95,≤2.56,≤2.19 and≤2.12μg/kg/day at 6months, 1, 2 and 3years of follow-up, respectively, had the best sensitivity-to-specificity ratio for predicting TCH. Even though it remains difficult to predict thecourse of hypothyroidism at diagnosis, we were able to identify several prognostic factors for TCH including perinatal problems and lower levothyroxine requirements that can guide the physician on the evolution of hypothyroidism. Clinical Trial Registration Number: NCT04712760.

Computed tomography findings of thyroid hemiagenesis: differentiation from hemithyroidectomy

ObjectivesThyroid hemiagenesis is a rare congenital anomaly characterized by the lack of development of one thyroid lobe. The purpose of this study was to evaluate computed tomography (CT) findings of thyroid hemiagenesis and to establish useful CT criteria for differentiating thyroid hemiagenesis from the hemithyroidectomy state.MethodsThe CT images of 11 patients with thyroid hemiagenesis were retrospectively reviewed and compared with those of 100 (49 left and 51 right) patients in a hemithyroidectomy state. Image analysis was performed according to the following CT parameters: (a) side of thyroid hemiagenesis, (b) edge of the medial end of the remnant thyroid gland, (c) location of the medial end of the remnant thyroid gland, expressed as the angle of the medial end and (d) any other thyroid abnormality observed during the initial examination.ResultsThe missing lobe occurred more often in the left than in the right lobe (72.7% vs. 27.3%) as well as concomitant isthmus agenesis (100% vs. 37.5%). The sharp edge of the medial end of the remnant thyroid gland was more common in thyroid hemiagenesis (64%) than in hemithyroidectomy (26%) (P = 0.0153). In left thyroid hemiagenesis, the angle of the medial end (63%) was more frequently > + 30° than in hemithyroidectomy (0%) (P < 0.0001). Two patients presented with hypothyroidism; the remaining nine showed a normal thyroid function. The associated thyroid diseases were autoimmune thyroiditis (n = 1) and papillary thyroid carcinoma (n = 1).ConclusionsThe sharp edge of the medial end of the remnant thyroid gland and an angle of > + 30° for the medial end in cases wherein the left lobe is absent are useful CT features for distinguishing thyroid hemiagenesis from hemithyroidectomy.

Hemiagenesis of the Thyroid in a Seven-year-old Child: A Case Report

Thyroid Hemiagenesis (TH) is a rare condition characterised by developmental abnormalities of the thyroid, often observed on the left-side, with a higher prevalence in females. It is commonly associated with a lack of the isthmus. A seven-year-old boy presented to the Ear Nose Throat (ENT) Department with chief complaints of bilateral ear block sensation and dull aching earache persisting for two months, for which syringing was performed. No family history of TH or any past surgeries related to the neck, thyroid, or parathyroid were reported. In recent laboratory tests, his Thyroid Stimulating Hormone (TSH) level was 7.23 μIU/mL, free tetraiodothyronine was 8.91 mcg/dL, free triiodothyronine was 75.06 ng/dL, and Antithyroid Peroxidase (TPO) was 2.0 IU/ mL. The neck ultrasound revealed the absence of the left thyroid lobe and isthmus. He was diagnosed with congenital TH and hypothyroidism and was treated with a dosage of 25 mcg of levothyroxine. TH can be incidentally discovered and may manifest in later stages of life. Patients with TH are more prone to developing hypothyroidism compared to individuals with a complete thyroid, as they have lower reserves of thyroid hormones.

Thyroid hemiagenesis: description of two clinical cases, anatomical review, and critical synthesis of the literature

Thyroid hemiagenesis: description of two clinical cases, anatomical review, and critical synthesis of the literature

Corrigendum to “Thyroid hemiagenesis with Graves' disease: The first reported case in Lebanon” [J Clin Transl Endocrinol: Case Rep (2022) 100128

Corrigendum to “Thyroid hemiagenesis with Graves' disease: The first reported case in Lebanon” [J Clin Transl Endocrinol: Case Rep (2022) 100128

Unexpected finding of thyroid hemiagenesis in a patient presenting with a right thyroid nodule and a history of Poland syndrome

Unexpected finding of thyroid hemiagenesis in a patient presenting with a right thyroid nodule and a history of Poland syndrome

A case of thyroid hemiagenesis with thyroiditis

&lt;p class="abstract"&gt;Thyroid hemiagenesis is a very rare congenital abnormality, in which one thyroid lobe fails to grow. Most of the patients are usually associated thyroid disease. The prevalence of thyroid hemiagenesis ranges between 0.05% and 0.2% within the literature. We hereby report a case of 29 years male with left lobe thyroid hemiagenesis with right lobe thyroiditis presented with a feature of hyperthyroidism. Thyroid hemiagenesis can be associated with hyper or hypothyroidism. In our case patient had a feature of hyperthyroidism with dearranged TFT. In our case we detected thyroid hemiagensis incidentally with the help of ultrasonography. Ultrasonography was the investigation that detected thyroid hemiagenesis. Ultrasonography is the most cost-effective means of diagnosing thyroid hemiagenesis. We further performed the thyroid scan to detect any hyperfunctioning thyroid gland or ectopic thyroid. Thyroid scan helped detect thyroiditis in the right thyroid lobe.&lt;/p&gt;

NKX2-5 Variant in Two Siblings with Thyroid Hemiagenesis.

Thyroid hemiagenesis (THA) is an inborn absence of one thyroid lobe of largely unknown etiopathogenesis. The aim of the study was to reveal genetic factors responsible for thyroid maldevelopment in two siblings with THA. None of the family members presented with congenital heart defect. The samples were subjected to whole-exome sequencing (WES) (Illumina, TruSeq Exome Enrichment Kit, San Diego, CA 92121, USA). An ultra-rare variant c.839C>T (p.Pro280Leu) in NKX2-5 gene (NM_004387.4) was identified in both affected children and an unaffected father. In the mother, the variant was not present. This variant is reported in population databases with 0.0000655 MAF (GnomAD v3, dbSNP rs761596254). The affected amino acid position is moderately conserved (positive scores in PhyloP: 1.364 and phastCons: 0.398). Functional prediction algorithms showed deleterious impact (dbNSFP v4.1, FATHMM, SIFT) or benign (CADD, PolyPhen-2, Mutation Assessor). According to ACMG criteria, variant is classified as having uncertain clinical significance. For the first time, NKX2-5 gene variants were found in two siblings with THA, providing evidence for its potential contribution to the pathogenesis of this type of thyroid dysgenesis. The presence of the variant in an unaffected parent, carrier of p.Pro280Leu variant, suggests potential contribution of yet unidentified additional factors determining the final penetrance and expression.

Thyroid Hemiagenesis: Narrative Review and Clinical Implications.

Thyroid Hemiagenesis (THA) is an uncommon, congenital anomaly defined by the absence of one thyroid lobe with or without the isthmus. Reports suggest it may be found more often in regions endemic for hypothyroidism. Genetic abnormalities are thought to have a role based on findings in monozygotic twins. Most cases are sporadic, however familiar clusters have also been documented. It is found more frequently in females. A majority of patients report no symptoms and THA is found incidentally during investigations or intraoperatively. THA is usually associated with normal thyroid function, but it can present with thyroid hypofunction.Since a majority of patients are asymptomatic, there are no specific recommendations for management. Ultrasound imaging and thyroid scintigraphy using technetium or iodine are useful in diagnosis. Its clinical importance occurs when the remnant thyroid lobe requires excision leading to the lifelong requirement for thyroxine supplementation.Published English literature (Medline, PubMed, and Embase databases) was searched. Medical subject headings (MeSH) terms used were “thyroid hemiagenesis,” “one thyroid lobe,” and “thyroid aplasia”. Case reports, case series, and original articles were selected to provide a framework for this review.Articles reviewed were published in the past 20 years. The association of THA with thyroid cancer was explored. In this group, the F:M ratio was 3.25:1. Left THA constituted 53% of cases, right THA in 29.4%, and isthmus absence in 17.6% of cases. Also, the authors investigated the link between THA and hyperparathyroidism, both left and right THA are seen in an equal number of cases in the hyperparathyroidism subgroup. In patients with THA and Grave’s disease, left THA was seen in a majority of cases (86.7%), while an equal number of left and right THA was observed in patients with Hashimoto’s thyroiditis. In addition, congenital abnormalities associated with THA were observed, the left THA was seen in 60% and right THA in 40% of cases of this subgroup.The summative review provided a detailed insight into the epidemiology, aetiopathogenesis, genetics, symptomatology, diagnosis, and treatment for THA by combining findings and results from almost a hundred research papers from around the world. THA remains a poorly understood, often incidentally detected, abnormality in euthyroid patients undergoing investigations and treatment for other thyroid disorders.

A rare case of right thyroid hemiagenesis associated with papillary carcinoma in remnant lobe

A rare case of right thyroid hemiagenesis associated with papillary carcinoma in remnant lobe

Thyroid hemiagenesis associated with Hurthle cell carcinoma: A case report.

Introduction and importanceThyroid hemiagenesis (TH) is a rare congenital anomaly where one lobe fails to develop, especially more frequently occurs on the left lobe. The exact mechanisms for thyroid morphogenesis remain unclear. In this paper, we report a rare case of right lobe TH associated with Hurthle cell carcinoma.Case presentationA 59 years old woman was admitted with a neck lump increasing in size in the last 20 years. There were no symptoms of hyperthyroidism and hypothyroidism. There was a palpable, painless 5 cm mass in the middle of the neck. Initial thyroid ultrasonography (USG) revealed an enlarged left lobe, with hypoechoic lesion with cystic component and calcification (TIRADS 4). However, the right lobe was non-visualized. Fine needle aspiration biopsy result tendency was a malignancy. Hence, isthmolobectomy was conducted. Pathology result was Hurthle cell carcinoma. On the ninth month, USG revealed fibrotic tissue in the right thyroid bed and bilateral lymphadenopathy. Due to discrepancy, the patient was planned for a neck exploration surgery and a right lobe incision. Intraoperatively, the right thyroid was absent. Intraoperative USG also confirmed no right thyroid lobe.DiscussionThyroid hemiagenesis can be visualized by using USG due to its practicality and cost effectiveness reasons. Follow up evaluations consisted of systematic monitoring of thyroid morphology and hormonal functions should follow the diagnosis of TH. Neck exploration surgery might need to be performed to clarify any discrepancy and confirm the diagnosis.ConclusionTH can be recognized through supporting examination; however, discrepancy may occur.

Parathyroid Carcinoma in a Patient With Secondary Hyperparathyroidism and Thyroid Hemiagenesis: A Case Report and Review of the Literature.

Parathyroid carcinoma is a rare endocrine tumor. Parathyroid carcinoma in patients with secondary hyperparathyroidism due to chronic kidney disease is also rare. In addition, thyroid hemiagenesis is a rare congenital anomaly. We report an extremely rare case of parathyroid carcinoma in a patient with secondary hyperparathyroidism and thyroid hemiagenesis. We also present a review of the literature of this rare entity. We also discuss the surgical procedure performed for this patient. Our review of the literature found 34 case reports of parathyroid carcinoma in patients undergoing dialysis due to chronic renal failure; 14 reports of thyroid hemiagenesis with parathyroid disease; and no previous reports of thyroid hemiagenesis with secondary hyperparathyroidism and parathyroid carcinoma. Although surgical treatment of parathyroid carcinoma requires combined resection with the thyroid, peritracheal dissection with total parathyroidectomy, and monitoring intact parathyroid hormone as a tumor marker, our procedure preserved the patient's thyroid function. There has been no evidence of recurrence for over 8 years.