Thyroid hemiagenesis with a TI-RADS 2 nodule in the contralateral lobe

Sereke, Senai Goitom; Oriekot, Anthony; Bongomin, Felix

doi:10.1186/s13044-021-00101-5

Cited by 7 publications

(11 citation statements)

References 19 publications

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“…The aetiology of THA remains unknown, but the defect may be due to the failure of the thyroid to become a bi-lobed structure and spread laterally 2. THA occurs as sporadic but familial clustering has been reported earlier 17. Thyroid transcription factors—TTF1 (NKX2), PAX and TTF2 (FOXE1) have been associated with THA 8 11 17.…”

Section: Discussionmentioning

confidence: 99%

Colloid nodular goitre associated with hemiagenesis of the thyroid gland

Sadhasivan,

Abhinaya,

Kumbhar

2024

BMJ Case Rep

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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.

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Section: Discussionmentioning

confidence: 99%

Colloid nodular goitre associated with hemiagenesis of the thyroid gland

Sadhasivan,

Abhinaya,

Kumbhar

2024

BMJ Case Rep

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“…the presence of thyroglossal cysts) are more common compared to the absence of either lobe which is quite rare [ 25 ]. The cause of THA is not known and possible theories include failure of descent, defects in lobulation, or genetic aberrations [ 4 ].…”

Section: Reviewmentioning

confidence: 99%

“…Different studies have shown that in 80% of cases, it affects the left lobe with an L:R ratio of 4:1. The absence of the isthmus is seen in 50% of cases with hemiagenesis of the left lobe while the absence of the right lobe is seen mostly with agenesis of the isthmus [ 4 ]. Frequently, THA is an incidental phenomenon as the majority of patients have normal thyroid function.…”

Section: Introductionmentioning

confidence: 99%

“…The true prevalence of this anomaly is therefore uncertain because most patients remain asymptomatic and therefore presumably undiagnosed [ 5 ]. There is no specific recommendation for management, especially in asymptomatic cases and its clinical importance occurs when the remnant thyroid lobe requires excision leading to the lifelong requirement for thyroxine supplementation [ 4 , 6 ].…”

Section: Introductionmentioning

confidence: 99%

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Thyroid Hemiagenesis: Narrative Review and Clinical Implications

Lesi¹,

Thapar²,

Appaiah³

et al. 2022

Cureus

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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.

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“…Thyroid hemiagenesis (THA) is an inborn absence of one thyroid lobe of largely unknown etiopathogenesis, affecting 0.05–0.5% of the population [ 2 ]. The anomaly rarely causes CH, thus may remain undetected until adulthood [ 3 , 4 ]. However, it has been demonstrated to pose an increased risk of thyroid compensatory enlargement, nodular goiter, and possibly also autoimmune thyroid diseases [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

NKX2-5 Variant in Two Siblings with Thyroid Hemiagenesis

Szczepanek‐Parulska

Budny

Borowczyk

et al. 2022

IJMS

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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.

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Thyroid hemiagenesis with a TI-RADS 2 nodule in the contralateral lobe

Cited by 7 publications

References 19 publications

Colloid nodular goitre associated with hemiagenesis of the thyroid gland

Colloid nodular goitre associated with hemiagenesis of the thyroid gland

Thyroid Hemiagenesis: Narrative Review and Clinical Implications

NKX2-5 Variant in Two Siblings with Thyroid Hemiagenesis

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