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Hormone Research in Paediatrics 2010FOXE1 (or TTF-2) has been recognized as one of the thyroid dysgenesis (TD)-related genes based on its early expression at the thyroid bud stage and on the finding in... (Review)
Review
FOXE1 (or TTF-2) has been recognized as one of the thyroid dysgenesis (TD)-related genes based on its early expression at the thyroid bud stage and on the finding in Foxe1 knock-out mice of a sublingual or absent thyroid gland. In humans, three homozygous loss-of-function missense mutations located within the forkhead domain have been reported in 5 patients with Bamforth syndrome. This syndrome is a rare inherited condition whose main features are congenital hypothyroidism (CH) due to TD (usually athyreosis), cleft palate, and spiky hair, with or without choanal atresia and bifid epiglottis. These FOXE1 mutations were typically inherited from heterozygous carrier parents who were usually consanguineous. Recently, a novelmissense mutation was found in a patient with sporadic Bamforth syndrome, inherited via uniparental isodisomy. Altogether these observations strongly suggest that FOXE1 is involved in both familial and sporadic syndromic CH due to TD in association with cleft palate. Nevertheless, despite intensive research, FOXE1 mutations have been identified in only a minority of the affected patients. Recent data suggest that the transcription factor encoded by FOXE1 may act as a susceptibility factor for TD via variations in FOXE1 polyalanine tract length, which may modulate the risk of TD.
Topics: Cleft Palate; Forkhead Transcription Factors; Genetic Predisposition to Disease; Humans; Mutation; Thyroid Dysgenesis
PubMed: 20453517
DOI: 10.1159/000281438 -
Borealin/CDCA8 deficiency alters thyroid development and results in papillary tumor-like structures.Frontiers in Endocrinology 2023/ mutations are associated with congenital hypothyroidism and thyroid dysgenesis. Borealin is involved in mitosis as part of the Chromosomal Passenger Complex. Although...
BACKGROUND
/ mutations are associated with congenital hypothyroidism and thyroid dysgenesis. Borealin is involved in mitosis as part of the Chromosomal Passenger Complex. Although mutations decrease thyrocyte adhesion and migration, little is known about the specific role of Borealin in the thyroid.
METHODS
We characterized thyroid development and function in Borealin-deficient ( ) mice using histology, transcriptomic analysis, and quantitative PCR.
RESULTS
Thyroid development was impaired with a hyperplastic anlage on embryonic day E9.5 followed by thyroid hypoplasia from E11.5 onward. Adult mice exhibited euthyroid goiter and defect in thyroid hormone synthesis. aged mice had disorganized follicles and papillary-like structures in thyroids due to ERK pathway activation and a strong increase of -like genes described by The Cancer Genome Atlas (TCGA) network of papillary thyroid carcinoma. Moreover, thyroids exhibited structural and transcriptomic similarities with papillary thyroid carcinoma tissue from a human patient harboring a mutation, suggesting a role in thyroid tumor susceptibility.
CONCLUSION
These findings demonstrate Borealin involvement in critical steps of thyroid structural development and function throughout life. They support a role for Borealin in thyroid dysgenesis with congenital hypothyroidism. Close monitoring for thyroid cancer seems warranted in patients carrying mutations.
Topics: Animals; Mice; Cell Cycle Proteins; Congenital Hypothyroidism; Thyroid Cancer, Papillary; Thyroid Dysgenesis; Thyroid Neoplasms
PubMed: 37964961
DOI: 10.3389/fendo.2023.1286747 -
FEBS Open Bio May 2021Thyroid dysgenesis (TD) is a major cause of primary congenital hypothyroidism; however, the molecular mechanism underlying this process is unclear. Current knowledge...
Thyroid dysgenesis (TD) is a major cause of primary congenital hypothyroidism; however, the molecular mechanism underlying this process is unclear. Current knowledge regarding the morphogenesis of the thyroid gland and vascular anomalies affecting thyroid development is limited. To monitor the early stages of thyroid gland development, we generated double transgenic zebrafish embryos Tg(tg:mCherry/flk1:EGFP). We described the volume of the thyroid from 2 days postfertilization (dpf) to 5 dpf using 3D reconstruction images. We treated zebrafish embryos with the fibroblast growth factor (FGF) inhibitor PD166866 to better understand the impact of vascular defects on thyroid development and the effects of drug administration at specific time periods on different stages of thyroid development. The 3D reconstruction data revealed that the thyroid glands underwent significant transformation at critical time points. PD166866 treatment from 48 to 72 hours postfertilization (hpf) and from 72 to 96 hpf did not cause obvious reductions in thyroid volume but did result in observable abnormalities in thyroid morphology. The treatment also affected thyroid volume from 36 to 48 hpf, thus indicating that there are time-point-specific effects of drug administration during thyroid development. Three-dimensional image reconstruction provides a comprehensive picture of thyroid anatomy and can be used to complement anatomical fluorescence information. The effects of an FGF pathway inhibitor on thyroid development were determined to be time-point-dependent.
Topics: Animals; Animals, Genetically Modified; Fibroblast Growth Factors; Humans; Image Processing, Computer-Assisted; Microscopy; Morphogenesis; Thyroid Dysgenesis; Thyroid Gland; Zebrafish
PubMed: 33735512
DOI: 10.1002/2211-5463.13150 -
Diagnostic and Interventional Radiology... 2012Ectopic thyroid tissue may be observed anywhere from the tongue base to the lower neck. It is rarely seen in the mediastinum and abdominal cavity. Computed tomography... (Review)
Review
Ectopic thyroid tissue may be observed anywhere from the tongue base to the lower neck. It is rarely seen in the mediastinum and abdominal cavity. Computed tomography and magnetic resonance imaging are very sensitive for detection and localization of ectopic thyroid tissue. This pictorial essay presents the radiological characteristics of developmental abnormalities and ectopia varieties of the thyroid gland.
Topics: Adult; Aged; Choristoma; Congenital Abnormalities; Diagnostic Imaging; Female; Humans; Incidence; Incidental Findings; Magnetic Resonance Imaging; Male; Middle Aged; Prognosis; Risk Assessment; Thyroglossal Cyst; Thyroid Dysgenesis; Thyroid Gland; Tomography, X-Ray Computed; Tongue Diseases; Ultrasonography, Doppler
PubMed: 22328282
DOI: 10.4261/1305-3825.DIR.4913-11.2 -
Medicina (Kaunas, Lithuania) Oct 2023Congenital hypothyroidism (CH) may have major detrimental effects on growth and neurological development, but early intervention leads to excellent outcomes. CH is...
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.
Topics: Infant; Pregnancy; Female; Humans; Infant, Newborn; Child; Congenital Hypothyroidism; Neonatal Screening; Thyroid Dysgenesis; Thyrotropin; Thyroxine
PubMed: 37893606
DOI: 10.3390/medicina59101887 -
Endocrinology, Diabetes & Metabolism May 2022Subclinical hypothyroidism (SCH) is the commonest thyroid abnormality in patients with Down syndrome (DS). The purpose of this study was to determine the prevalence and... (Review)
Review
BACKGROUND
Subclinical hypothyroidism (SCH) is the commonest thyroid abnormality in patients with Down syndrome (DS). The purpose of this study was to determine the prevalence and types of thyroid abnormalities, to assess the age at diagnosis, and to examine the screening practice in children with DS in a resource limited setting.
METHODOLOGY
A retrospective study was conducted in children with DS seen at endocrine follow-up clinic. Data were collected from patients' registration book and medical records.
RESULT
A total of 115 patients with DS were included in the study out of which 64 (59.8%) were males. Their median age at diagnosis was 9 months (range 4-15 years). Thyroid function test (TFT) was done at least once for 107 (93%) patients. Abnormal thyroid function was observed in 51 (47.7%) patients. The commonest thyroid abnormality was SCH (30/107, 28%) followed by congenital hypothyroidism (11/107, 10.3%), overt hypothyroidism (9/107, 8.4%) and hyperthyroidism (1/107, 0.9%). Most of the patients (86/107, 80.4%) were tested initially in the first 2 years of life. From those who were tested between the age of 2-6 months (n = 22 patients), seven (31.8%) patients had thyroid abnormalities.
CONCLUSION
Thyroid abnormalities were seen in a remarkable proportion of DS patients. The detection of abnormalities in the patients with age range of 2-6 months demands the need for additional TFT in this age category apart from the standard recommendation. Early diagnosis and management of thyroid abnormalities are important to decrease further impairment of cognition function in children with DS.
Topics: Child; Down Syndrome; Ethiopia; Female; Hospitals; Humans; Hypothyroidism; Infant; Male; Retrospective Studies; Thyroid Diseases; Thyroid Dysgenesis
PubMed: 35426257
DOI: 10.1002/edm2.337 -
Hormones (Athens, Greece) 2011
Review
Topics: Animals; Hormone Replacement Therapy; Humans; Thyroid Dysgenesis; Thyroid Gland; Thyroid Hormones
PubMed: 22281882
DOI: 10.14310/horm.2002.1317 -
Hormone Research 2008Imaging of thyroid dysfunction is safe and clinically relevant in children. In congenital hypothyroidism (CH), thyroid imaging permits a precise characterization of the... (Review)
Review
Imaging of thyroid dysfunction is safe and clinically relevant in children. In congenital hypothyroidism (CH), thyroid imaging permits a precise characterization of the aetiology, which is important for genetic counselling and clinical management. CH may be due to thyroid dysgenesis (ectopia, hypoplasia and athyrosis) or occurs in eutopic glands. In the latter, hypothyroidism may be either transient, especially after iodine overload, or due to permanent autosomal recessive dyshormonogenesis. Thyroid scintigraphy (TS) with either 99mTcO4 or 123I will identify ectopic thyroid tissue, which is the commonest cause of CH. However, recent reports favour the use of 123I, which enhances the accuracy of the aetiological classification. In cases of eutopic thyroid, the measurement of 123I uptake before and after perchlorate administration evaluates the organification process. At all ages, colour Doppler ultrasound scanning (CDU) is helpful in assessing thyroid volume, in identifying nodules and in characterizing tissue vascularization. TS and CDU images of most paediatric thyroid dysfunctions are presented.
Topics: Adolescent; Child; Child, Preschool; Congenital Hypothyroidism; Echocardiography, Doppler, Color; Female; Humans; Infant; Infant, Newborn; Male; Radionuclide Imaging; Thyroid Gland
PubMed: 18493144
DOI: 10.1159/000129672 -
International Journal of Surgery Case... May 2021Having two or more sites of simultaneous ectopic thyroid tissue is a rare phenomenon. Thyroid ectopia should be considered in congenital hypothyroidism where no eutopic...
INTRODUCTION AND IMPORTANCE
Having two or more sites of simultaneous ectopic thyroid tissue is a rare phenomenon. Thyroid ectopia should be considered in congenital hypothyroidism where no eutopic thyroid gland is found.
CASE PRESENTATION
This case describes an incidental finding of dual ectopic thyroid tissue on computer tomography scan in an adult with known congenital hypothyroidism that was previously attributed to thyroid agenesis. The decision was made to proceed with a Sistrunk procedure to excise the ectopic submental thyroid as it became more noticeable after weight loss following bariatric surgery, and to monitor the remaining lingual thyroid with a combination of clinical symptomology, imaging and thyroid function studies given its challenging location.
CLINICAL DISCUSSION
The literature on pathophysiology, imaging modalities, and common considerations for surgical extirpation is reviewed.
CONCLUSION
The utility of thyroid scintigraphy may be limited in patients with known thyroid ectopia; other investigative modalities are helpful. The Sistrunk procedure was used to excise an ectopic thyroid, based on its embryological migration from the foramen caecum to the usual pretracheal position along the thyroglossal tract, and is a suitable technique for excision of submental thyroid tissue causing an unsightly mass and where thorough histopathological examination is required to exclude malignancy.
PubMed: 33957400
DOI: 10.1016/j.ijscr.2021.105909 -
Ethiopian Journal of Health Sciences Oct 2022Ectopic thyroid gland is an uncommon disorder in which thyroid tissue is located along the line of migration, dual ectopic thyroid is a rare entity where parts of the...
BACKGROUND
Ectopic thyroid gland is an uncommon disorder in which thyroid tissue is located along the line of migration, dual ectopic thyroid is a rare entity where parts of the gland are located in two different locations.
CASE
A 14-year-old girl presented with dysphagia and odynophagia of six years duration with worsening of two weeks. Physical exam showed tongue base mass. Imaging revealed two enhancing masses at the tongue base and inferior to the hyoid bone. A diagnosis of dual ectopic thyroid was made.
CONCLUSION
Dual ectopic thyroid is a rare occurrence and proper diagnosis is essential for proper management.
Topics: Female; Humans; Adolescent; Thyroglossal Cyst; Thyroid Dysgenesis; Tomography, X-Ray Computed; Diagnosis, Differential
PubMed: 36339963
DOI: 10.4314/ejhs.v32i1.12S