Congenital Hypothyroidism

2021 ◽  
Vol 40 (6) ◽  
pp. 377-385
Author(s):  
Jacqueline Brady ◽  
Ashton Cannupp ◽  
Jordan Myers ◽  
Amy J. Jnah
Keyword(s):  
Thyroid Hormone ◽  
Congenital Hypothyroidism ◽  
Disease Process ◽  
The United States ◽  
Hormone Deficiency ◽  
Hormone Production ◽  
Newborn Screen ◽  
Neurocognitive Outcomes ◽  
Thyroid Development ◽  
Overall Mortality

Congenital hypothyroidism (CH) is a disorder of thyroid hormone deficiency which develops secondary to incomplete thyroid development or inadequate thyroid hormone production. State-mandated newborn screening throughout the United States has increased the detection rate of CH, allowing for early intervention. Although the overall mortality rate of CH is low, delayed or omitted treatment can lead to devastating neurocognitive outcomes. As such, CH is regarded as the leading cause of preventable intellectual disability in children. Early identification, facilitated by astute neonatal nursing and medical care, is contingent upon an active working knowledge of the disease process and awareness of the limitations of the newborn screen.

scholarly journals Thyroid Gene Mutations in Pregnant and Breastfeeding Women Diagnosed With Transient Congenital Hypothyroidism: Implications for the Offspring’s Health

2021 ◽  
Vol 12 ◽  
Author(s):  
Maria C. Opazo ◽  
Juan Carlos Rivera ◽  
Pablo A. Gonzalez ◽  
Susan M. Bueno ◽  
Alexis M. Kalergis ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Thyroid Hormones ◽  
Congenital Hypothyroidism ◽  
Gene Mutations ◽  
Genetic Variations ◽  
Hormone Deficiency ◽  
Iodide Transport ◽  
Transport Defect ◽  
Pregnancy And Lactation ◽  
Transient Congenital Hypothyroidism

Fetus and infants require appropriate thyroid hormone levels and iodine during pregnancy and lactation. Nature endorses the mother to supply thyroid hormones to the fetus and iodine to the lactating infant. Genetic variations on thyroid proteins that cause dyshormonogenic congenital hypothyroidism could in pregnant and breastfeeding women impair the delivery of thyroid hormones and iodine to the offspring. The review discusses maternal genetic variations in thyroid proteins that, in the context of pregnancy and/or breastfeeding, could trigger thyroid hormone deficiency or iodide transport defect that will affect the proper development of the offspring.

pax2.1is required for the development of thyroid follicles in zebrafish

Development ◽  
2002 ◽  
Vol 129 (15) ◽  
pp. 3751-3760 ◽  
Author(s):  
Thomas Wendl ◽  
Klaus Lun ◽  
Marina Mione ◽  
Jack Favor ◽  
Michael Brand ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Thyroid Gland ◽  
Marker Gene ◽  
Follicular Cells ◽  
Hormone Production ◽  
Zebrafish Model ◽  
Hormone Synthesis ◽  
Larval Stages ◽  
Thyroid Follicular Cells ◽  
Thyroid Development

The thyroid gland is an organ primarily composed of endoderm-derived follicular cells. Although disturbed embryonic development of the thyroid gland leads to congenital hypothyroidism in humans and mammals, the underlying principles of thyroid organogenesis are largely unknown. In this study, we introduce zebrafish as a model to investigate the molecular and genetic mechanisms that control thyroid development. Marker gene expression suggests that the molecular pathways of early thyroid development are essentially conserved between fish and mammals. However during larval stages, we find both conserved and divergent features of development compared with mammals. A major difference is that in fish, we find evidence for hormone production not only in thyroid follicular cells, but also in an anterior non-follicular group of cells.We show that pax2.1 and pax8, members of the zebrafish pax2/5/8 paralogue group, are expressed in the thyroid primordium. Whereas in mice, only Pax8 has a function during thyroid development, analysis of the zebrafish pax2.1 mutant no isthmus (noi–/–) demonstrates that pax2.1 has a role comparable with mouse Pax8 in differentiation of the thyroid follicular cells. Early steps of thyroid development are normal in noi–/–, but later expression of molecular markers is lost and the formation of follicles fails. Interestingly, the anterior non-follicular site of thyroid hormone production is not affected in noi–/–. Thus, in zebrafish, some remaining thyroid hormone synthesis takes place independent of the pathway leading to thyroid follicle formation. We suggest that the noi–/– mutant serves as a new zebrafish model for hypothyroidism.

scholarly journals Primary congenital hypothyroidism: defects in iodine pathways

2003 ◽  
pp. 247-256 ◽  
Author(s):  
JJ de Vijlder
Keyword(s):  
Thyroid Hormone ◽  
Thyroid Gland ◽  
Congenital Hypothyroidism ◽  
Primary Hypothyroidism ◽  
Special Importance ◽  
Hormone Production ◽  
Central Hypothyroidism ◽  
Hormone Synthesis ◽  
Diagnosis And Classification ◽  
The Central Nervous System

The thyroid gland is the only source of thyroid hormone production. Thyroid hormone is essential for growth and development, and is of special importance for the development of the central nervous system. It was for that reason that neonatal screening on congenital hypothyroidism was introduced and is now performed in many countries. Defects in thyroid hormone production are caused by several disorders in hormone synthesis and in the development of the thyroid gland (primary hypothyroidism) or of the pituitary gland and hypothalamus (central hypothyroidism).This paper describes defects in the synthesis of thyroid hormone caused by disorders in the synthesis or iodination of thyroglobulin, leakage of iodinated proteins by a stimulated thyroid gland and the presence of abnormal iodoproteins, mainly iodinated albumin, in the thyroid gland and blood circulation. Circulating thyroglobulin and abnormal iodoproteins, as well as the breakdown products of these iodoproteins excreted in urine, are used for etiological diagnosis and classification. Moreover, our finding of an enzyme that catalyses the dehalogenation of iodotyrosines, which is important for iodine recycling and required for economical use of iodine, is also referred to.

scholarly journals Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism

2004 ◽  
Vol 48 (1) ◽  
pp. 70-82 ◽  
Author(s):  
Jussara Vono-Toniolo ◽  
Peter Kopp
Keyword(s):  
Thyroid Hormone ◽  
Congenital Hypothyroidism ◽  
Early Recognition ◽  
Wide Spectrum ◽  
Hormone Deficiency ◽  
Follicular Cells ◽  
Thyroid Dysgenesis ◽  
Hormone Synthesis ◽  
Screening Programs ◽  
Thyroid Follicular Cells

Congenital hypothyroidism affects about 1:3000-1:4000 infants. Screening programs now permit early recognition and treatment, thus avoiding the disastrous consequences of thyroid hormone deficiency on brain development. In about 85%, congenital hypothyroidism is associated with developmental defects referred to as thyroid dysgenesis. They include thyroid (hemi)agenesis, ectopic tissue and thyroid hypoplasia. Thyroid dysgenesis is usually sporadic; in only 2% it occurs in a familial fashion. It can be caused by mutations in transcription factors that are essential for the development and function of thyroid follicular cells. Thyroid hypoplasia can also result from resistance to TSH at the level of the thyrocytes. Defects in the steps required for thyroid hormone synthesis within thyroid follicular cells are referred to as dyshormonogenesis and account for about 10-15% of congenital hypothyroidism. In contrast to thyroid dysgenesis, affected patients typically present with goitrous enlargement of the thyroid. The defects leading to dyshormonogenesis typically display a recessive mode of inheritance. Careful clinical, biochemical and molecular analyses of patients with syndromic and non-syndromic forms of thyroid dysgenesis and dyshormonogenesis have significantly enhanced our understanding of the wide spectrum of pathogenetic mechanisms underlying congenital hypothyroidism and provide unique insights into the (patho)physiology of thyroid development and hormone synthesis.

Visuospatial Associative Memory and Hippocampal Functioning in Congenital Hypothyroidism

2011 ◽  
Vol 18 (1) ◽  
pp. 49-56 ◽  
Author(s):  
Sarah M. Wheeler ◽  
Mary Pat McAndrews ◽  
Erin D. Sheard ◽  
Joanne Rovet
Keyword(s):  
Thyroid Hormone ◽  
Congenital Hypothyroidism ◽  
Memory Task ◽  
Group Differences ◽  
Visuospatial Memory ◽  
Functional Magnetic Resonance ◽  
Hormone Production ◽  
Memory Problems ◽  
Age Range ◽  
Hippocampal Structure

AbstractCongenital hypothyroidism is a pediatric endocrine disorder caused by insufficient endogenous thyroid hormone production. Children with congenital hypothyroidism have difficulties with episodic memory and abnormalities in hippocampal structure, suggesting deficient hippocampal functioning. To assess hippocampal activation in adolescents with congenital hypothyroidism (N= 14; age range, 11.5–14.7 years) compared with controls (N= 15; age range, 11.2–15.5 years), a functional magnetic resonance imaging visuospatial memory task was used. In this task, participants had to decide if object pairings were novel or were previously studied or if object pairs were in the same location as they were at study or had switched locations. Despite no group differences in task performance, adolescents with congenital hypothyroidism showed both increased magnitude of hippocampal activation relative to controls and bilateral hippocampal activation when only the left was observed in controls. Furthermore, the increased activation in the congenital hypothyroidism group was correlated with the severity of the hypothyroidism experienced early in life. These results suggest that perinatal deprivation of thyroid hormone has longstanding effects on hippocampal function and may account for memory problems experienced by adolescents with congenital hypothyroidism. (JINS, 2012,18, 49–56)

scholarly journals Congenital Hypothyroidism and Brain Development: Association With Other Psychiatric Disorders

2021 ◽  
Vol 15 ◽  
Author(s):  
Katsuya Uchida ◽  
Mao Suzuki
Keyword(s):  
Thyroid Hormone ◽  
Brain Development ◽  
Psychiatric Disorders ◽  
Congenital Hypothyroidism ◽  
Synapse Formation ◽  
Animal Experiments ◽  
Perinatal Period ◽  
Epidemiological Studies ◽  
Iodine Intake ◽  
Hormone Deficiency

Thyroid hormones play an important role in brain development, and thyroid hormone insufficiency during the perinatal period results in severe developmental delays. Perinatal thyroid hormone deficiency is clinically known as congenital hypothyroidism, which is caused by dysgenesis of the thyroid gland or low iodine intake. If the disorder is not diagnosed or not treated early, the neuronal architecture is perturbed by thyroid hormone insufficiency, and neuropathological findings, such as abnormal synapse formation, defects in neuronal migration, and impairment of myelination, are observed in the brains of such patients. Furthermore, the expression of psychiatric disorder-related molecules, especially parvalbumin, is significantly decreased by thyroid hormone insufficiency during the perinatal period. Animal experiments using hypothyroidism models display decreased parvalbumin expression and abnormal brain architecture, and these experimental results show reproducibility and stability. These basic studies reinforce the results of epidemiological studies, suggesting the relevance of thyroid dysfunction in psychiatric disorders. In this review, we discuss the disruption of brain function associated with congenital hypothyroidism from the perspective of basic and clinical research.

scholarly journals A retrospective study of thyroid hormone in Pediatrics: relationships with growth hormone correlation with effects of diabetes in Riyadh, Saudi Arabia

2021 ◽  
Vol 20 (11) ◽  
Author(s):  
Faisal Mujeb Alshareef ◽  
Abdullah Hamad Alfaris ◽  
Nouryah Abdulaziz Alhafez ◽  
Alanoud Saleh Albulosh ◽  
Abdulaziz Mshaal Aljuhni ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Saudi Arabia ◽  
Retrospective Study ◽  
Thyroid Hormone ◽  
Growth Hormone Deficiency ◽  
Blood Sugar ◽  
Congenital Hypothyroidism ◽  
Blood Sugar Level ◽  
Hormone Deficiency ◽  
Control Group

Background: Inadequate Thyroid Hormone at birth in newborns is known as Congenital Hypothyroidism (CH) and it has a critical role in their growth and brain development. As a result, untreated CH and abnormal GH/IGF1 levels can lead to failure to thrive, osteoporosis, and Diabetic Retinopathies, among other problems. This retrospective study examines the chances of developing growthhormone disruption and Diabetes Mellitus in patients diagnosed with Congenital Hypothyroidism at the Security Forces Hospital in Riyadh, Saudi Arabia. Methodology: A retrospective chart review of growth hormone deficient (GHD) patients was done at the security force hospital in Riyadh, Saudi Arabia. The data was collected from the medical records of the patients. The study included all patients with growth hormone deficiency (GHD) who had complete clinical, diagnostic and treatment data. Result: At the beginning of the research, 287 growth hormone-deficient (GHD) children ranging in age from 1 to 15 years old were evaluated for diabetes. A total of 151 (52.6%) of the 287 patients got levothyroxine therapy, while the remaining 136 (47.4%) did not (control group). Because the p-value <0.05 (t(149) = 1.165, p = 0.246), the mean difference in blood sugar level changes is not statistically significant (t(149) = 1.165, p = 0.246). Conclusion: We found that levothyroxine therapy has no discernible effect on blood sugar level fluctuations in males and females. Key words: Growth hormone deficiency, Kingdom of Saudi Arabia, Diabetes.

Mosquito and Tick-borne Illnesses in the United States. Guidelines for the Recognition and Empiric Treatment of Zoonotic Diseases in the Wilderness.

2019 ◽  
Vol 19 (3) ◽  
pp. 238-257
Author(s):  
Suresh Antony
Keyword(s):  
United States ◽  
Lyme Disease ◽  
Spotted Fever ◽  
Disease Process ◽  
Rocky Mountain ◽  
The United States ◽  
Health Care Facilities ◽  
Diagnostic Tools ◽  
Rocky Mountain Spotted Fever ◽  
Number Of Patients

Background:In the United States, tick-borne illnesses account for a significant number of patients that have been seen and treated by health care facilities. This in turn, has resulted in a significant morbidity and mortality and economic costs to the country.Methods:The distribution of these illnesses is geographically variable and is related to the climate as well. Many of these illnesses can be diagnosed and treated successfully, if recognized and started on appropriate antimicrobial therapy early in the disease process. Patient with illnesses such as Lyme disease, Wet Nile illness can result in chronic debilitating diseases if not recognized early and treated.Conclusion:This paper covers illnesses such as Lyme disease, West Nile illness, Rocky Mountain Spotted fever, Ehrlichia, Tularemia, typhus, mosquito borne illnesses such as enteroviruses, arboviruses as well as arthropod and rodent borne virus infections as well. It covers the epidemiology, clinical features and diagnostic tools needed to make the diagnosis and treat these patients as well.

Telemedicine for Patients with Inflammatory Bowel Disease (TELE-IBD) Clinical Trial: Qualitative Assessment of Participants’ Perceptions of the TELE-IBD Intervention (Preprint)

2019 ◽  
Author(s):  
Charlene C Quinn ◽  
Sarah Chard ◽  
Erin G Roth ◽  
J. Kevin Eckert ◽  
Katharine M Russman ◽  
...  
Keyword(s):  
Clinical Trial ◽  
Disease Activity ◽  
Remote Monitoring ◽  
Standard Care ◽  
Disease Process ◽  
The United States ◽  
Qualitative Assessment ◽  
Structured Interviews ◽  
Treatment Groups ◽  
Inflammatory Bowel

BACKGROUND Inflammatory bowel diseases (IBD), comprising Crohn’s disease and ulcerative colitis, affects 1 to 3 million people in the United States. Telemedicine has shown promise in IBD. The objective of the parent study, TELE-IBD, was to compare disease activity and quality of life (QoL) in a one-year randomized clinical trial of IBD patients receiving telemedicine versus standard care. Treatment groups experienced improvements in disease activity and QoL but there was not significant differences between groups. Study adherence to the text-based intervention was less than the 80% of the targeted goal. OBJECTIVE To understand adherence to remote monitoring, the goal of this qualitative assessment was to obtain TELE-IBD trial participants’ perceptions of the TELE-IBD system, including their recommendations for future TELE-IBD monitoring. METHODS In the parent study, patients attending three tertiary referral centers with worsening IBD symptoms in the previous two years were eligible for randomization to remote monitoring via texts every other week (EOW), weekly (W) or standard care. Participants (n=348) were evenly enrolled in the treatment groups and 259 (74.4%) completed the study. For this study, a purposive sample of adherent (N=15) and non-adherent (N=14) patients was drawn from the TELE-IBD trial population. Adherence was defined as the completion of 80% or more of the W or EOW self-assessments. Semi-structured interviews conducted by phone surveyed 1) the strengths and benefits of TELE-IBD; 2) challenges associated with using TELE-IBD; and 3) how to improve the TELE-IBD intervention. Interviews were recorded, professionally transcribed, and coded based on a priori concepts and emergent themes with the aid of ATLAS.ti qualitative data analysis software. RESULTS Participants' discussions centered on three elements of the intervention: 1) self-assessment questions, 2) action plans, and 3) educational messages. Participants also commented on: text-based platform, depression and adherence, TELE-IBD system in place of office visit, and their recommendations for future TELE-IBD systems. Adherent and non-adherent participants prefer a flexible system that is personalized, including targeted education messages, and they perceive TELE-IBD as effective in facilitating IBD self-management. CONCLUSIONS Participants identified clear benefits to the TELE-IBD system, including obtaining a better understanding of the disease process, monitoring their symptoms, and feeling connected to their health care provider. Participants' perceptions obtained in this qualitative study will assist in improving the TELE-IBD system to be more responsive to patients with IBD. CLINICALTRIAL NCT01692743

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