congenital hypothyroidism consequences

Congenital hypothyroidism (CHT) is a condition that, if left untreated, has severe consequences. In this case we report the resolution of hypothyroidism in a newborn with nutritional and alternative treatments. In evidence-based medicine, clinical expertise, research, and patient preference are an important triad used to make clinical decisions; in this case the patient's parents preferred to begin with nutritional and alternative treatments.

INTRODUCTION: Congenital central hypothyroidism occurs either in isolation or in conjunction with other pituitary hormone deficits. Loss of function mutations in the immunoglobulin superfamily, member 1 (IGSF1) gene causes X-linked central hypothyroidism and represent the most common genetic cause of central hypothyroidism. In addition to central hypothyroidism, some patients with IGSF1 deficiency have hypoprolactinemia, transient and partial growth hormone deficiency, early/normal timing of testicular enlargement but delayed testosterone rise in puberty, and adult macro-orchidism...

BACKGROUND: Hypothyroidism is prevalent at all ages and represents a non-communicable disease with preventable consequences. METHOD: Narrative review. REVIEW: In children and adolescents, the most devastating consequences of undertreatment with levothyroxine (LT4) are poor growth and development. Delayed treatment in congenital hypothyroidism can lead to permanent brain damage. In young to middle-aged adults, symptoms are often overlooked, and treatment delayed by many years...

For more than five decades, all newborns in Germany have been offered a screening examination for the early detection of congenital treatable diseases. Since its inception, about 35 million children have been screened in this way.Originally, screening exams only included early detection of phenylketonuria, which, without timely treatment, would lead to mental retardation that could no longer be corrected. The bacteriological Guthrie test allowed the detection of elevated concentrations of phenylalanine...

Congenital hypothyroidism is one of the most common preventable endocrine disorders associated with thyroid dysgenesis or dyshormonogenesis. Thyroid peroxidase (TPO) gene defect is mainly responsible for dyshormonogenesis; a defect in the thyroid hormone biosynthesis pathway. In Bangladesh, there is limited data regarding the genetic etiology of Congenital Hypothyroidism (CH). The present study investigates the impact of the detected mutations (p.Ala373Ser, and p.Thr725Pro) on the TPO dimer protein. We have performed sequential molecular docking of H2O2 and I- ligands with both monomers of TPO dimer to understand the iodination process in thyroid hormone biosynthesis...

PURPOSE: To provide an overview of consequences of undertreatment with levothyroxine (LT4) in the common non-communicable disease, hypothyroidism. METHODS: Narrative review of the literature. RESULTS: Hypothyroidism is globally very prevalent at all age groups and represents a non-communicable disease in which the risks and consequences are preventable. In children and adolescents, the most devastating consequences of undertreatment are poor growth and development...

Herein we respond to the controversial United States Food and Drug Administration (FDA) recommendation to perform thyroid function testing in children up to 3 years of age within 3 weeks of exposure to iodinated contrast media (ICM). Considering the many effects of thyroid hormone on the cardiovascular system, the increased risk of thyroid disease in patients with congenital heart disease, the hemodynamic consequences of the Fontan circulation on the thyroid gland, and the potential clinical significance of subclinical hypothyroidism, we share our perspective that the cardiovascular effects of thyroid hormone may carry more influence for patients with single ventricle heart disease...

Congenital hypothyroidism (CH) due to thyroglobulin (TG) variants causes very low serum TG levels with normal or enlarged thyroid glands, depending on the severity of the defect, and with autosomal recessive inheritance. The purpose of this study was to functionally characterize p.Cys1281Tyr variant in the TG gene in order to increase our knowledge of the molecular mechanisms associated with CH. In order to find evidence that support the hypothesis that the p.Cys1281Tyr variant would affect the TG folding were performed amino acid prediction, 3D modeling and transient expression analysis in HEK293T cells...

Thyroid disorders constitute one of the major endocrine disorders in pediatric service. It includes a range of congenital versus acquired anatomic and/or functional thyroid diseases in growing children that has a spectrum of severity from severe intellectual disability effect to subclinical mild pathologies. This study was designed to analyze the demographic characteristics, clinical pattern, and severity of thyroid disorders in the pediatric endocrine clinic patients at the teaching hospital of the university over a 7-year duration...

Thyroglobulin (TG), the predominant glycoprotein of the thyroid gland, functions as matrix protein in thyroid hormonegenesis. TG deficiency results in thyroid dyshormonogenesis. These variants produce a heterogeneous spectrum of congenital goitre, with an autosomal recessive mode of inheritance. The purpose of this study was to identify and functionally characterize new variants in the TG gene in order to increase the understanding of the molecular mechanisms responsible for thyroid dyshormonogenesis. A total of four patients from two non-consanguineous families with marked alteration of TG synthesis were studied...

The thyroid operates within a complex system of homeostatic regulation, where the level of thyrotropin (TSH) influences the rate of secretion of the principal thyroid hormones, thyroxine (T4) and triiodothyronine (T3). The devastating consequences of untreated thyroid dysfunction have been evident for centuries. Indeed, sources from antiquity described goitre and cretinism, two of the clinical sequelae of untreated overt thyroid disease. It was not until the first part of the 19th century that goitre and cretinism were first associated with iodine status; however, the endocrine function of the thyroid was not clearly identified until the early part of the 20th century...

Paired box transcription factor 8 ( PAX8 ) is essential for thyroid organogenesis and development. Heterozygous pathogenic variants of PAX8 typically cause congenital hypothyroidism (CH) due to thyroid hypoplasia. Additionally, pathogenic PAX8 variants have been identified in patients with gland in situ (GIS). This study was conducted to analyze the in vitro functional consequences of four PAX8 variants (p.D94N, p.E90del, p.V58I, and p.L186Hfs*22) previously identified in patients with CH and GIS. The transcriptional activity of PAX8 variants on the thyroglobulin ( TG ) promoter was assessed in a luciferase reporter assay...

OBJECTIVE: This study aimed to investigate the psychosocial impact of the pandemic in pediatric patients with congenital adrenal hyperplasia and their families and whether congenital adrenal hyperplasia imposes an additional burden compared to other endocrine disorders. MATERIALS AND METHODS: Patients with congenital adrenal hyperplasia (n = 38) and congenital hypothyroidism (n = 41) and their families were enrolled in the prospective longitudinal survey study...

Congenital hypothyroidism (CH) occurs with a relatively alarming prevalence in infants, and if not diagnosed and treated in time, it can have devastating consequences for the development of the nervous system. CH is associated with genetic changes in several genes that encode transcription factors responsible for thyroid development, including mutations in the NK2 homeobox 1 (NKX2.1) gene, which encodes the thyroid transcription factor-1 (TTF-1). Although CH is frequently observed in pediatric populations, there is still a limited understanding of the genetic factors and molecular mechanisms contributing to this disease...

Thyroid hormones (TH) regulate growth, nervous system myelination, metabolism, and physiologic functions in nearly every organ system. Congenital hypothyroidism (CH) is one of the most common endocrinopathies in children and has potentially devastating neurologic and developmental consequences. The etiology and clinical manifestations of hypothyroidism in children differ from adults. And hence, pediatric medical care requires a detailed understanding of thyroid function and dysfunction in children. The perinatal risk factors include female sex, preterm birth, low birth weight, postmature birth, additional birth abnormalities, and being delivered in multiple births...

Neonatal screening for congenital hypothyroidism (CH) is based on the measurement of thyroid-stimulating hormone (TSH) in whole dried blood samples on filter paper in all newborns. The objective of screening for CH is to prevent mental retardation, which is irreversible in the event of a late diagnosis, by setting up prompt treatment (before day 15) with levothyroxine. The threshold value of TSH on filter paper on day 3 is 17 mIU/L in France in the GSP method (GSP, Genetic Screening Processor, Perkin Elmer): It is one of the highest thresholds used in the world...

Thanks to comprehensive and long-term preventive programs, the Czech Republic has taken its place among the countries with a resolved iodine deficiency at all population levels since 2004. A sensitive indicator of iodine supply to the population, which can also be used to monitor the efficiency of prophylactic programs, is the TSH assessment in the nationwide neonatal screening of congenital hypothyroidism. Nevertheless, recent results of neonatal TSH show that newborns and pregnant women remain very risky groups and their iodine saturation is borderline...

Pierson syndrome (PIERSS) is a rare autosomal recessive disorder characterized by the combination of congenital nephrotic syndrome (CNS) and extrarenal symptoms including ocular malformations and neurodevelopmental deficits. PIERSS is caused by biallelic pathogenic variants in the LAMB2 gene leading to the defects of β2-laminin, the protein mainly expressed in the glomerular basement membrane, ocular structures, and neuromuscular junctions. Severe complications of PIERSS lead to the fatal outcome in early childhood in majority of the cases...

BACKGROUND: The level of iodine consumption by the population largery determines the spectrum of thyroid pathology. To date, in the Russian Federation, iodine-deficiency disorders (IDD) occupy a leading position in the structure of all thyroid diseases. Chronic ID leads to adverse health consequences and significant economic costs for their elimination on a national scale. However, the spectrum of thyroid pathology is not limited to the problem of ID, and the study of other thyroid diseases is also of interest...

CONTEXT: Iodide transport defect (ITD) (Online Mendelian Inheritance in Man #274400) is an uncommon cause of dyshormonogenic congenital hypothyroidism due to loss-of-function variants in the SLC5A5 gene, which encodes the sodium/iodide symporter (NIS), causing deficient iodide accumulation in thyroid follicular cells. OBJECTIVE: To determine the molecular basis of a patient´s ITD clinical phenotype. PATIENT: The propositus was diagnosed with dyshormonogenic congenital hypothyroidism with minimal 99mTc-pertechnetate accumulation in a eutopic thyroid gland...