6,638 results match your criteria congenital hypothyroidism

Central Precocious Puberty in a Boy with Pseudohypoparathyroidism Type 1A due to a Novel Variant, Who Had Congenital Hypothyroidism as the First Manifestation.

J Clin Res Pediatr Endocrinol 2021 Jul 30. Epub 2021 Jul 30.

Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

Pseudohypoparathyroidism type 1A (PHP1A) is a disorder of multiple hormone resistance, mainly parathyroid hormone. It is associated with Albright hereditary osteodystrophy phenotypes. Patients with PHP1A may initially present with hypothyroidism during infancy and later develop typical PHP1A characteristics during their childhood. Read More

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Geographic variations in the incidence of congenital hypothyroidism in China: a retrospective study based on 92 million newborns screened in 2013-2018.

Chin Med J (Engl) 2021 Jul 22. Epub 2021 Jul 22.

National Office for Maternal and Child Health Surveillance of China, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, China National Center for Birth Defects Monitoring, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, China Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, China Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, China. Department of Obsterics, Sichuan Birth Defects Clinical Research Center, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, China.

Background: Although congenital hypothyroidism (CH) has been widely studied in Western countries, CH incidence at different administrative levels in China during the past decade remains unknown. This study aimed to update the incidence and revealed the spatial pattern of CH incidence in the mainland of China, which could be helpful in the planning and implementation of preventative measures.

Methods: The data used in our study were derived from 245 newborns screening centers that cover 30 provinces of the Chinese Newborn Screening Information System. Read More

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A systematic review of the outcomes of false-positive results on newborn screening for congenital hypothyroidism.

Clin Endocrinol (Oxf) 2021 Jul 23. Epub 2021 Jul 23.

Department of Paediatric Endocrinology, Northern Clinical School, Royal North Shore Hospital, University of Sydney, Camperdown, New South Wales, Australia.

Objectives: The potential of harm to infants or their parents from a false positive (FP) newborn screening (NBS) result for congenital hypothyroidism (CH) is often cited as an argument against lowering of screening thresholds for CH. This systematic review (SR) examines the evidence of harm and factors that possibly contribute.

Study Design: PRISMA guidelines were followed and the protocol was registered online (Prospero, ID CRD42019123950, 20 August 2019) before the search was conducted. Read More

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Cytomorphologic analysis of dyshormonogenetic goiter.

Diagn Cytopathol 2021 Jul 20. Epub 2021 Jul 20.

Dr. Bhalekar's Pathology Laboratory, Navi Mumbai, India.

Dyshormonogenetic goiter is a rare cause for congenital hypothyroidism because of the lack of enzymes needed for the synthesis of thyroid hormones. They are usually treated with hormonal treatment. Cytomorphological features can lead to misdiagnosis of malignancy. Read More

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Dysfunction of the Auditory System in Children With Hypothyroidism: A Systematic Review and Meta-Analysis.

Ear Hear 2021 Jul 16. Epub 2021 Jul 16.

Department of Otolaryngology - Head and Neck Surgery, Medical University of South Carolina, Charleston, South Carolina, U.S.A.

Objective: To examine the prevalence of hearing impairment in children with hypothyroidism, and to characterize clinical and subclinical hearing loss by examining cochlear function, auditory brainstem pathways, and integration of the auditory system as a whole.

Design: An electronic search was conducted using PubMed, Scopus, and Cochrane Library databases. This systematic review was performed in accordance with the PRISMA guidelines. Read More

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Analysis of Mutation Spectra of 28 Pathogenic Genes Associated With Congenital Hypothyroidism in the Chinese Han Population.

Front Endocrinol (Lausanne) 2021 2;12:695426. Epub 2021 Jul 2.

Section of Endocrinology, Department of Pediatrics, Shenzhen Maternity and Child Healthcare Hospital, Southern Medical University, Shenzhen, China.

Purpose: Congenital hypothyroidism (CH) is the most common neonatal endocrine disease; its early detection ensures successful treatment and prevents complications. However, its molecular etiology remains unclear.

Methods: We used second-generation sequencing to detect 28 pathogenic genes in 15 Chinese Han patients with CH in Shenzhen, China, and analyzed the genetic pattern of the pathogenic genes through their pedigrees. Read More

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Family history of thyroid disease and risk of congenital hypothyroidism in neonates with Down síndrome.

Gac Med Mex 2021 ;157(2):133-139

Neonatology Department, Pediatrics Division, Hospital Civil de Guadalajara "Dr. Juan I. Menchaca". Guadalajara, Jalisco, Mexico.

Introduction: Family history of thyroid disease (FHTD) constitutes a possible risk factor for congenital hypothyroidism (CH) in the general population; however, FHTD possible relationship with CH in subjects with Down syndrome (DS) has not yet been explored.

Objective: To determine whether FHTD is associated with an increased incidence of CH in neonates with DS.

Method: Hospital-based case-control study in 220 neonates with DS. Read More

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January 2021

COVID-19 infection in pregnancy: a single center experience with 75 cases.

Ginekol Pol 2021 Jul 15. Epub 2021 Jul 15.

Department of Obstetrics and Gynecology, Sanliurfa Training and Research Hospital, Sanliurfa, Turkey.

Objectives: This study aimed to summarize the clinical features, maternal, fetal, and perinatal outcomes of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) proven infections of pregnancies.

Material And Methods: This retrospective single center study was conducted on 75 pregnant patients diagnosed of coronavirus disease 2019 (COVID-19). Demographic characteristics, clinical courses, laboratory and radiological findings, and maternal and perinatal outcomes were analyzed using medical records. Read More

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Neonatal appendicitis: how many sides does this coin have?

Cir Pediatr 2021 Jul 1;34(3):143-146. Epub 2021 Jul 1.

Pediatric Surgery Department, San Carlos Clinical University Hospital. Madrid (Spain).

Neonatal appendicitis is a very rare entity associated with immune, vascular, hypoxic, and obstructive factors. We present two cases of neonatal appendicitis with different characteristics. The first case is a 15-day-old newborn with congenital hypothyroidism who had abdominal distension and sepsis data. Read More

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Transcriptomic Signature of Human Embryonic Thyroid Reveals Transition From Differentiation to Functional Maturation.

Front Cell Dev Biol 2021 11;9:669354. Epub 2021 Jun 11.

School of Medicine, IRIBHM, Université libre de Bruxelles, Brussels, Belgium.

The human thyroid gland acquires a differentiation program as early as weeks 3-4 of embryonic development. The onset of functional differentiation, which manifests by the appearance of colloid in thyroid follicles, takes place during gestation weeks 10-11. By 12-13 weeks functional differentiation is accomplished and the thyroid is capable of producing thyroid hormones although at a low level. Read More

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Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis.

Front Endocrinol (Lausanne) 2021 24;12:657913. Epub 2021 Jun 24.

Inserm UMR 1048, Institute of Metabolic and Cardiovascular Diseases (I2MC), Toulouse, France.

Context: Congenital hypothyroidism (CH) is related to dyshormonogenesis in 15% to 40% of the world population and associated with homozygous or heterozygous variants in the main genes of the hormone synthesis pathway. Emerging diagnostic tools, such as next-generation sequencing (NGS), have been used to efficiently explore panels of genes and identify complex mechanisms of pathogenesis.

Objective: We explored 19 candidate genes known to be causative for permanent or transient CH to evaluate the role of complex gene variations in CH phenotype. Read More

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Screening of frequent variants associated with congenital hypothyroidism: a comparison with next generation sequencing.

Endocr J 2021 Jul 8. Epub 2021 Jul 8.

Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi 409-3898, Japan.

Congenital hypothyroidism (CH) is considered the most common congenital endocrine disorder of genetic origin. Next generation sequencing (NGS) is the standard method for identifying genetic mutations, but it is an expensive and complex technique. Therefore, we propose to use Sanger sequencing to identify selected variants of the four most common CH-causative genes: DUOX2, TG, TSHR, and PAX8. Read More

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Congenital isolated central hypothyroidism: Novel mutations and their functional implications.

Handb Clin Neurol 2021 ;180:161-169

Department of Endocrinology and Metabolism, Amsterdam Gastroenterology, Endocrinology, and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands. Electronic address:

Congenital hypothyroidism is the most frequent endocrine disorder in newborns, occurring in 1 per 3000-4000 newborns. In the Netherlands, the neonatal screening program is based primarily on heel prick thyroxine (T4). In contrast to thyroid-stimulating hormone-based programs, this approach allows for the detection of both primary and central congenital hypothyroidism. Read More

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Evaluation of the developmental outcome in children with congenital hypothyroidism.

Caspian J Intern Med 2021 Apr;12(3):315-322

Student Research Committee, Babol University of Medical Sciences, Babol, Iran.

Background: Congenital hypothyroidism (CH) is one of the most common endocrine diseases and one of the major causes of mental retardation in children. So we aimed to evaluate the developmental outcome of children with CH.

Methods: This case-control study was performed on two 3-6-year-old groups of 100 patients. Read More

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Case Report: Functional Analysis and Neuropsychological Evaluation of Dyshormonogenetic Fetal Goiter in Siblings Caused by Novel Compound Hyterozygous TPO Gene Mutations.

Front Endocrinol (Lausanne) 2021 18;12:671659. Epub 2021 Jun 18.

Thyroid Molecular Science Laboratory, Department of Biological Sciences, Federal University of São Paulo, Federal University of São Paulo (UNIFESP), Diadema, Brazil.

Introduction: It is rare for a euthyroid mother to carry a child with a fetal goiter. However, cases of congenital hypothyroidism (CH) caused by thyroid dyshormonogenesis have been reported. Even though gene mutations associated with fetal goiter have been reported in a few studies, the effects on intellectual development have not been investigated. Read More

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Thyroid Hormone Function in Small for Gestational Age Term Newborns.

J Pediatr 2021 Jun 29. Epub 2021 Jun 29.

Department of Pediatrics, University of Wisconsin-Madison, Madison, WI.

Objective: To test the hypothesis that term small for gestational age (SGA) neonates exhibit higher thyroid-stimulating hormone (TSH) concentrations and an increased incidence of congenital hypothyroidism.

Study Design: This retrospective cohort study included all term neonates screened in Wisconsin in 2015 and 2016. The cohort was divided based on SGA status, defined as birth weight percentile <10 calculated from WHO 0-2 years sex-specific growth charts. Read More

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Thyroid Function in Preterm/Low Birth Weight Infants: Impact on Diagnosis and Management of Thyroid Dysfunction.

Front Endocrinol (Lausanne) 2021 15;12:666207. Epub 2021 Jun 15.

Department of Pediatrics, Doernbecher Children's Hospital, Oregon Health & Sciences University, Portland, OR, United States.

Maternal thyroid hormone crosses the placenta to the fetus beginning in the first trimester, likely playing an important role in fetal development. The fetal thyroid gland begins to produce thyroid hormone in the second trimester, with fetal serum T4 levels gradually rising to term. Full maturation of the hypothalamic-pituitary-thyroid (HPT) axis does not occur until term gestation or the early neonatal period. Read More

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Thirty-Year Lessons from the Newborn Screening for Congenital Adrenal Hyperplasia (CAH) in Japan.

Int J Neonatal Screen 2021 Jun 29;7(3). Epub 2021 Jun 29.

Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo 113-8510, Japan.

Congenital adrenal hyperplasia (CAH) is an inherited disorder caused by the absence or severely impaired activity of steroidogenic enzymes involved in cortisol biosynthesis. More than 90% of cases result from 21-hydroxylase deficiency (21OHD). To prevent life-threatening adrenal crisis and to help perform appropriate sex assignments for affected female patients, newborn screening (NBS) programs for the classical form of CAH have been introduced in numerous countries. Read More

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Newborn Screening for Congenital Hypothyroidism in Japan.

Int J Neonatal Screen 2021 Jun 28;7(3). Epub 2021 Jun 28.

Department of Pediatrics, Teikyo University Chiba Medical Center, Chiba 299-0111, Japan.

Congenital hypothyroidism (CH) is the most common preventable cause of intellectual impairment or failure to thrive by early identification and treatment. In Japan, newborn screening programs for CH were introduced in 1979, and the clinical guidelines for newborn screening of CH were developed in 1998, revised in 2014, and are currently undergoing further revision. Newborn screening strategies are designed to detect the elevated levels of thyroid stimulating hormone (TSH) in most areas of Japan, although TSH and free thyroxine (FT4) are often measured simultaneously in some areas. Read More

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First Experiences with Newborn Screening for Congenital Hypothyroidism in Ulaanbaatar, Mongolia.

Int J Neonatal Screen 2021 Jun 7;7(2). Epub 2021 Jun 7.

Department of Pediatrics, School of Medicine, Mongolian National University of Medical Sciences, Ulaanbaatar 14210, Mongolia.

Congenital hypothyroidism (CH) is among the most common conditions leading to intellectual disability, which can be prevented by early detection through newborn screening (NBS). In Mongolia, a regional screening program for CH was launched in 2000, which was supported by the International Atomic Energy Agency (IAEA) for the Asia Pacific Region. In our present study, a total of 23,002 newborns from nine districts in Ulaanbaatar were screened between 2012 and 2020, by the measurement of the thyroid-stimulating hormone (TSH) from dried blood spots, sampled 24 to 72 h after birth. Read More

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Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.

Kyung-Sun Park

Genes (Basel) 2021 Jun 4;12(6). Epub 2021 Jun 4.

Department of Laboratory Medicine, Kyung Hee University School of Medicine and Kyung Hee University Medical Center, Seoul 02447, Korea.

To assess how genomic information of the general population reflects probabilities of developing diseases and the differences in those probabilities among ethnic groups, a general population database was analyzed with an example of congenital hypothyroidism. Twelve candidate genes that follow an autosomal recessive inheritance pattern in congenital hypothyroidism (, , , , , , , , , ) in the gnomAD database (v2.1. Read More

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Rescue of Neurological Development in Congenital Hypothyrodism: We Should Leave no Stone Unturned.

Luca Persani

J Clin Endocrinol Metab 2021 Jul 1. Epub 2021 Jul 1.

Department of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy.

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The PDZ protein SCRIB regulates sodium/iodide symporter (NIS) expression at the basolateral plasma membrane.

FASEB J 2021 08;35(8):e21681

Departamento de Bioquímica Clínica, Facultad de Ciencias Químicas, Universidad Nacional de Córdoba, Córdoba, Argentina.

The sodium/iodide symporter (NIS) expresses at the basolateral plasma membrane of the thyroid follicular cell and mediates iodide accumulation required for normal thyroid hormonogenesis. Loss-of-function NIS variants cause congenital hypothyroidism due to impaired iodide accumulation in thyroid follicular cells underscoring the significance of NIS for thyroid physiology. Here we report novel findings derived from the thorough characterization of the nonsense NIS mutant p. Read More

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Myxedema Coma: Case Report and Literature Review.

Cureus 2021 May 27;13(5):e15277. Epub 2021 May 27.

Internal Medicine, Rutgers-New Jersey Medical School/Trinitas Regional Medical Center, Elizabeth, USA.

Myxedema coma is a life-threatening manifestation of hypothyroidism associated with altered mental status, hypothermia, and symptoms related to the slowing of other organ systems. It can occur as a culmination of severe, longstanding hypothyroidism or be precipitated by acute stressors such as infection, myocardial infarction, cold exposure, and surgery in patients with poorly controlled hypothyroidism. Given the high mortality rate and acuity with which the disease presents, treatment with thyroid hormone replacement should be initiated upon suspicion of the disease even prior to obtaining laboratory confirmation. Read More

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Upregulation of GBP1 in thyroid primordium is required for developmental thyroid morphogenesis.

Genet Med 2021 Jun 30. Epub 2021 Jun 30.

The Core Laboratory in Medical Center of Clinical Research, Department of Molecular Diagnostics & Endocrinology, Shanghai Ninth People's Hospital, State Key Laboratory of Medical Genomics, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Purpose: Congenital hypothyroidism (CH) is a common congenital endocrine disorder in humans. CH-related diseases such as athyreosis, thyroid ectopy, and hypoplasia are primarily caused by dysgenic thyroid development. However, the underlying molecular mechanisms remain unknown. Read More

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Associations Between Prenatal Exposure to Air Pollution and Congenital Hypothyroidism.

Am J Epidemiol 2021 Jun 28. Epub 2021 Jun 28.

Braun School of Public Health and Community Medicine, The Hebrew University - Hadassah, Israel.

Adequate thyroid hormone availability is required for normal brain development. Studies found associations between prenatal exposure to air pollutants and thyroid hormones in pregnant women and newborns. We aimed to examine associations of trimester-specific residential exposure to common air pollutants with congenital hypothyroidism (CHT). Read More

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Improving the Dutch Newborn Screening for Central Congenital Hypothyroidism by Using 95% Reference Intervals for Thyroxine-Binding Globulin.

Eur Thyroid J 2021 Jun 5;10(3):222-229. Epub 2021 Mar 5.

Endocrine Laboratory, Department of Clinical Chemistry, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

Introduction: Newborn screening (NBS) for congenital hypothyroidism (CH) in the Netherlands consists of thyroxine (T4), thyroid-stimulating hormone (TSH), and T4-binding globulin (TBG) measurements to detect thyroidal CH and central CH (CH-C). CH-C is detected by T4 or a calculated T4/TBG ratio, which serves as an indirect measure of free T4. TSH and TBG are only measured in the lowest 20 and 5% of daily T4 values, respectively. Read More

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High Prevalence of Hearing Impairment in Primary Congenital Hypothyroidism.

Eur Thyroid J 2021 Jun 3;10(3):215-221. Epub 2020 Sep 3.

Pediatric Endocrine Institute, Ha'Emek Medical Center, Afula, Israel.

Background: An association between hearing impairment (HI) and congenital hypothyroidism (CH) has been reported previously. However, in general, studies were retrospective and had small sample sizes, and the results were variable and inconclusive. The aim of our study was to assess the prevalence of HI among patients with CH and to examine factors potentially predictive of HI including severity of CH, etiology of CH, and timing of treatment initiation. Read More

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Diagnostic re-evaluation and predictors of congenital hypothyroidism with eutopic thyroid gland in Jiangxi, China.

J Pediatr Endocrinol Metab 2021 Jun 28. Epub 2021 Jun 28.

Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, Jiangxi, China.

Objectives: An increase in the incidence of congenital hypothyroidism (CH) with eutopic gland has been reported worldwide due to neonatal screening programs. In this study, we aimed to determine the prevalence of transient CH (TCH) and to investigate predictive factors that could distinguish between permanent and transient CH in patients with eutopic thyroid glands.

Methods: We retrospectively reviewed 508 children treated for CH with eutopic thyroid glands between June 1998 and June 2020 in Jiangxi Newborn Screening Center. Read More

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From Endoderm to Progenitors: An Update on the Early Steps of Thyroid Morphogenesis in the Zebrafish.

Front Endocrinol (Lausanne) 2021 4;12:664557. Epub 2021 Jun 4.

Dipartimento di Malattie Endocrine e del Metabolismo, IRCCS Istituto Auxologico Italiano IRCCS, Milan, Italy.

The mechanisms underlying thyroid gland development have a central interest in biology and this review is aimed to provide an update on the recent advancements on the early steps of thyroid differentiation that were obtained in the zebrafish, because this teleost fish revealed to be a suitable organism to study the early developmental stages. Physiologically, the thyroid precursors fate is delineated by the appearance among the endoderm cells of the foregut of a restricted cell population expressing specific transcription factors, including , , and . The committed thyroid primordium first appears as a thickening of the pharyngeal floor of the anterior endoderm, that subsequently detaches from the floor and migrates to its final location where it gives rise to the thyroid hormone-producing follicles. Read More

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