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congenital hypothyroidism

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https://www.readbyqxmd.com/read/28718179/genetic-alterations-in-pendrin-slc26a4-gene-in-adult-hypothyroid-patients
#1
Sourav Mukherjee, Manalee Guha, Bidisha Adhikary, Biswabandhu Bankura, Pubali Mitra, Subhankar Chowdhury, Madhusudan Das
Current study was aimed to screen the SLC26A4 gene in 127 nonautoimmune and noncongenital hypothyroid patients, who were under optimal iodine nutrition and devoid of any characteristics of Pendred syndrome from eastern part of Indian population. 8 single nucleotide variants/mutations were identified in heterozygous state in 20% patient population, which include 1 novel nonsynonymous (p.C18S), 1 novel intronic (g.942C>A), 3 known nonsynonymous (p.S23X, p.V239D, and p.I455F), and 3 known intronic (g.23034G>T, g...
July 17, 2017: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/28706256/an-extremely-high-dietary-iodide-supply-forestalls-severe-hypothyroidism-in-na-i-symporter-nis-knockout-mice
#2
Giuseppe Ferrandino, Rachel R Kaspari, Andrea Reyna-Neyra, Nabil E Boutagy, Albert J Sinusas, Nancy Carrasco
The sodium/iodide symporter (NIS) mediates active iodide (I(-)) accumulation in the thyroid, the first step in thyroid hormone (TH) biosynthesis. Mutations in the SLC5A5 gene encoding NIS that result in a non-functional protein lead to congenital hypothyroidism due to I(-) transport defect (ITD). ITD is a rare autosomal disorder that, if not treated promptly in infancy, can cause mental retardation, as the TH decrease results in improper development of the nervous system. However, in some patients, hypothyroidism has been ameliorated by unusually large amounts of dietary I(-)...
July 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28697824/-analysis-of-treatment-efficacy-for-congenital-hypothyroidism-in-some-regions-of-yunnan-province-china
#3
Jing-Hui Yang, Jing-Hui Zhang, Yin-Hong Zhang, Xiao-Zhi Xu, Hong Chen, Yuan Li, Yan Jiang, Zheng Wang, Bao-Sheng Zhu, Li Li
OBJECTIVE: To observe the effects of initial doses and treatment timing of levothyroxine (L-T4) on the clinical efficacy in children with congenital hypothyroidism (CH). METHODS: This study included 98 children who had an abnormal level of thyroid stimulating hormone (TSH) in neonatal screening in four regions of Yunnan Province and who finally had a confirmed diagnosis of CH. They received treatment with L-T4 and were divided into standard dose group (10-15 μg/kg per day) and low dose group (<10 μg/kg per day) by the therapeutic dose of L-T4...
July 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28694389/are-lower-tsh-cutoffs-in-neonatal-screening-for-congenital-hypothyroidism-warranted-a-debate
#4
Samantha Lain, Caroline Trumpff, Scott D Grosse, Antonella Olivieri, Guy Van Vliet
When newborn screening (NBS) for congenital hypothyroidism (CH) using thyroid stimulating hormone (TSH) as a primary screening test was introduced, typical TSH screening cutoffs were 20 to 50 mU/L of whole blood. Over the years, lowering of TSH cutoffs has contributed to an increased prevalence of detected CH. However, a consensus on the benefit deriving from lowering TSH cutoffs at screening is lacking. The present paper outlines arguments both for and against the lowering of TSH cutoffs at NBS. It includes a review of recently published evidence from Australia, Belgium, and Italy...
July 10, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28690990/predictors-of-transient-congenital-hypothyroidism-in-children-with-eutopic-thyroid-gland
#5
Il Soon Park, Jong Seo Yoon, Cheol Hwan So, Hae Sang Lee, Jin Soon Hwang
PURPOSE: Congenital hypothyroidism (CH) is the most common cause of preventable mental retardation. Recently, the detection of CH cases with eutopic thyroid gland has increased due to neonatal screening programs. In this study, we aimed to identify and evaluate predictive factors that could distinguish between permanent and transient CH in patients with eutopic thyroid gland. METHODS: We retrospectively reviewed 100 children diagnosed with CH and with eutopic thyroid gland...
June 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28690988/intellectual-development-in-preschool-children-with-early-treated-congenital-hypothyroidism
#6
Min Kyoung Seo, Jong Seo Yoon, Chul Hwan So, Hae Sang Lee, Jin Soon Hwang
PURPOSE: Delayed treatment of congenital hypothyroidism (CH) is a common cause of mental retardation. The aim of the present study was to evaluate intellectual outcomes in preschool children with treated CH. METHODS: We retrospectively reviewed the clinical records of 43 children (age range: 13 to 60 days of life; 22 girls and 21 boys) diagnosed with CH. Children aged 5 to 7 years were examined using the Korean Wechsler Intelligence Scale for Children or the Korean Wechsler Preschool and Primary Scale of Intelligence...
June 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28687188/-oral-and-dental-expression-of-thyroid-diseases
#7
Jean-Louis Wémeau, Christine Do Cao, Miriam Ladsous
Oral disorders were observed in children with congenital hypothyroidism, lately apparent because of difficulties of feeding, swallowing disorders, and macroglossia. Macroglossia was also a component of the severe acquired myxedema, particularly observed in hypothyroidism related to autoimmune atrophic thyroiditis beyond menopause. Lingual ectopy in children and adults could determine respiratory gene or swallowing difficulties, and were detectable by visual examination and the endobuccal touch. Expression of these events was completely minimized since the neonatal screening of congenital hypothyroidism, also by the common practice in adults of serum TSH determinations...
July 4, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/28683242/targeted-levothyroxine-therapy-for-treatment-of-congenital-hypothyroidism
#8
Melissa J Schoelwer, Wanzhu Tu, Junyi Zhou, Erica A Eugster
OBJECTIVE: The purpose of this study was to determine if infants with congenital hypothyroidism (CH) whose initial dose of levothyroxine (LT4) is based on thyroid gland anatomy require fewer dose adjustments in the first six months of life than those who were started empirically on LT4. METHODS: Newborns with CH who had a thyroid ultrasound performed at diagnosis were eligible for this prospective, historical case-controlled study. The daily LT4 dose prescribed was based on results on the thyroid ultrasound as follows: 15 mcg/kg for athyreosis, 12 mcg/kg for a dysgenetic thyroid, and 10 mcg/kg for an anatomically normal gland...
July 6, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28670190/newborn-screening-for-thyroid-stimulating-hormone-as-an-indicator-for-assessment-of-iodine-status-in-the-republic-of-macedonia
#9
Violeta Anastasovska, Mirjana Kocova
BACKGROUND: Iodine deficiency is associated with goiter and impaired brain function leading to cretinism. An increased frequency of thyroid-stimulating hormone (TSH) measurements above 5 mlU/L on newborn screening points toward an impaired iodine status of the population. METHODS: A 13-year retrospective analysis was performed in 228,266 newborns participating in the national thyroid newborn screening program. The TSH concentration was measured in dry blood spots collected by heel stick on filter paper, 48 hours after birth, using fluoroimmunometric DELFIA method...
October 2016: Journal of Medical Biochemistry
https://www.readbyqxmd.com/read/28666341/duox2-mutations-are-associated-with-congenital-hypothyroidism-with-ectopic-thyroid-gland
#10
Marina M L Kizys, Ruy A Louzada, Miguel Mitne-Neto, Jessica R Jara, Gilberto K Furuzawa, Denise P de Carvalho, Magnus R Dias-da-Silva, Suzana Nesi-França, Corinne Dupuy, Rui M B Maciel
Context: Thyroid dysgenesis (TD) is the leading cause of congenital hypothyroidism (CH). The etiology of TD remains unknown in about approximately 90% of cases, the most frequent form being thyroid ectopia (TE; 48-61%). Objective: To search for new candidate genes in hypothyroid children with TE. Design/Setting/Participants: We followed a cohort of 268 TD children and performed whole-exome sequencing (WES) in three children with CH with TE (CHTE) and compared them with 18 thyroid-healthy controls...
June 28, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28660991/insulin-resistance-in-endocrine-disorders-treatment-options
#11
Anita Rogowicz-Frontczak, Anna Majchrzak, Dorota Zozulińska-Ziółkiewicz
Changes in sensitivity to insulin occur in the course of a number of endocrine disorders. Most of the hormones through their antagonistic action to insulin lead to increased hepatic glucose output and its decreased utilisation in peripheral tissues. Carbohydrate disorders observed in endocrine diseases result from the phenomenon of insulin resistance, and in some cases also a reduction in insulin secretion is present. Abnormalities of glucose metabolism are observed in acromegaly, but also in growth hormone deficiency, hypercortisolism in the course of Cushing's syndrome, hyper- or hypothyroidism, primary hyperparathyroidism, aldosteronism, pheochromocytoma, congenital hypertrophy of the adrenal glands, polycystic ovaries syndrome, hypogonadism, or other hormonally active neuroendocrine tumours...
2017: Endokrynologia Polska
https://www.readbyqxmd.com/read/28658938/low-thyroid-hormone-levels-disrupt-thyrotrope-development
#12
Ksenia Tonyushkina, Stefanie Krug, Theresa Ortiz-Toro, Tibor Mascari, Rolf Karlstrom
Low thyroid hormone (TH) conditions caused by a variety of pre- and perinatal problems have been shown to alter postnatal regulatory thyrotropin (TSH) responsiveness to TH in humans and rodents. The mechanisms underlying this pituitary TH-resistance remain unknown. Here we use the evolutionarily conserved zebrafish model to examine the effects of low TH on thyrotrope development and function. Zebrafish were exposed to the goitrogen 6-propyl-2-thiouracil (PTU) in order to block TH synthesis and this led to an approximately 50% increase in thyrotrope numbers and a 8-10 fold increase in tshb mRNA abundance in 2 week old larvae and 1 month old juveniles...
June 27, 2017: Endocrinology
https://www.readbyqxmd.com/read/28657504/prevalence-and-characterization-of-thyroid-hemiagenesis-in-japan-the-fukushima-health-management-survey
#13
Satoru Suzuki, Sanae Midorikawa, Takashi Matsuzuka, Toshihiko Fukushima, Yuko Ito, Hiroki Shimura, Hideto Takahashi, Tetsuya Ohira, Akira Ohtsuru, Masafumi Abe, Shinichi Suzuki, Shunichi Yamashita
BACKGROUND: Thyroid hemiagenesis is a rare congenital variant characterized by the lack of development of one thyroid lobe with no clinical manifestations. METHODS: This study was performed to determine the prevalence and characteristics of thyroid hemiagenesis in a normal Japanese population. This cross-sectional study was performed from 9 October 2011 to 30 April 2015. In total, 299,908 children and young adults in the Fukushima Health Management Survey were examined to determine the presence of thyroid agenesis or hemiagenesis...
June 28, 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/28657259/infants-of-hypothyroid-mothers-are-postnatal-thyroid-function-tests-necessary-a-retrospective-study-in-a-regional-hospital
#14
A Hawke, A Stanzelova, E Ruth, O M Neylon
Congenital hypothyroidism is a preventable cause of intellectual disability. The aim of this study was to establish whether adding an additional thyroid function check between days of life 10-14 in infants born to mothers with known hypothyroidism identified any additional cases of congenital hypothyroidism requiring treatment that were not detected by the national newborn bloodspot screening programme. Babies who had Thyroid Function Tests (TFTs) measured at 10-14 days of age were identified using the Paediatric Ward attenders log from the years 2012-2014...
February 10, 2017: Irish Medical Journal
https://www.readbyqxmd.com/read/28653287/role-of-jagged1-notch-pathway-in-thyroid-development
#15
REVIEW
F Marelli, L Persani
The zebrafish thyroid gland shows a unique pattern of growth. Despite the lack of a compact gland, the zebrafish thyroid tissue originates from the pharyngeal endoderm and the main genes involved in its patterning and early development are conserved between zebrafish and mammals. In recent years, the research has been focused to the search of novel candidate genes and environmental factors underlying congenital hypothyroidism. Among these, it has been demonstrated that the Notch signalling plays a central role during zebrafish thyroid development...
June 26, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28648510/disorders-of-h2o2-generation
#16
REVIEW
Marina Muzza, Laura Fugazzola
After the identification of thyroid H2O2 generation system (DUOX) and of its maturation factors (DUOXA), defects in DUOX2 and/or DUOXA2 were rapidly recognized as the possible cause of congenital hypothyroidism (CH) due to thyroid dyshormonogenesis. The present Review reports data on the prevalence of DUOX2 mutations, which is variable among different series but invariably high, pointing to DUOX2 defects as one of the leading causes of dyshormonogenesis. Differently, DUOXA defects seem to be rarely involved in the pathogenesis of CH...
March 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28648508/iodide-handling-disorders-nis-tpo-tg-iyd
#17
REVIEW
Héctor M Targovnik, Cintia E Citterio, Carina M Rivolta
Iodide Handling Disorders lead to defects of the biosynthesis of thyroid hormones (thyroid dyshormonogenesis, TD) and thereafter congenital hypothyroidism (CH), the most common endocrine disease characterized by low levels of circulating thyroid hormones. The prevalence of CH is 1 in 2000-3000 live births. Prevention of CH is based on prenatal diagnosis, carrier identification, and genetic counseling. In neonates a complete diagnosis of TD should include clinical examination, biochemical thyroid tests, thyroid ultrasound, radioiodine or technetium scintigraphy and perchlorate discharge test (PDT)...
March 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28648507/resistance-to-thyrotropin
#18
REVIEW
Helmut Grasberger, Samuel Refetoff
Resistance to thyrotropin (RTSH) is broadly defined as reduced sensitivity of thyroid follicle cells to stimulation by biologically active TSH due to genetic defects. Affected individuals have elevated serum TSH in the absence of goiter, with the severity ranging from nongoitrous isolated hyperthyrotropinemia to severe congenital hypothyroidism with thyroid hypoplasia. Conceptually, defects leading to RTSH impair both aspects of TSH-mediated action, namely thyroid hormone synthesis and gland growth. These include inactivating mutations in the genes encoding the TSH receptor and the PAX8 transcription factor...
March 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28648506/the-role-of-glis3-in-thyroid-disease-as-part-of-a-multisystem-disorder
#19
REVIEW
P Dimitri
Congenital hypothyroidism is the most common hereditary endocrine disorder. In a small number of cases, mutations have been identified that are associated with maldevelopment and maldescent of the thyroid. Some of these mutations present as syndromes with a multisystem phenotype such as NKX2-1, PAX8, and FOXE. The association of permanent neonatal diabetes and congenital hypothyroidism was first reported in 2003 and subsequently led to the identification GLIS3 as the mutation responsible for this presentation...
March 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28648505/hypothyroidism-associated-with-parathyroid-disorders
#20
REVIEW
Giovanna Mantovani, Francesca Marta Elli, Sabrina Corbetta
Hypothyroidism may occur in association with congenital parathyroid disorders determining parathyroid hormone insufficiency, which is characterized by hypocalcemia and concomitant inappropriately low secretion of parathormone (PTH). The association is often due to loss of function of genes common to thyroid and parathyroid glands embryonic development. Hypothyroidism associated with hypoparathyroidism is generally mild and not associated with goiter; moreover, it is usually part of a multisystemic involvement not restricted to endocrine function as occurs in patients with 22q11 microdeletion/DiGeorge syndrome, the most frequent disorders...
March 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
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