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https://www.readbyqxmd.com/read/28527577/resistance-to-thyroid-hormone-due-to-heterozygous-mutations-in-thyroid-hormone-receptor-alpha
#1
Anja L M van Gucht, Carla Moran, Marcel E Meima, W Edward Visser, Krishna Chatterjee, Theo J Visser, Robin P Peeters
BACKGROUND: Thyroid hormone (TH) acts via nuclear thyroid hormone receptors (TRs). TR isoforms (TRα1, TRα2, TRβ1, TRβ2) are encoded by distinct genes (THRA and THRB) and show differing tissue distributions. Patients with mutations in THRB, exhibiting resistance within the hypothalamic-pituitary-thyroid axis with elevated TH and nonsuppressed thyroid-stimulating hormone (TSH) levels, were first described decades ago. In 2012, the first patients with mutations in THRA were identified...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28515031/phenotypic-variability-in-a-family-with-acrodysostosis-type-2-caused-by-a-novel-pde4d-mutation-affecting-the-serine-target-of-pka-phosphorylation
#2
Julia Hoppmann, Julia Gesing, Caroline Silve, Chrystel Leroy, Astrid Bertsche, Franz Wolfgang Hirsch, Wieland Kiess, Roland Pfäffle, Volker Schuster
BACKGROUND: Acrodysostosis is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe brachydactyly, midfacial hypoplasia, and short stature, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones. Two distinct subtypes are differentiated: acrodysostosis type 1 resulting from defects in PRKAR1A and acrodysostosis type 2 caused by mutations in PDE4D. Most cases are sporadic. OBJECTIVE: We report on a rare multigenerational familial case of acrodysostosis type 2 due to a novel autosomal dominantly inherited PDE4D mutation...
May 17, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28515030/congenital-central-hypothyroidism-caused-by-a-novel-tsh-beta-subunit-gene-mutation-c-94g-a-in-two-siblings
#3
Bayram Özhan, Özlem Boz Anlaş, Bilge Sarıtepe, Burcu Albuz, Nur Gündüz Semerci
Congenital central hypothyroidism (C-CH) is a very rare disease. Alterations in genes included in pituitary development, mutations of the immunoglobulin superfamily member 1 (IGSF1) and transducin β-like protein 1(TBL1X ) can result in C-CH with multiple pituitary hormone deficiencies. However, mutations of the thyrotropin-releasing hormone receptor or TSH-beta (TSHB) gene are responsible for isolated congenital central hypothyroidism. In this paper, we present 2 patients from the same Turkish family with a novel mutation of TSHB...
May 17, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28511899/signaling-pathways-to-and-from-the-hypophysial-pars-tuberalis-an-important-center-for-the-control-of-seasonal-rhythms
#4
REVIEW
Horst-Werner Korf
Seasonal (circannual) rhythms play an important role for the control of body functions (reproduction, metabolism, immune responses) in nearly all living organisms. Also humans are affected by the seasons with regard to immune responses and mental functions, the seasonal affective disorder being one of the most prominent examples. The hypophysial pars tuberalis (PT), an important interface between the hypophysial pars distalis and neuroendocrine centers in the brain, plays an essential role in the regulation of seasonal functions and may even be the seat of the circannual clock...
May 13, 2017: General and Comparative Endocrinology
https://www.readbyqxmd.com/read/28484426/structural-functional-features-of-the-thyrotropin-receptor-a-class-a-g-protein-coupled-receptor-at-work
#5
REVIEW
Gunnar Kleinau, Catherine L Worth, Annika Kreuchwig, Heike Biebermann, Patrick Marcinkowski, Patrick Scheerer, Gerd Krause
The thyroid-stimulating hormone receptor (TSHR) is a member of the glycoprotein hormone receptors, a sub-group of class A G-protein-coupled receptors (GPCRs). TSHR and its endogenous ligand thyrotropin (TSH) are of essential importance for growth and function of the thyroid gland and proper function of the TSH/TSHR system is pivotal for production and release of thyroid hormones. This receptor is also important with respect to pathophysiology, such as autoimmune (including ophthalmopathy) or non-autoimmune thyroid dysfunctions and cancer development...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28467477/waterborne-exposure-to-bps-causes-thyroid-endocrine-disruption-in-zebrafish-larvae
#6
Dan-Hua Zhang, En-Xiang Zhou, Zhu-Lin Yang
Bisphenol S (BPS) is widely used as a raw material in industry, resulting in its ubiquitous distribution in natural environment, including the aqueous environment. However, the effect of BPS on the thyroid endocrine system is largely unknown. In this study, zebrafish (Danio rerio) embryos were exposed to BPS at 1, 3, 10, and 30 μg/L, from 2 h post-fertilization (hpf) to 168hpf. Bioconcentration of BPS and whole-body thyroid hormones (THs), thyroid-stimulating hormone (TSH) concentrations as well as transcriptional profiling of key genes related to the hypothalamic-pituitary-thyroid (HPT) axis were examined...
2017: PloS One
https://www.readbyqxmd.com/read/28461507/evolutionarily-conserved-trh-neuropeptide-pathway-regulates-growth-in-caenorhabditis-elegans
#7
Elien Van Sinay, Olivier Mirabeau, Geert Depuydt, Matthias Boris Van Hiel, Katleen Peymen, Jan Watteyne, Sven Zels, Liliane Schoofs, Isabel Beets
In vertebrates thyrotropin-releasing hormone (TRH) is a highly conserved neuropeptide that exerts the hormonal control of thyroid-stimulating hormone (TSH) levels as well as neuromodulatory functions. However, a functional equivalent in protostomian animals remains unknown, although TRH receptors are conserved in proto- and deuterostomians. Here we identify a TRH-like neuropeptide precursor in Caenorhabditis elegans that belongs to a bilaterian family of TRH precursors. Using CRISPR/Cas9 and RNAi reverse genetics, we show that TRH-like neuropeptides, through the activation of their receptor TRHR-1, promote growth in Celegans TRH-like peptides from pharyngeal motor neurons are required for normal body size, and knockdown of their receptor in pharyngeal muscle cells reduces growth...
May 1, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28458701/is-herbal-therapy-safe-in-obesity-a-case-of-apium-graveolens-celery-induced-hyperthyroidism
#8
Hojjat Rouhi-Boroujeni, Masih Hosseini, Mojgan Gharipour, Hamid Rouhi-Boroujeni
BACKGROUND: Apium graveolens is one of the well-known herbs used for the treatment of different; however, allergic reactions have been reported after its use. This report aimed to demonstrate the A. graveolens induced hyperthyroidism after its oral consumption for weight loss. CASE REPORT: Mr. A, 48-year-old, with no history of any thyroid diseases, was diagnosed with hyperthyroidism due to daily consumption of 4 g of dried celery leaves for 45 days. After cessation of consumption and treatment with methimazole, the symptoms remitted...
September 2016: ARYA Atherosclerosis
https://www.readbyqxmd.com/read/28457184/changes-in-hepatic-tr%C3%AE-protein-expression-lipogenic-gene-expression-and-long-chain-acylcarnitine-levels-during-chronic-hyperthyroidism-and-t3-withdrawal-in-a-mouse-model
#9
Kenji Ohba, Rohit Anthony Sinha, Melvin Khee-Shing Leow, Liliana Felicia Iannucci, Brijesh Kumar Singh, Jin Zhou, Jean-Paul Kovalik, Xiao-Hui Liao, Samuel Refetoff, Judy Chia Ghee Sng, Paul M Yen
BACKGROUND: Thyroid hormone (TH) has important roles in regulating hepatic metabolism. We previously reported that most hepatic genes activated by a single T3 injection became desensitized after multiple injections, and that approximately 10% of target genes did not return to basal expression levels after T3 withdrawal despite normalization of serum TH and TSH levels. To determine the possible mechanism(s) for desensitization and incomplete recovery of hepatic target gene transcription and their effects on metabolism, we measured mRNA and/or protein expression levels of key regulators of TH action as well as metabolomic changes after chronic T3 treatment and withdrawal...
April 29, 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/28440200/effect-of-halofuginone-on-the-pathogenesis-of-autoimmune-thyroid-disease-in-different-mice-models
#10
Xin Hou, Jin Zhou, Rong Yang, Shanshan Liu, Mei Bi, Tong Liu, Chenling Fan, Haixia Guan, Yushu Li, Zhongyan Shan, Weiping Teng
OBJECTIVE: Our objectives were to investigate the therapeutic effect of halofuginone (HF) in the treatment of autoimmune thyroid diseases (AITDs) and explore its underlying mechanism of action. METHODS: The Graves' disease (GD) model was generated by immunizing female BALB/c mice with adenovirus expressing the TSH receptor A subunit (Ad-TSHR289). The Ad-TSHRA+HF and Ad-TSHRA+DMSO groups were injected intraperitoneally with HF or the vehicle control (DMSO), respectively...
April 23, 2017: Endocrine, Metabolic & Immune Disorders Drug Targets
https://www.readbyqxmd.com/read/28439882/prevalence-and-clinical-relevance-of-tsh-receptor-blocking-antibodies-in-autoimmune-thyroid-disease
#11
T Diana, J Krause, P D Olivo, J König, M Kanitz, B Decallonne, G J Kahaly
OBJECTIVE: The prevalence and clinical relevance of TSH-receptor (TSHR) blocking antibodies (TBAb) in patients with autoimmune thyroid disease (AITD) was investigated. METHODS: Serum TBAb were measured with a reporter gene bioassay using chinese hamster ovary cells. Blocking activity was defined as percentage inhibition of luciferase expression relative to induction with bovine TSH alone (cut-off 40% inhibition). All samples were measured for TSHR stimulatory Ab (TSAb) and TSHR binding inhibiting immunoglobulins (TBII)...
April 25, 2017: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/28439194/fetal-neonatal-hyperthyroidism-diagnostic-and-therapeutic-approachment
#12
REVIEW
Selim Kurtoğlu, Ahmet Özdemir
Fetal and neonatal hyperthyroidism may occur in mothers with Graves' disease. Fetal thyrotoxicosis manifestation is observed with the transition of TSH receptor stimulating antibodies to the fetus from the 17th-20th weeks of pregnancy and with the fetal TSH receptors becoming responsive after 20 weeks. The diagnosis is confirmed by fetal tachycardia, goiter and bone age advancement in pregnancy and maternal treatment is conducted in accordance. The probability of neonatal hyperthyroidism is high in the babies of mothers that have ongoing antithyroid requirement and higher antibody levels in the last months of pregnancy...
March 2017: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/28434012/clinical-importance-of-somatostatin-receptor-2-sstr2-and-somatostatin-receptor-5-sstr5-expression-in-thyrotropin-producing-pituitary-adenoma-tshoma
#13
Benxia Yu, Zhongsheng Zhang, Hao Song, Yuchun Chi, Chunling Shi, Miao Xu
BACKGROUND Thyrotropin-secreting pituitary adenomas (TSHomas) are a rare cause of hyperthyroidism. Somatostatin analogs have proved to be effective for inhibiting pituitary hormones secretion, working via interactions with somatostatin receptors (SSTRs). Moreover, antiproliferative activity of somatostatin analog is now demonstrated in several studies. In the present study, we determined the relative predominance of SSTR2 and SSTR5 subtypes among the different types of adenomas, especially TSHoma, and investigated the relationship between efficacy of short-term octreotide (OCT) treatment and SSTR expression...
April 23, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28419241/central-hypothyroidism-due-to-a-trhr-mutation-causing-impaired-ligand-affinity-and-transactivation-of-gq
#14
Marta García, Jesús González de Buitrago, Mireia Jiménez-Rosés, Leonardo Pardo, Patricia M Hinkle, José C Moreno
Context: Central congenital hypothyroidism (CCH) is an underdiagnosed disorder characterized by deficient production and bioactivity of TSH leading to low thyroid hormone synthesis. TRH receptor (TRHR) defects are rare recessive disorders usually associated with incidentally identified CCH and short stature in childhood. Objectives: Clinical and genetic characterization of a consanguineous family of Roma origin with central hypothyroidism and identification of underlying molecular mechanisms...
April 17, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28397723/short-term-preoperative-octreotide-for-thyrotropin-secreting-pituitary-adenoma
#15
Hong-Juan Fang, Yu Fu, Huan-Wen Wu, Yi-Lin Sun, Yang-Fang Li, Ya-Zhuo Zhang, Li-Yong Zhong
BACKGROUND: Thyrotropin-secreting pituitary adenomas (TSHomas) are a rare cause of hyperthyroidism. Somatostatin (SST) analogs work by interacting with somatostatin receptors (SSTRs). This study aimed to evaluate short-term preoperative octreotide (OCT) use in TSHoma patients and to investigate SSTR2 and SSTR5 expression and observe structural changes in tumor tissue. METHODS: We reviewed records and samples from eight TSHoma patients treated between July 2012 and July 2015...
April 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28391273/inverse-correlation-of-venous-brain-natriuretic-peptide-levels-with-body-mass-index-is-due-to-decreased-production
#16
Zubair Shah, Mark Wiley, Arun Mahankali Sridhar, Reza Masoomi, Mazda Biria, Dhananjay Lakkireddy, Buddhadeb Dawn, Kamal Gupta
OBJECTIVE: The aim of this paper was to study the association between body mass index (BMI) and coronary sinus (CS) brain natriuretic peptide (BNP) levels in patients with heart failure and reduced systolic function (HFrEF). BACKGROUND: There is an inverse relationship between systemic venous BNP (V-BNP) levels and BMI in patients with HFrEF. It is unclear whether this finding is due to decreased production or due to an increased metabolism of BNP. Since CS-BNP levels reflect BNP production, we hypothesized that assessing the correlation of CS-BNP levels with BMI would provide insight into the mechanism of this inverse relationship of V-BNP and BMI...
April 8, 2017: Cardiology
https://www.readbyqxmd.com/read/28388869/annals-express-stimulating-tsh-receptor-autoantibodies-immunoassay-analytical-evaluation-and-clinical-performance-in-graves-disease
#17
Chiara Autilio, Renato Morelli, Pietro Locantore, Alfredo Pontecorvi, Cecilia Zuppi, Cinzia Carrozza
BACKGROUND: Thyroid stimulating hormone (TSH) receptor (TSHR) autoantibodies (TRAbs) are a heterogeneous group of antibodies (Abs) with different functionality. Among all TRAbs only the stimulating one (S-TRAbs) are considered the pathogenetic marker of Graves' Disease (GD). To date, the methods available for TRAbs testing are based on immunoassays (IMAs) which detect total serum TRAbs or bioassays which are not suitable in clinical practice, even though they discern Abs functionality...
January 1, 2017: Annals of Clinical Biochemistry
https://www.readbyqxmd.com/read/28351942/targeting-the-tsh-receptor-in-thyroid-cancer
#18
Christopher W Rowe, Jonathan Paul, Craig Gedye, Jorge Tolosa, Cino Bendinelli, Shaun McGrath, Roger Smith
Recent advances in the arena of theranostics have necessitated a re-examining of previously established fields. The existing paradigm of therapeutic thyroid stimulating hormone receptor (TSHR) targeting in the post-surgical management of differentiated thyroid cancer using levothyroxine and recombinant human thyroid stimulating hormone (TSH) is well understood. However, in an era of personalized medicine, and with an increasing awareness of the risk profile of longstanding pharmacological hyperthyroidism, it is imperative clinicians understand the molecular basis and magnitude of benefit for individual patients...
March 28, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28349931/adipokines-leptin-adiponectin-resistin-differentially-regulate-all-hormonal-cell-types-in-primary-anterior-pituitary-cell-cultures-from-two-primate-species
#19
André Sarmento-Cabral, Juan R Peinado, Lisa C Halliday, María M Malagon, Justo P Castaño, Rhonda D Kineman, Raúl M Luque
Adipose-tissue (AT) is an endocrine organ that dynamically secretes multiple hormones, the adipokines, which regulate key physiological processes. However, adipokines and their receptors are also expressed and regulated in other tissues, including the pituitary, suggesting that locally- and AT-produced adipokines might comprise a regulatory circuit that relevantly modulate pituitary cell-function. Here, we used primary pituitary cell-cultures from two normal nonhuman-primate species [Papio-anubis/Macaca-fascicularis] to determine the impact of different adipokines on the functioning of all anterior-pituitary cell-types...
March 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28348112/hypophysectomy-abolishes-rhythms-in-rat-thyroid-hormones-but-not-in-the-thyroid-clock
#20
Jan Fahrenkrug, Birgitte Georg, Jens Hannibal, Henrik Løvendahl Jørgensen
The endocrine body rhythms including the hypothalamic-pituitary-thyroid axis seem to be regulated by the circadian timing system, and daily rhythmicity of circulating thyroid stimulating hormone (TSH) is well-established. The circadian rhythms are generated by endogenous clocks in the central brain oscillator located in the hypothalamic suprachiasmatic nucleus (SCN) as well as multiple peripheral clocks, but information on the existence and function of a thyroid clock is limited. The molecular machinery in all clock cells is composed of a number of clock genes and their gene products connected by autoregulatory feedback loops...
March 27, 2017: Journal of Endocrinology
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