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congenital hypothyroidism

Satsuki Nishigaki, Takashi Hamazaki, Keinosuke Fujita, Shuntaro Morikawa, Toshihiro Tajima, Haruo Shintaku
BACKGROUND: Hemizygous mutations in the<i> immunoglobulin superfamily member 1 (IGSF1) </i>gene have been demonstrated to cause congenital central hypothyroidism in males. We report one family with a novel mutation of the<i> IGSF1 </i>gene located on the long arm of the X chromosome. PATIENT FINDINGS: A two-month-old boy was diagnosed with central hypothyroidism because of prolonged jaundice. A thyrotropin releasing hormone (TRH) stimulation test indicated dysfunction in both the hypothalamus and the pituitary gland and prompted us to analyze the<i> IGSF1 </i>gene...
October 20, 2016: Thyroid: Official Journal of the American Thyroid Association
Matthew McGovern, Zahra Reyani, Pamela O'Connor, Martin White, Jan Miletin
: Our aim was to assess the utility of serum thyroxine and thyroid stimulating hormone performed at 10-14 days of life in diagnosing congenital hypothyroidism (CH) in babies born to mothers with hypothyroidism. This was a retrospective study of all babies born in a tertiary referral centre for neonatology over a 12-month period. Infants who had thyroid function testing (TFT) checked at 10-14 days of life because of maternal hypothyroidism during the period of study were included. The results of the newborn bloodspot and day 10-14 TFT were recorded along with whether or not patients were subsequently treated...
October 14, 2016: European Journal of Pediatrics
Man-Li Guo, Xiao Zheng, Liu-Xue Yang, Ya-Li Qiu, Liang Cheng, Shao-Gang Ma
Resistance to thyroid hormone (RTH) coexisting with ectopic thyroid is rare. Here we report a case of RTH with ectopic thyroid. A ten-year-old girl had been misdiagnosed as congenital hypothyroidism and treated with levothyroxine since she was born. Ten-year follow-up showed that the elevated thyrotropin was never suppressed by levothyroxine and no signs indicating hyperthyroidism or hypothyroidism despite elevated FT3 and FT4 levels. Therefore the girl developed no defects in physical and cognitive development...
October 10, 2016: Archives of Endocrinology and Metabolism
Lydie Ryšavá, Jaroslav Kříž
Diseases caused by Iodine deficit are preventable. Inter resort Commission for the solution of Iodine deficiency (MKJD) at State Institute for Health (SZU) in Prague has been taking effective measures which satisfied requirements of the Principles for sustainable elimination of diseases caused by Iodine deficiency ICCD WHO: 96 % of households is using iodized salt, average Iodine content is 25 mg/1 kg of salt. Data from studies show ioduria less 100 mcg/l in only 9 per cent of seniors, 5 % of children 7-10 years, 3 % of children 10-12 years...
2016: Vnitr̆ní Lékar̆ství
Connie Y Chang, Daniel I Rosenthal, Deborah M Mitchell, Atsuhiko Handa, Susan V Kattapuram, Ambrose J Huang
Metabolic bone diseases are a diverse group of diseases that result in abnormalities of (a) bone mass, (b) structure mineral homeostasis, (c) bone turnover, or (d) growth. Osteoporosis, the most common metabolic bone disease, results in generalized loss of bone mass and deterioration in the bone microarchitecture. Impaired chondrocyte development and failure to mineralize growth plate cartilage in rickets lead to widened growth plates and frayed metaphyses at sites of greatest growth. Osteomalacia is the result of impaired mineralization of newly formed osteoid, which leads to characteristic Looser zones...
October 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
Paria Kashani, Madan Roy, Linda Gillis, Olufemi Ajani, M Constantine Samaan
A 19-month-old boy was referred for progressive weight gain. His past medical history included congenital hypothyroidism and developmental delay. Physical examination revealed characteristics of Albright Hereditary Osteodystrophy, macrocephaly, and calcinosis cutis. He had hypocalcemia, hyperphosphatemia, and elevated Parathyroid Hormone levels. Genetic testing revealed a known mutation of GNAS gene, confirming the diagnosis of Pseudohypoparathyroidism Type Ia (PHP-Ia) (c.34C>T (p.G1n12X)). He had a normal brain MRI at three months, but developmental delay prompted a repeat MRI that revealed Chiari Malformation Type I (CM-I) with hydrocephalus requiring neurosurgical intervention...
2016: Case Reports in Medicine
Natasha L Heather, Paul L Hofman, Mark de Hora, Joan Carll, José G B Derraik, Dianne Webster
OBJECTIVE: The aim of this study was to assess the performance of the revised New Zealand (NZ) newborn screening TSH cut-offs for congenital hypothyroidism (CHT). METHODS: Screening data over 24 months were obtained from the NZ newborn metabolic screening programme, which utilizes a 2-tier system of direct clinical referral for infants with markedly elevated TSH, and second samples from those with mild TSH elevation. We evaluated the impact of a reduced TSH threshold (50 to 30 mIU/l blood) for direct notification and a lower cut-off (15 to 8 mIU/l blood) applied to second samples and babies older than 14 days...
October 3, 2016: Clinical Endocrinology
Lisette Leeuwen, Arno F J van Heijst, Sanne Vijfhuize, Leonardus W J E Beurskens, Gert Weijman, Dick Tibboel, Erica L T van den Akker, Hanneke IJsselstijn
BACKGROUND: Thyroid hormone concentrations may deviate from normal values during critical illness. This condition is known as nonthyroidal illness syndrome (NTIS), and it can influence the results of screening for congenital hypothyroidism (CH) during neonatal extracorporeal membrane oxygenation (ECMO). OBJECTIVES: To determine the incidence of aberrant CH screening results in ECMO-treated neonates, to identify possible determinants, and to follow up patients with abnormal thyroid hormone concentrations...
September 17, 2016: Neonatology
Chunyun Fu, Jin Wang, Shiyu Luo, Qi Yang, Qifei Li, Haiyang Zheng, Xuyun Hu, Jiasun Su, Shujie Zhang, Rongyu Chen, Jingsi Luo, Yue Zhang, Yiping Shen, Hongwei Wei, Dahua Meng, Baoheng Gui, Zhangqin Zeng, Xin Fan, Shaoke Chen
BACKGROUND: Defects in the human TSHR gene are reported to be one of the causes of CH due to thyroid dysgenesis, the purpose of this study was to examine the TSHR mutation spectrum and prevalence in congenital hypothyroidism (CH) and subclinical congenital hypothyroidism (SCH) patients in the Guangxi Zhuang Autonomous Region of China and to evaluate the genotype-phenotype correlations. METHODS: Blood samples were collected from 384 patients including 240 CH and 144 SCH patients in Guangxi, China...
November 1, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
Hakan Cangul, Banu K Aydin, Firdevs Bas
Congenital hypothyroidism (CH) is the most common neonatal endocrine disease, and germ-line mutations in the TPO gene cause the inherited form of the disease. Our aim in this study was to determine the genetic basis of congenital hypothyroidism in three affected children coming from a consanguineous Turkish family. Because CH is usually inherited in autosomal recessive manner in consanguineous/multicase families, we adopted a two-stage strategy of genetic linkage studies and targeted sequencing of the candidate genes...
December 2015: Journal of Pediatric Genetics
Erdoğan Özgür, Börte Gürbüz Özgür, Hatice Aksu, Gökhan Cesur
OBJECTIVE: The aim of this study was to investigate the depression-like behaviors of juvenile rats with congenital and postnatal hypothyroidism. METHODS: Twenty seven newborn rat pups were used. First, 6-month old Wistar Albino female rats were impregnated. Methimazole (0.025% wt/vol) was given to dam rats from the first day of pregnancy until postnatal 21 days (P21) to generate pups with congenital hypothyroidism (n=8), whereas in the postnatal hypothyroidism group (n=10) methimazole was given from P0 to P21...
September 9, 2016: Journal of Clinical Research in Pediatric Endocrinology
Mostafa Mazloum Farsi Baf, Mozhgan Mazloum Farsi Baf, Fatemeh Noorollahi, Morteza Mazloum Farsi Baf
OBJECTIVE: Congenital hypothyroidism (CH) is one of the most common treatable causes of mental retardation and neurodevelopmental impairment. METHODS: In a cross-sectional study, 114342 neonates born in 28 cities in Razavi Khorasan province, northeastern Iran from Aril 2013 to March 2014, were screened for congenital hypothyroidism by taking blood sample from heel prick. The newborns with TSH ≥5 mIU/L were recalled for further assessment of TSH concentration in serum sample...
September 9, 2016: Journal of Clinical Research in Pediatric Endocrinology
Charlotte A Heinen, Monique Losekoot, Yu Sun, Peter J Watson, Louise Fairall, Sjoerd D Joustra, Nitash Zwaveling-Soonawala, Wilma Oostdijk, Erica L T van den Akker, Mariëlle Alders, Gijs W E Santen, Rick R van Rijn, Wouter A Dreschler, Olga V Surovtseva, Nienke R Biermasz, Raoul C Hennekam, Jan M Wit, John W R Schwabe, Anita Boelen, Eric Fliers, A S Paul van Trotsenburg
CONTEXT: Isolated congenital central hypothyroidism (CeH) can result from mutations in TRHR, TSHB and IGSF1, but its etiology often remains unexplained. We identified a missense mutation in the Transducin β-like protein 1, X-linked (TBL1X) gene in three relatives diagnosed with isolated CeH. TBL1X is part of the thyroid hormone receptor corepressor-complex. OBJECTIVE: Identification of TBL1X mutations in patients with unexplained isolated CeH, Sanger sequencing of relatives of affected individuals, and clinical and biochemical characterization...
September 7, 2016: Journal of Clinical Endocrinology and Metabolism
George A Ford, Sara Denniston, David Sesser, Michael R Skeels, Stephen H LaFranchi
BACKGROUND/AIMS: The newborn screening (NBS) program in Oregon, USA, collects two routine specimens in all infants. The aim of our study was to determine the incidence of permanent versus transient congenital hypothyroidism (CH) in infants detected on the first versus second screening test. METHODS: Thyroid function was determined in infants after the age of 3 years diagnosed with CH and born in Oregon between 2005 and 2011. Permanent hypothyroidism was defined as a TSH rise >10 mIU/ml after the first year on treatment or a TSH rise >6 mIU/ml with temporary discontinuation of l-thyroxine after the age of 3 years...
September 6, 2016: Hormone Research in Pædiatrics
Sophie Jovien, Raphaël Borie, Diane Doummar, Annick Clement, Nadia Nathan
No abstract text is available yet for this article.
2016: Respiration; International Review of Thoracic Diseases
Markus-Johann Dechant, Natascha van der Werf-Grohmann, Elena Neumann, Ute Spiekerkoetter, Brigitte Stiller, Jochen Grohmann
BACKGROUND: Cardiac catheterisation requiring the use of contrast medium is increasingly utilised in infants with congenital heart disease. Thyroid function in infants is potentially vulnerable to relatively high doses of iodine. METHODS: Single-centre prospective study of 21 patients (10 neonates, 11 infants) exposed to iodine during cardiac catheterisation. Median age was 30days (1-180), median body weight 3.3kg (1.6-7.0). Serum-levels of thyroid-stimulating hormone (TSH), free triiodothyronine (fT3) and free thyroxine (fT4) were measured at baseline before, and at three different times points after intervention...
November 15, 2016: International Journal of Cardiology
Hend Soliman, Aisha Fawzy Abdel Hady, Asmaa Abdel Hamid, Heba Mahmoud
OBJECTIVE: The aim of this work was to evaluate receptive and expressive language skills in children with congenital hypothyroidism receiving early hormonal replacement treatment before the age of 3 months and to identify any subtle areas of weaknesses in their language development to check the necessity for future language intervention. PATIENTS AND METHODS: The study was conducted on 30 hypothyroid children receiving hormonal replacement. They were subdivided into group I (5-8 years 11 months; 12 cases) and group II (9-12 years 11 months; 18 cases)...
September 2, 2016: Folia Phoniatrica et Logopaedica
M Tan, Y Huang, X Jiang, P Li, C Tang, X Jia, Q Chen, W Chen, H Sheng, Y Feng, D Wu, L Liu
Thyroid dyshormonogenesis (DH) has recently been reported to be more frequently associated with mutations in the dual oxidase 2 (DUOX2) gene. The present study was aimed to investigate the prevalence, clinical, and molecular characteristics of congenital hypothyroidism (CH) caused by DUOX2 mutations in Guangzhou. A population-based cohort of 156 patients with CH was recruited based on neonatal screening among 433 578 newborns born in Guangzhou from 2011 to 2012. Genetic analysis of DUOX2 was performed in 96 patients with suspected thyroid dyshormonogenesis (SDH) by PCR-amplified direct sequencing...
September 2016: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
Mohammed Almannai, Ronit Marom, V Reid Sutton
PURPOSE OF REVIEW: The purpose of this review is to summarize the development and recent advancements of newborn screening. RECENT FINDINGS: Early initiation of medical care has modified the outcome for many disorders that were previously associated with high morbidity (such as cystic fibrosis, primary immune deficiencies, and inborn errors of metabolism) or with significant neurodevelopmental disabilities (such as phenylketonuria and congenital hypothyroidism)...
August 20, 2016: Current Opinion in Pediatrics
Gustavo Giraldo, Ana M Gómez, Lina Mora, Fernando Suarez-Obando, Olga Moreno
INTRODUCTION: Mosaic trisomy 8 or "Warkany's Syndrome" is a chromosomopathy with an estimated prevalance of 1:25,000 to 1:50,000, whose clinical presentation has a wide phenotypic variability. CASE DESCRIPTION: Patient aged 14 years old with antecedents of global retardation of development, moderate cognitive deficit and hypothyroidism of possible congenital origin. CLINICAL FINDINGS: Physical examination revealed palpebral ptosis, small corneas and corectopia, hypoplasia of the upper maxilla and prognathism, dental crowding, high-arched palate, anomalies of the extremities such as digitalization of the thumbs, clinodactyly and bilateral shortening of the fifth finger, shortening of the right femur, columnar deviation and linear brown blotches that followed Blaschko's lines...
2016: Colombia Médica: CM
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