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Division of Oncology, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
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Department of Otorhinolaryngology: Head and Neck Surgery, University of Pennsylvania, Philadelphia, Pennsylvania, USA
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A Surrey LF McGrath C Bhatti T Jalaly J Mostoufi-Moab S , et al. Indeterminate thyroid fine-needle aspirations in pediatrics: exploring the clinicopathologic features and utility of molecular profiling . Hormone Research in Paediatrics
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Regional Center for Newborn Screening, Diagnosis and Treatment of Congenital Metabolic and Endocrinological Diseases, Verona, Italy
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Pediatric Section, Department Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy
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Regional Center for Newborn Screening, Diagnosis and Treatment of Congenital Metabolic and Endocrinological Diseases, Verona, Italy
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Pediatric Section, Department Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy
Regional Center for the Diagnosis and Treatment of Children and Adolescents Rare Skeletal Disorders, Pediatric Clinic, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy
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0029-7844(9800369-x ) 10 Underland L Kenigsberg L Derrick KM Crespi R Kaushal T Lam L . Thyroid function testing in neonates with maternal history of disease . Clinical Pediatrics 2018 57 436 – 441 . ( https://doi.org/10
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea
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Institute of Environmental Medicine, Seoul National University Medical Research Center, Seoul, Republic of Korea
Environmental Health Center, Seoul National University College of Medicine, Seoul, Republic of Korea
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Environmental Health Center, Seoul National University College of Medicine, Seoul, Republic of Korea
Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea
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Department of Internal medicine, Seoul National University College of Medicine, Seoul, Republic of Korea
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Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea
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Department of Internal medicine, Seoul National University College of Medicine, Seoul, Republic of Korea
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Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea
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Yo MH , Korean National Growth Chart: review of developmental process and an outlook . Korean Journal of Pediatrics 2007 51 1 – 25 . 14 Du Bois D & Du Bois EF . A formula to estimate the approximate surface area if height and weight be
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0091-6749 11 Beratis NG , Georgiou G , Eliopoulou M . Increased activity of lysosomal enzymes in the peritoneal fluid of bacterial peritonitis . Pediatrics . 2002 Mar ; 109 ( 3 ): E44 . 10.1542/peds.109.3.e44 11875172 0031
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Department of Internal Medicine & Pediatrics, Ghent University, Ghent, Belgium
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Department of Internal Medicine & Pediatrics, Ghent University, Ghent, Belgium
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Department of Internal Medicine & Pediatrics, Ghent University, Ghent, Belgium
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Introduction
Thyroid hormone replacement in central hypothyroidism (CHT) is more difficult than in primary hypothyroidism (PHT), putting patients at risk for inappropriate substitution. In this study, we compared the dosage of thyroid hormone replacement in patients with CHT with that of patients with PHT. In addition, we explored and compared quality of life (QoL) between both groups, based on two questionnaires, the SF-36 health score and the thyroid-specific ThyPRO score.
Methods
This is a monocentric, cross-sectional study, performed at the Ghent University Hospital (Belgium). We included 82 patients in total, 41 patients with CHT and 41 patients with PHT. At the time of inclusion, all patients had to have a stable dose of levothyroxine over the past 6 months and patients with PHT needed to be euthyroid (defined as having a thyroid-stimulating hormone level within the reference range, 0.2–4.5 mU/L). All data were retrieved from medical files, and questionnaires on QoL were self-administered.
Results
The CHT and PHT groups were comparable regarding age and BMI. There was no significant difference between both groups regarding total daily dose of levothyroxine (100 (93.75–125.00) vs 107.14 (75.00–133.93) μg in CHT and PHT, respectively; P = 0.87) or daily dose of levothyroxine per kg body weight (1.34 (1.16–1.55) vs 1.55 (1.16–1.82) μg/kg, respectively; P = 0.13). Serum levels of fT4 (P = 0.20) and fT3 (P = 0.10) also did not differ between the two groups and both were in the normal (mid)range for the two groups. Regarding QoL, patients with CHT scored worse in terms of depressive and emotional symptoms, impaired daily and social life.
Conclusion
We could demonstrate a difference in QoL between patients with CHT and PHT. Although patients with CHT had a somewhat lower levothyroxine substitution dose than patients with PHT, this difference was also not significant and probably does not explain the difference in QoL.
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Endocrine Laboratory, Department of Clinical Chemistry, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, Vrije Universiteit, Amsterdam, The Netherlands
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hypothyroidism of thyroidal and central origin in a neonatal screening program . Pediatrics . 2005 ; 116 ( 1 ): 168 – 73 . http://dx.doi.org/10.1542/peds.2004-2162 . 5 Stroek K , Heijboer AC , Bouva MJ , van der Ploeg CPB , Heijnen MA
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Departments of Pediatrics, Chicago, IL, USA
Departments of Committee on Genetics, The University of Chicago, Chicago, IL, USA
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Background: Thyroxine-binding globulin (TBG) is the major thyroid hormone transport protein in serum. Located on the long arm of the X chromosome, TBG (SERPINA7) gene mutations most commonly produce inherited partial TBG deficiency (TBG-PD). Objective: We report a novel TBG variant associated with TBG-PD identified in 2 different families of Ashkenazi origin residing in greater Chicago. Methods: Family 1: The proband was 12.6 years old when she presented for delayed puberty and was placed on L-T<sub>4</sub>. Although her serum TSH normalized, her serum T<sub>4</sub> remained low. Affected family members had low total T<sub>4</sub> and T<sub>3</sub>, but a normal free T<sub>4</sub> index, even when serum TSH concentrations were normal. Family 2: A 71-year-old male presented with a history of a nonfunctioning pituitary adenoma and normal pituitary axes except for low total T<sub>4</sub> and T<sub>3</sub>. His brother had a similar thyroid phenotype. Results: Following direct DNA sequencing, both index patients were found to carry a missense mutation in the TBG gene (c.751T>G) producing p.V215G. The proposita of family 1 was heterozygous and the proband in family 2 was hemizygous for the mutation. Isoelectric focusing showed no alteration in the TBG isoforms and in vitro expression demonstrated a TBG with reduced affinity for T<sub>4</sub>. Conclusions: We report a novel mutation in the TBG gene in 2 unrelated families that produces a molecule with reduced affinity for T<sub>4</sub> resulting in low serum T<sub>4</sub>. However, the physical properties of the mutant molecule remained unaltered as determined by isoelectric focusing.
Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Committee on Molecular Metabolism and Nutrition, University of Chicago, Chicago, Illinois, USA
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Department of Pediatrics, University of Chicago, Chicago, Illinois, USA
Committee on Genetics, University of Chicago, Chicago, Illinois, USA
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Background: Resistance to thyroid hormone beta (RTHβ) is characterized by elevated thyroid hormone and unsuppressed thyroid-stimulating hormone (TSH), caused by thyroid hormone receptor beta gene (THRB) defects. Most mutations producing RTHβ phenotype are located in CG-rich regions of THRB, encoding the T3-binding and hinge domains of the receptor. However, a region encompassing codons 384–425 is virtually devoid of RTHβ-causing mutations, termed “cold region.” Case: A 49-year-old woman was diagnosed with Hashimoto thyroiditis in her twenties, and levothyroxine (LT4) was initiated. During LT4 treatment she had slightly elevated free thyroxine and TSH levels, suggesting the possibility of RTHβ. Results: Sequencing of THRB identified a heterozygous missense variant c.1154G>A producing p.G385E in the proband. Since this variant of unknown significance (VUS) has not been reported in RTHβ individuals and considering its location in the “cold region” of THRB, we questioned its relevance. In silico functional prediction algorithms showed conflicting results: PolyPhen-2 predicted this VUS to be probably damaging with a score of 1.000, while SIFT predicted it to be tolerated with a score of 0.07, thus making additional investigations necessary. Genotyping of family members revealed that the proband’s mother and sister, without RTHβ phenotype, also harbored the same variant. This indicates that the THRB G385E variant is unlikely to manifest RTHβ phenotype and confirms its “cold” status. Conclusions: This study illustrates that assigning causality of a THRB VUS for RTHβ based only on in silico prediction algorithms is not always fully reliable. Additional phenotype-genotype segregation in family members can assist in predicting functional consequences of missense mutations.
Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam, The Netherlands
Department of Laboratory Medicine, Endocrine Laboratory, Amsterdam UMC location University of Amsterdam, Meibergdreef, Amsterdam, The Netherlands
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Department of Computer Science, Vrije Universiteit, Boelelaan, Amsterdam, The Netherlands
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Amsterdam Public Health, Amsterdam, The Netherlands
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Department of Endocrinology and Metabolism, Amsterdam UMC location University of Amsterdam, Meibergdreef, Amsterdam, The Netherlands
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Department of Paediatric Endocrinology, Emma Children’s Hospital, Amsterdam UMC, University of Amsterdam, Meibergdreef, Amsterdam, The Netherlands
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Department of Paediatric Endocrinology, Emma Children’s Hospital, Amsterdam UMC, University of Amsterdam, Meibergdreef, Amsterdam, The Netherlands
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Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam, The Netherlands
Department of Laboratory Medicine, Endocrine Laboratory, Amsterdam UMC location University of Amsterdam, Meibergdreef, Amsterdam, The Netherlands
Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands
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Department of Pediatrics, Division of Metabolic Disorders, Emma Children’s Hospital, Amsterdam UMC, University of Amsterdam, Meibergdreef, Amsterdam, The Netherlands
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Department of Laboratory Medicine, Amsterdam UMC, Vrije Universiteit, Boelelaan, Amsterdam, The Netherlands
Department of Laboratory Medicine, Amsterdam UMC, University of Amsterdam, Meibergdreef, Amsterdam, The Netherlands
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Department of Laboratory Medicine, Endocrine Laboratory, Amsterdam UMC location University of Amsterdam, Meibergdreef, Amsterdam, The Netherlands
Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands
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://doi.org/10.1186/1750-1172-5-17 ) 2 Robertson EF Wilkins AC Oldfield RK & Pollard AC . Blood spot thyroxine-binding globulin: a means to reduce recall rate in a screening strategy for neonatal hypothyroidism . Journal of Pediatrics 1980 97 604