Evaluation of the tshr gene reveals polymorphisms associated with typical symptoms in primary congenital hypothyroidism
-
Erik Artur Cortinhas Alves
,
Raissa Coelho Andrade
Abstract
Primary congenital hypothyroidism (PCH) has an incidence of approximately 1 in each 3000–4000 live births. In the last two decades, nearly 50 types of the distinct inactivating mutations have already been described in the coding region of the tshr gene. The aim of present study was to investigate tshr gene mutations in patients with primary congenital hypothyroidism, analyzing a sample of 106 patients that were diagnosed with PCH. Genomic DNA was isolated from peripheral blood samples, and 10 exons from the TSH receptor were automatically sequenced. Five nucleotide alterations (P52T, N187N, A459A, L645L, and D727E. N187N and D727E polymorphisms) were associated with positive medical history. In view of the clinical, biochemical and molecular heterogeneity of the etiology of the PCH, the study of polymorphisms is critical for investigating the possible associations with prevailing symptoms of this disorder.
Acknowledgments
The authors would like to thank the patients and their parents for their participation in their study, as well as the staff at Laboratório de Genética Humana e Médica da Universidade do Estado do Pará.
Funding: Fundação de Amparo à Pesquisa do Estado do Pará (FAPESPA – grant number 236/2009); Capacitação e Aperfeiçoamento de Pessoal de Ensino Superior (CAPES) e Instituto Nacional de Genética Médica Populacional (Edital de Genética Clínica/CNPq – grant number 402050/2010-0); and Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq – grant number 573993/2008-4).
Disclosure statement: The authors report no conflict of interest.
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©2016 by De Gruyter
Artikel in diesem Heft
- Frontmatter
- EDITORIAL
- Newborn screening of metabolic disorders
- Current and future perspective of newborn screening: an Indian scenario
- Hawkinsinuria in two unrelated Greek newborns: identification of a novel variant, biochemical findings and treatment
- Leptin and neuropeptide Y levels in newborns
- Markers of bone metabolism, serum leptin levels and bone mineral density in preterm babies
- Adipokines in umbilical cord blood from children born large for gestational age
- REVIEW
- Diabetes insipidus in children
- ORIGINAL ARTICLES
- Essential oils reduce autonomous response to pain sensation during self-monitoring of blood glucose among children with diabetes
- The prevalence of melanocortin-4 receptor gene mutations in Slovak obese children and adolescents
- Physical activity does not attenuate the relationship between daily cortisol and metabolic syndrome in obese youth
- Evaluation of the tshr gene reveals polymorphisms associated with typical symptoms in primary congenital hypothyroidism
- The effect of tamoxifen on pubertal bone development in adolescents with pubertal gynecomastia
- Effects of methylphenidate on appetite and growth in children diagnosed with attention deficit and hyperactivity disorder
- CASE REPORTS
- An unusual case of hereditary nephrogenic diabetes insipidus (HNDI) affecting mother and daughter
- Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome and celiac disease in a 13-year-old girl: further evidence for autoimmunity?
- Prepubertal gynecomastia and chronic lavender exposure: report of three cases
- An adolescent girl referred with Cushing syndrome – does she or does she not have the syndrome?
Artikel in diesem Heft
- Frontmatter
- EDITORIAL
- Newborn screening of metabolic disorders
- Current and future perspective of newborn screening: an Indian scenario
- Hawkinsinuria in two unrelated Greek newborns: identification of a novel variant, biochemical findings and treatment
- Leptin and neuropeptide Y levels in newborns
- Markers of bone metabolism, serum leptin levels and bone mineral density in preterm babies
- Adipokines in umbilical cord blood from children born large for gestational age
- REVIEW
- Diabetes insipidus in children
- ORIGINAL ARTICLES
- Essential oils reduce autonomous response to pain sensation during self-monitoring of blood glucose among children with diabetes
- The prevalence of melanocortin-4 receptor gene mutations in Slovak obese children and adolescents
- Physical activity does not attenuate the relationship between daily cortisol and metabolic syndrome in obese youth
- Evaluation of the tshr gene reveals polymorphisms associated with typical symptoms in primary congenital hypothyroidism
- The effect of tamoxifen on pubertal bone development in adolescents with pubertal gynecomastia
- Effects of methylphenidate on appetite and growth in children diagnosed with attention deficit and hyperactivity disorder
- CASE REPORTS
- An unusual case of hereditary nephrogenic diabetes insipidus (HNDI) affecting mother and daughter
- Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome and celiac disease in a 13-year-old girl: further evidence for autoimmunity?
- Prepubertal gynecomastia and chronic lavender exposure: report of three cases
- An adolescent girl referred with Cushing syndrome – does she or does she not have the syndrome?
