{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T23:01:09Z","timestamp":1788908469497,"version":"build-2803163510"},"reference-count":28,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      Dyshormonogenetic goiter is one of the most common causes of hypothyroidism in children and adolescents in iodine nonendemic areas. The exact genotype-phenotypic correlations (GPCs) and risk categorization of hypothyroid phenotypes of dyshormonogenetic mutations are largely speculative. The genetic studies in pediatric dyshormonogenesis are very sparse from Indian sub-continent. In this context, we analyzed the implications of TPO,\n                      <jats:italic toggle=\"yes\">NIS<\/jats:italic>\n                      , and\n                      <jats:italic toggle=\"yes\">DUOX2<\/jats:italic>\n                      gene mutations in hypothyroid children with dyshormonogenetic hypothyroidism (DH) from South India.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods:<\/jats:title>\n                    <jats:p>\n                      This is interdisciplinary prospective study, we employed eight sets of primers and screened for 142 known single nucleotide polymorphisms in\n                      <jats:italic toggle=\"yes\">TPO<\/jats:italic>\n                      ,\n                      <jats:italic toggle=\"yes\">NIS<\/jats:italic>\n                      , and\n                      <jats:italic toggle=\"yes\">DUOX2<\/jats:italic>\n                      genes. The subjects were children and adolescents with hypothyroidism due to dyshormonogenetic goiter. Congenital hypothyroidism, iodine deficiency, and Hashimoto's thyroiditis cases were excluded.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      We detected nine mutations in 8\/22 (36%) children. All the mutations were observed in the intronic regions of\n                      <jats:italic toggle=\"yes\">NIS<\/jats:italic>\n                      gene and none in\n                      <jats:italic toggle=\"yes\">TPO<\/jats:italic>\n                      or\n                      <jats:italic toggle=\"yes\">DUOX2<\/jats:italic>\n                      genes. Except for bi-allelic, synonymous polymorphism of\n                      <jats:italic toggle=\"yes\">TPO<\/jats:italic>\n                      gene in child number 14, all other mutations were heterozygous in nature. GPCs show that our mutations significantly expressed the phenotypic traits such as overt hypothyroidism, goiter, and existence of family history. Other phenotypic characters such as sex predilection, the age of onset and transitory nature of hypothyroidism were not significantly affected by these mutations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>\n                      <jats:italic toggle=\"yes\">NIS<\/jats:italic>\n                      gene mutations alone appears to be most prevalent mutations in DH among South Indian children and these mutations significantly influenced phenotypic expressions such as severity of hypothyroidism, goiter rates, and familial clustering.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/2230-8210.192923","type":"journal-article","created":{"date-parts":[[2016,10,24]],"date-time":"2016-10-24T03:57:33Z","timestamp":1477281453000},"page":"816-824","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":8,"title":["Genotype-phenotype correlations of dyshormonogenetic goiter in children and adolescents from South India"],"prefix":"10.4103","volume":"20","author":[{"given":"Bangaraiah Gari","family":"Ramesh","sequence":"first","affiliation":[{"name":"Department of Biochemistry, MediCiti Institute of Medical Sciences, Hyderabad, Telangana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Panchangam Ramakanth","family":"Bhargav","sequence":"additional","affiliation":[{"name":"Department of Endocrine Surgery, Endocare Hospital, Vijayawada, Andhra Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bangaraiah Gari","family":"Rajesh","sequence":"additional","affiliation":[{"name":"Department of Anatomy, MediCiti Institute of Medical Sciences, Hyderabad, Telangana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nangedda Vimala","family":"Devi","sequence":"additional","affiliation":[{"name":"Department of Endocrine Surgery, Endocare Hospital, Vijayawada, Andhra Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajagopalan","family":"Vijayaraghavan","sequence":"additional","affiliation":[{"name":"Department of Research and Development, Saveetha University, Chennai, Tamil Nadu, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bhongir Aparna","family":"Varma","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, MediCiti Institute of Medical Sciences, Hyderabad, Telangana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-20260327","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1089\/105072503768499671","article-title":"An outline of inherited disorders of the thyroid hormone generating system","volume":"13","author":"Knobel","year":"2003","journal-title":"Thyroid"},{"key":"R2-20260327","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1111\/j.1365-2265.1977.tb01340.x","article-title":"The spectrum of thyroid disease in a community: The Whickham survey","volume":"7","author":"Tunbridge","year":"1977","journal-title":"Clin Endocrinol (Oxf)"},{"key":"R3-20260327","first-page":"1061","article-title":"Clinical endocrinology in India","volume":"79","author":"Kochupillai","year":"2000","journal-title":"Curr Sci"},{"key":"R4-20260327","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1007\/BF02795771","article-title":"Disorders of thyroid gland in India","volume":"64","author":"Desai","year":"1997","journal-title":"Indian J Pediatr"},{"issue":"5 Suppl","key":"R5-20260327","doi-asserted-by":"crossref","first-page":"S209","DOI":"10.1590\/S0021-75572007000700013","article-title":"Hypothyroidism in children: Diagnosis and treatment","volume":"83","author":"Setian","year":"2007","journal-title":"J Pediatr (Rio J)"},{"key":"R6-20260327","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1136\/jmg.2004.024158","article-title":"Genetics of congenital hypothyroidism","volume":"42","author":"Park","year":"2005","journal-title":"J Med Genet"},{"key":"R7-20260327","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1136\/adc.67.1.87","article-title":"Congenital hypothyroidism detected by neonatal screening: Relationship between biochemical severity and early clinical features","volume":"67","author":"Grant","year":"1992","journal-title":"Arch Dis Child"},{"key":"R8-20260327","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1046\/j.1365-2265.1998.3791206.x","article-title":"Congenital hypothyroidism in Wales (1982-1993): Demographic features, clinical presentation and effects on early neurodevelopment","volume":"48","author":"Law","year":"1998","journal-title":"Clin Endocrinol (Oxf)"},{"key":"R10-20260327","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1089\/105072503321086962","article-title":"Laboratory medicine practice guidelines. 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