Affordable Access

Access to the full text

Familial neonatal nonautoimmune hyperthyroidism due to a gain-of-function (D619G) thyrotropin-receptor mutation

Authors
  • Taha, Doris1
  • Adhikari, Amita1
  • Flore, Leigh Anne1
  • 1 Central Michigan University College of Medicine, Children’s Hospital of Michigan, USA , (United States)
Type
Published Article
Journal
Journal of Pediatric Endocrinology and Metabolism
Publisher
Walter de Gruyter GmbH
Publication Date
Nov 13, 2020
Volume
34
Issue
2
Pages
267–271
Identifiers
DOI: 10.1515/jpem-2020-0291
Source
De Gruyter
Keywords
License
Yellow

Abstract

ObjectivesActivating germline mutations of the thyroid-stimulating hormone receptor (TSHR) are responsible for a rare form of neonatal nonautoimmune hyperthyroidism (NAH). We report the first case of familial neonatal neonatal nonautoimmune associated with c.1856A>G (p.Asp619Gly) variant in the TSHR gene.Case presentationWe describe an eight-year-old African-American female presenting with neonatal NAH associated with an inherited heterozygous c.1856A>G (p.Asp619Gly) variant in the TSHR gene. This variant was previously described in one patient presenting with sporadic NAH in adolescence. Our patient was diagnosed with hyperthyroidism in the neonatal period. The mother had a history of hyperthyroidism and had thyroidectomy at the age of 4 years. The patient had goiter and elevated free thyroxine (FT4) and free triiodothyronine (FT3) levels that normalized with methimazole treatment; however, TSH level remained suppressed. Thyroid antibodies were negative. The patient also had bilateral exotropia, a trait shared by the mother and may represent a new association.ConclusionsFamilial neonatal NAH is associated with heterozygous c.1856A>G (p.Asp619Gly) variant of the TSHR gene.

Report this publication

Statistics

Seen <100 times