Familial neonatal nonautoimmune hyperthyroidism due to a gain-of-function (D619G) thyrotropin-receptor mutation
-
Doris Taha
,
Amita Adhikari
Abstract
Objectives
Activating 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 presentation
We 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.
Conclusions
Familial neonatal NAH is associated with heterozygous c.1856A>G (p.Asp619Gly) variant of the TSHR gene.
Research funding: None declared.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Competing interests: The authors have no conflict of interest to disclose.
References
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Articles in the same Issue
- Frontmatter
- Review Article
- The current review of adolescent obesity: the role of genetic factors
- Original Articles
- Trends in abdominal obesity among Chinese children and adolescents, 1993–2015
- Association of childhood obesity with retinal microvasculature and corneal endothelial cell morphology
- Communication frequency between visits is associated with improved glycemic control in pediatric diabetes
- Increased length of stay and hospital charges in adolescents with type 1 diabetes and psychiatric illness
- Distance from the endocrinology clinic and diabetes control in a rural pediatric population
- Care of children with type 1 diabetes mellitus in school – An interventional study
- Treatment and long-term follow-up of patients diagnosed with type 1 diabetes mellitus before age 5
- Diabetes distress in Indian children with type 1 diabetes mellitus and their mothers
- Impact of lockdown for COVID-19 pandemic in Indian children and youth with type 1 diabetes from different socio-economic classes
- First report on the nationwide prevalence of paediatric type 1 diabetes in Serbia and temporal trends of diabetes ketoacidosis at diagnosis—a multicentre study
- Factors affecting thyroid volume in adolescent students attending a rural middle school in East Hangzhou, China
- Impact of maternal thyroid disease on neonatal thyroid status
- Impact of growth hormone treatment on scoliosis development and progression: analysis of 1128 patients with idiopathic short stature
- Short Communication
- Are we ignoring coexisting rhabdomyolysis as an important aggravating factor for acute kidney injury among childhood diabetic ketoacidosis?
- Case Reports
- Microdeletion in the IGF-1 receptor gene of a patient with short stature and obesity: a case report
- SLC25A19 deficiency and bilateral striatal necrosis with polyneuropathy: a new case and review of the literature
- Familial neonatal nonautoimmune hyperthyroidism due to a gain-of-function (D619G) thyrotropin-receptor mutation
- Transient neonatal diabetes due to a disease causing novel variant in the ATP-binding cassette subfamily C member 8 (ABCC8) gene unmasks maturity-onset diabetes of the young (MODY) diabetes cases within a family
