Graves’ disease in a five-month-old boy with an unusual treatment course
-
Svetlana Azova
,
Farrah Rajabi
Abstract
Objectives
Graves’ disease (GD) is rare in children under age five years. Antithyroid drugs are typically first-line therapy but carry the risks of agranulocytosis and liver dysfunction.
Case presentation
A male infant with multiple congenital anomalies, left ventricular hypertrophy, and neurologic dysfunction developed GD at five months of life. The presence of chronic hepatitis complicated medical management. Potassium iodide was effective temporarily, but urgent thyroidectomy was required at nine months of age. Postoperatively, the patient developed a thyroid function pattern consistent with impaired pituitary sensitivity to thyroid hormone (TH) that responded to the addition of liothyronine. Exome sequencing revealed a heterozygous de novo duplication of the ATAD3 gene cluster, suggesting a possible mitochondrial disorder.
Conclusions
This case describes the youngest child to date to be diagnosed with endogenous GD and to successfully undergo definitive treatment with thyroidectomy. An underlying defect in mitochondrial function is suspected, suggesting a potential novel pathophysiologic link to early-onset thyroid autoimmunity. Additionally, this case illustrated the development of impaired pituitary sensitivity to TH following thyrotoxicosis of postnatal onset, which may contribute to our understanding of hypothalamic-pituitary-thyroid (HPT) axis development.
Funding source: National Institute of Diabetes and Digestive and Kidney Diseases
Award Identifier / Grant number: 5T32DK007699-39
Research funding: Svetlana Azova was supported by grant 5T32DK007699-39 from the National Institute of Diabetes and Digestive and Kidney Diseases.
Author contributions: S.A. conducted the majority of the literature review and wrote the manuscript. F.R., B.M., L.M., M.J., and A.W. provided relevant expert opinion and reviewed and edited the manuscript. A.D. and T.B. provided gross pathology and histopathology images, as well as the relevant descriptions, presented in Figure 1. J.S. provided critical review of the manuscript and supervised all aspects of its development. All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Competing interests: Authors state no conflict of interest.
Informed consent: Informed consent was obtained from all individuals included in this study.
Ethical approval: Research involving human subjects complied with all relevant national regulations and institutional policies and is in accordance with the tenets of the Helsinki Declaration (as revised in 2013). The local Institutional Review Board deemed the study exempt from review.
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Articles in the same Issue
- Frontmatter
- Review Article
- Inborn errors of immunity and metabolic disorders: current understanding, diagnosis, and treatment approaches
- Original Articles
- Evaluation of hydration status of children with obesity—a pilot study
- Relationship between insulin-like growth factor-1, insulin resistance and metabolic profile with pre-obesity and obesity in children
- Evaluation of Hemoglobin A1c before and after initiation of continuous glucose monitoring in children with type 1 diabetes mellitus
- Karyotype is associated with timing of ovarian failure in women with Turner syndrome
- The role of makorin ring finger protein-3, kisspeptin, and neurokinin B in the physiology of minipuberty
- Brain MRIs may be of low value in most children diagnosed with isolated growth hormone deficiency
- Significant improvement in bone mineral density in pediatric celiac disease: even at six months with gluten-free diet
- Population-based waist circumference reference values in Japanese children (0–6 years): comparisons with Dutch, Swedish and Turkish preschool children
- Extended growth charts for Indian children
- Rib fractures in infancy, case-series and register case-control study from Sweden
- Gonadotropin releasing hormone analogue therapy in girls with idiopathic precocious puberty/early-fast puberty: dynamics in adiposity indices, eating habits and quality of life
- Case Reports
- Transient benign hyperphosphatasemia due to COVID-19: the first case report
- ATP synthase deficiency due to m.8528T>C mutation – a novel cause of severe neonatal hyperammonemia requiring hemodialysis
- IgG4-related hypophysitis in adolescence
- Graves’ disease in a five-month-old boy with an unusual treatment course
- Oral sodium phenylbutyrate for hyperammonemia associated with congenital portosystemic shunt: a case report
- Severe multisystem organ dysfunction in an adolescent with simultaneous presentation of Addison’s and Graves’ disease
