Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase
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David P. Sparling
,
Kendra Fabian
Abstract
Background: Thyroid dyshormonogenesis continues to be a significant cause of congenital hypothyroidism. Over time, forms of thyroid dyshormonogenesis can result in goiter, which can lead to difficult management decisions as the pathologic changes can both mimic or lead to thyroid cancer.
Methods: Herein we describe the cases of two brothers diagnosed with congenital hypothyroidism, with initial findings consistent with thyroid dyshormonogenesis. One brother eventually developed multinodular goiter with complex pathology on biopsy, resulting in thyroidectomy.
Results: Whole exome sequencing revealed the brothers carry a novel frameshift mutation in thyroperoxidase; the mutation, while not previously described, was likely both deleterious and pathogenic.
Conlcusions: These cases highlight the complex pathology that can occur within thyroid dyshormonogenesis, with similar appearance to possible thyroid cancer, leading to complex management decisions. They also highlight the role that a genetic diagnosis can play in interpreting the impact of dyshormonogenesis on nodular thyroid development, and the need for long-term follow-up in these patients.
Acknowledgments
The authors would like to thank Dr. Ronald Ghossein at Memorial Sloan Kettering Cancer Center in New York, NY, USA and Dr. Juan Rosai at Centro Diagnostico Italiano in Milan, Italy for their aid in this case.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: DPS was supported by a NIH/NIDDK grant to SEO (T32-DK065522).
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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©2016 by De Gruyter
Artikel in diesem Heft
- Frontmatter
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- Resistance to thyroid hormone α, revelation of basic study to clinical consequences
- Original Articles
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- Classification and clinical characterization of metabolically “healthy” obese children and adolescents
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- Compound heterozygous mutations (p.T561M and c.2422delT) in the TPO gene associated with congenital hypothyroidism
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- Urate crystals deposition in the feet of overweight juveniles and those with symptomatic hyperuricemia: a dual-energy CT study
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- Novel AVPR2 mutation causing partial nephrogenic diabetes insipidus in a Japanese family
- Pituitary gigantism: a retrospective case series
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- A novel OTX2 gene frameshift mutation in a child with microphthalmia, ectopic pituitary and growth hormone deficiency
- A novel nonsense mutation in the WFS1 gene causes the Wolfram syndrome
- A 33-year-old male patient with paternal derived duplication of 14q11.2–14q22.1~22.3: clinical course, phenotypic and genotypic findings
- Familial Turner syndrome: the importance of information
- De novo mutation of PHEX in a type 1 diabetes patient
- Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase
Artikel in diesem Heft
- Frontmatter
- Review
- Resistance to thyroid hormone α, revelation of basic study to clinical consequences
- Original Articles
- Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach
- Safety and metabolic impact of Ramadan fasting in children and adolescents with type 1 diabetes
- Waist-to-height ratio as a marker of low-grade inflammation in obese children and adolescents
- Classification and clinical characterization of metabolically “healthy” obese children and adolescents
- Long-term BH4 (sapropterin) treatment of children with hyperphenylalaninemia – effect on median Phe/Tyr ratios
- Compound heterozygous mutations (p.T561M and c.2422delT) in the TPO gene associated with congenital hypothyroidism
- Prevalence and clinical features of polycystic ovarian syndrome in adolescents with previous childhood growth hormone deficiency
- Urate crystals deposition in the feet of overweight juveniles and those with symptomatic hyperuricemia: a dual-energy CT study
- A novel ALMS1 homozygous mutation in two Turkish brothers with Alström syndrome
- Novel AVPR2 mutation causing partial nephrogenic diabetes insipidus in a Japanese family
- Pituitary gigantism: a retrospective case series
- Case Reports
- A novel OTX2 gene frameshift mutation in a child with microphthalmia, ectopic pituitary and growth hormone deficiency
- A novel nonsense mutation in the WFS1 gene causes the Wolfram syndrome
- A 33-year-old male patient with paternal derived duplication of 14q11.2–14q22.1~22.3: clinical course, phenotypic and genotypic findings
- Familial Turner syndrome: the importance of information
- De novo mutation of PHEX in a type 1 diabetes patient
- Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase
