Poorly controlled congenital hypothyroidism due to an underlying Allgrove syndrome
Open accessAbstract
BACKGROUND: Congenital hypothyroidism of thyroidal origin (CHT) is a common disorder in pediatric endocrinology practices, which can be difficult to manage. Elevated thyrotropin (TSH) concentrations are in the great majority of cases explained by poor compliance to levothyroxine therapy. METHODS: Case description. RESULTS: We present a boy with CHT, with 2 heterozygous mutations in the TSH receptor gene, who showed persistently elevated TSH concentrations and psychomotor retardation, initially misinterpreted as malcompliance. At the age of 4 years, he was diagnosed with adrenal insufficiency, wherefore a broad diagnostic search was initiated. After the start of glucocorticoid replacement therapy, his TSH normalized and the levothyroxine could be lowered. At the age of 6 years, his TSH increased again, this time caused by malabsorption of levothyroxine due to esophageal achalasia. In retrospect, alacrima was also present and the diagnosis of Allgrove syndrome was genetically confirmed. The CHT was considered a separate disease entity. CONCLUSIONS: In case of persistently elevated TSH levels in children with CHT, causes other than noncompliance must be considered. Second, in establishing the cause of adrenal insufficiency, specific symptoms, such as alacrima, are easily overlooked. Third, Allgrove syndrome is a rare disorder, in which diagnostic delay can lead to potentially life-threatening complications.
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Systemic sclerosis and esophageal achalasia were found to cause severe hypothyroidism.
“Recently, systemic sclerosis and esophageal achalasia were found to cause severe hypothyroidism (50, 51).”
From Levothyroxine: conventional and novel drug delivery formulations. (2023) · cites this paper as [51]
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- Authors
- van Tellingen, V., Finken, M. J. J., Israëls, J., Hendriks, Y. M. C., Kamp, G. A., & van Santen, H. M.
- Affiliations
- Pediatrics and Genetics (US)
- University Medical Center Utrecht (NL)
- Tergooi (NL)
- Venue
- Hormone Research in Paediatrics
- Publisher
- S. Karger AG
- Published
- 2016
- Volume
- 86
- Issue
- 6
- Pages
- 420-424
- ISSN
- 1663-2818 (ISSN-L)
- 1663-2826
- PMC
- PMC5296928
- OpenAlex
- W2412328890
- Cited by
- 5
- References
- 14
- Citations by year
- 2026: 1 · 2022: 1 · 2020: 2 · 2016: 1
- FWCI
- 0.34
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Hormone Research in Paediatrics (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Utrecht University Repository (Utrecht University) (submittedVersion, other-oa)
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Thyroid Disorders and Treatments
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- congenital hypothyroidism, Allgrove syndrome, TSH receptor mutations, TSH elevation, achalasia, adrenal insufficiency, alacrima, glucocorticoid replacement therapy, psychomotor retardation, delayed diagnosis
- MeSH terms
- Adrenal Insufficiency, Child, Preschool, Congenital Hypothyroidism, Esophageal Achalasia, Glucocorticoids, Humans, Male, Mutation, Receptors, Thyrotropin, Thyrotropin, Hormone Replacement Therapy
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