Poorly Controlled Congenital Hypothyroidism due to an Underlying Allgrove Syndrome

V. Van Tellingen, M. J.J. Finken, J. Israëls, Y. M.C. Hendriks, G. A. Kamp, H. M. Van Santen

Onderzoeksoutput: Bijdrage aan tijdschriftArtikelpeer review

3 Citaten (Scopus)


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.

Originele taal-2Engels
Pagina's (van-tot)420-424
Aantal pagina's5
TijdschriftHormone Research in Paediatrics
Nummer van het tijdschrift6
StatusGepubliceerd - 1 jan. 2017
Extern gepubliceerdJa


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