open access
Vol 70, No 1 (2019)
Case report
Submitted: 2018-03-20
Accepted: 2018-10-08
Published online: 2018-10-30
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Resistance to thyroid hormone with a mutation of the thyroid β receptor gene in an eight-month-old infant — a case report
Elżbieta A. Foryś-Dworniczak1, Carla Moran1, Barbara Kalina-Faska1, Ewa Małecka-Tendera1, Agnieszka Zachurzok1
Affiliations- Department of Paediatrics and Paediatric Endocrinology, School of Medicine in Katowice, Katowice, Poland
open access
Vol 70, No 1 (2019)
Case report
Submitted: 2018-03-20
Accepted: 2018-10-08
Published online: 2018-10-30
Abstract
Introduction: Resistance to thyroid hormone (RTHβ) is a rare syndrome of impaired tissue responsiveness to thyroid hormones (THs). The disorder has an autosomal dominant or recessive pattern of inheritance. Most of the reported mutations have been detected in the thyroid hormone receptor β gene (THRβ).
Case report: Authors present an eight-month-old infant with poor linear growth, decreased body weight, tachycardia, positive family history, and neonatal features suggestive of RTHβ. Both our patient and his mother had elevated free thyroxine, free triiodothyronine, and non-suppressed thyrotropin (TSH) concentration. The fluorescent sequencing analysis showed a heterozygous mutation c.728G > A in TRβ gene. This pathogenic variant is known to be associated with THR.
Conclusions: The clinical presentation of RTHb is variable, ranging from isolated biochemical abnormalities to symptoms of thyrotoxicosis or hypothyroidism. The syndrome should be suspected in patients with increased serum TH level, accompanied by a normal or elevated TSH concentration. The affected patients require individualised management.
Abstract
Introduction: Resistance to thyroid hormone (RTHβ) is a rare syndrome of impaired tissue responsiveness to thyroid hormones (THs). The disorder has an autosomal dominant or recessive pattern of inheritance. Most of the reported mutations have been detected in the thyroid hormone receptor β gene (THRβ).
Case report: Authors present an eight-month-old infant with poor linear growth, decreased body weight, tachycardia, positive family history, and neonatal features suggestive of RTHβ. Both our patient and his mother had elevated free thyroxine, free triiodothyronine, and non-suppressed thyrotropin (TSH) concentration. The fluorescent sequencing analysis showed a heterozygous mutation c.728G > A in TRβ gene. This pathogenic variant is known to be associated with THR.
Conclusions: The clinical presentation of RTHb is variable, ranging from isolated biochemical abnormalities to symptoms of thyrotoxicosis or hypothyroidism. The syndrome should be suspected in patients with increased serum TH level, accompanied by a normal or elevated TSH concentration. The affected patients require individualised management.
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Keywords
resistance to thyroid hormone; thyroid hormone receptor β; infant
About this articleTitle
Resistance to thyroid hormone with a mutation of the thyroid β receptor gene in an eight-month-old infant — a case report
Journal
Issue
Article type
Case report
Pages
124-130
Published online
2018-10-30
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2556
Article views/downloads
1206
DOI
10.5603/EP.a2018.0082
Pubmed
Bibliographic record
Endokrynol Pol 2019;70(1):124-130.
Keywords
resistance to thyroid hormone
thyroid hormone receptor β
infant
Authors
Elżbieta A. Foryś-Dworniczak
Carla Moran
Barbara Kalina-Faska
Ewa Małecka-Tendera
Agnieszka Zachurzok
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