Difficulties in Diagnosing and Managing Coexisting Primary Hypothyroidism and Resistance to Thyroid Hormone

Tran, Huy

doi:10.4158/ep.12.3.288

Cited by 9 publications

(6 citation statements)

References 9 publications

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“…The proband did not develop clinical or biochemical signs of hyperthyroidism indicating generalized RTH-b. This report is not the first report of hypothyroidism alongside RTH-b, as it has been established before in autoimmune hypothyroidism, CH due to ectopic lingual thyroid and CH due to thyroid dysgenesis (12)(13)(14)(15). The previously published cases of CH and RTH-b involve very similar initial biochemical analyses and follow-up.…”

Section: Discussionsupporting

confidence: 51%

Defective Levothyroxine Response in a Patient with Dyshormonogenic Congenital Hypothyroidism Caused by a Concurrent Pathogenic Variant in Thyroid Hormone Receptor-β

Vissers

Bikker

Garrelfs

et al. 2021

Thyroid

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Background: Pituitary resistance to thyroid hormone (PRTH) is often seen in congenital hypothyroidism (CH), presenting as elevated thyrotropin (TSH) values despite (high-)normal thyroid hormone (TH) values achieved by levothyroxine treatment. In this study, we describe a girl with CH who was referred because of difficulties interpreting thyroid function tests. She was thought to have PRTH associated with CH, but genetic studies discovered a pathogenic variant in THRB, causing resistance to TH (RTH-b). Methods: Clinical, genetic, and biochemical data of the proband's family were collected. Results: The 3-year-old girl was diagnosed with CH due to a homozygous pathogenic c.470del p.(Asn157Thrfs*3) SLC5A5 variant in the neonatal period. She needed a notably high levothyroxine dose to normalize TSH, leading to high free thyroxine levels. There were no signs of hyperthyroidism. Sequencing identified a heterozygous pathogenic c.947G>A p.(Arg316His) THRB variant. Conclusions: To our knowledge, this is the first report of concomitant SLC5A5 and THRB variants causing CH and RTH-b.

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Section: Discussionsupporting

confidence: 51%

Defective Levothyroxine Response in a Patient with Dyshormonogenic Congenital Hypothyroidism Caused by a Concurrent Pathogenic Variant in Thyroid Hormone Receptor-β

Vissers

Bikker

Garrelfs

et al. 2021

Thyroid

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“…Therefore, the lowest possible TSH level that does not lead to excessive thyroid hormone effect should be targeted by watching for tachycardia. Alternatively, the TSH levels in these patients could be kept at levels lower than the mean TSH level of the affected family members (38). Another approach to treatment could be to give more thyroid hormone together with a ␤-blocker to reduce the tachycardia.…”

Section: Discussionmentioning

confidence: 99%

Management of Differentiated Thyroid Cancer in the Presence of Resistance to Thyroid Hormone and TSH-Secreting Adenomas: A Report of Four Cases and Review of the Literature

Ünlütürk

Sriphrapradang²,

Erdoğan

et al. 2013

The Journal of Clinical Endocrinology &Amp; Metabolism

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“…Recently Barkof et al have demonstrated the autoimmune coexistence in RTH proposing the stimulation of the immune system at TRa's level as the underlying mechanism [26]. Frequently associated autoimmunity delays diagnosis, as happened in our celiac patient, and complicates the correct follow-up because the thyroid profile may change reflecting a variable hypothyroid state [29].…”

Section: Discussionmentioning

confidence: 92%

Variable clinical presentation and outcome in pediatric patients with resistance to thyroid hormone (RTH)

et al. 2011

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Resistance to thyroid hormone (RTH) is characterized by elevated levels of thyroid hormones, normal or slightly increased TSH levels respondent to TRH, resistance to thyroid hormone administration, and variable clinical expression. To describe the diverse clinical and biochemical findings of six children from five unrelated families with molecular diagnosis of RTH (0.5-12.7 years) and their follow-up (3-20 years). All RTH patients and 4 affected parents' harbored mutations in exons 9 or 10 of the thyroid receptor β gene: p.M313T (de novo), pN331D, p.L341P, p.L346F, and p.P453L. At consultation 5/6 had goiter, 4/6 tachycardia, and 3/5 learning disabilities. Median hormone levels were: T(4) 257.4 nmol/l (NR: 77.2-180.2); FreeT(4) 39.9 pmol/(NR:10.3-28.3); T(3) 4.28 nmol/l (NR:1.23-3.39) TSH 2.8 mUI/l (NR: 0.5-5) always responsive to TRH. TSH levels remained detectable after supraphysiologic T(3) administration while SHBG levels showed a paradoxical decrease in 4/6. Thyroid antibodies, initially present in two subjects, became positive in other two during follow-up. All patients grew normally and presented variable symptoms that were treated according to need. Two patients developed psychiatric disorders. Only one of the four affected parents exhibited clinical signs of RTH (tachycardia and depression). Parent's thyroid profile showed similar TSH and T(3) levels but lower T(4) and FT(4) than their children. RTH has a distinctive biochemical profile with highly variable clinical manifestations and outcomes. Its recognition and molecular characterization avoid misleading diagnosis. Treatment has to be instituted according to each subject's own clinical requirements.

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Difficulties in Diagnosing and Managing Coexisting Primary Hypothyroidism and Resistance to Thyroid Hormone

Cited by 9 publications

References 9 publications

Defective Levothyroxine Response in a Patient with Dyshormonogenic Congenital Hypothyroidism Caused by a Concurrent Pathogenic Variant in Thyroid Hormone Receptor-β

Defective Levothyroxine Response in a Patient with Dyshormonogenic Congenital Hypothyroidism Caused by a Concurrent Pathogenic Variant in Thyroid Hormone Receptor-β

Management of Differentiated Thyroid Cancer in the Presence of Resistance to Thyroid Hormone and TSH-Secreting Adenomas: A Report of Four Cases and Review of the Literature

Variable clinical presentation and outcome in pediatric patients with resistance to thyroid hormone (RTH)

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