A Novel Mutation (M310L) in the Thyroid Hormone Receptor β Causing Resistance to Thyroid Hormone in a Brazilian Kindred and a Neonate

Furlanetto, Tânia Weber; Kopp, Peter; Peccin, Simone; Gu, Wen; Jameson, J. Larry

doi:10.1006/mgme.2000.3088

Cited by 18 publications

(10 citation statements)

References 23 publications

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“…The only other Brazilian report on the genetic study of TRβ was published in 2000. The authors showed a new mutation (M310L) in a 17‐year‐old female patient who presented diffuse goitre, short stature and learning difficulties 12 …”

Section: Discussionmentioning

confidence: 98%

Clinical features and genetic analysis of four Brazilian kindreds with resistance to thyroid hormone

Magalhães

Dare

Santos

et al. 2007

Clinical Endocrinology

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Section: Discussionmentioning

confidence: 98%

Clinical features and genetic analysis of four Brazilian kindreds with resistance to thyroid hormone

Magalhães

Dare

Santos

et al. 2007

Clinical Endocrinology

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“…Reported experience of the management of RTH in pregnancy is sparse, and some women do not require treatment (Weiss et al ., 1990; Furlanetto et al. , 2000).…”

Section: Discussionmentioning

confidence: 99%

Neonatal thyrotoxicosis and maternal infertility in thyroid hormone resistance due to a mutation in the TRβ gene (M313T)

Blair

Mohan

Larcher

et al. 2002

Clinical Endocrinology

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We report two unusual cases of resistance to thyroid hormone (RTH) in one family. The first case, a male infant, had clinical features of thyrotoxicosis in the neonatal period. In the fourth week of life weight gain was poor despite a daily intake of standard infant formula almost double the infant's estimated requirements. At this time serum free T4 (fT4) was 60.7 pmol/l (Normal range [NR] 11-25 pmol/l) and TSH was inappropriately normal at 1.8 mU/l (NR 0.3-4.0 mU/l). The infant responded clinically and biochemically to propylthiouracil (PTU) at a dose of 10 mg/kg/day. Following 27 days of treatment serum fT4 was 22.6 pmol/l and TSH had risen to 24.9 mU/l. As the infant was thriving treatment was discontinued. The infant, now aged 6 months old, remains clinically euthyroid and developmentally normal off treatment. The infant's mother, from whom he had inherited a mutation of the thyroid receptor beta (TRbeta) gene (M313T), presented earlier with secondary infertility and clinical features of thyrotoxicosis. Treatment with PTU restored her fertility and she spontaneously conceived. In the subsequent pregnancy, clinical and biochemical features of RTH improved, and she gave birth to a small but healthy female infant. In the next pregnancy, resulting in the birth of the affected male infant, clinical and biochemical features of RTH worsened, and high doses of PTU were required to maintain a clinically euthyroid state. To our knowledge, these are the first case reports of RTH associated with added features of a hypermetabolic state in infancy and secondary infertility.

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“…The majority of these mutations result in a reduction in T 3 -binding and/or an impairment in transactivation (20). There have been described at least 122 mutations affecting THRB gene, including deletions, insertions, and much more frequently, point mutations (21)(22)(23). The largest family reported in the literature until now is composed by 36 persons harboring a missense mutation at THRB gene (24).…”

Section: Discussionmentioning

confidence: 99%

A novel mutation of thyroid hormone receptor beta (I431V) impairs corepressor release, and induces thyroid hormone resistance syndrome

Azevedo

Barra

Medeiros

et al. 2008

Arq Bras Endocrinol Metab

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Resistance to thyroid hormone (RTH) is a rare disorder characterized by variable tissue hyporesponsiveness to thyroid hormone, usually caused by mutations in the thyroid hormone receptor beta (TRbeta). We describe a large Brazilian family harboring a novel mutation affecting TRbeta gene and inducing RTH. A 14-year-old girl was found to have elevated free T4 and free T3 plasma concentrations in coexistence with unsuppressed TSH and a questionable goiter. The diagnosis of RTH was verified by identification of a novel mutation (I431V) in the TRbeta gene. Sixteen asymptomatic relatives of the proposita are also affected by the mutation. Functional studies showed that I431V mutation exerts dominant-negative effect on wild type TRbeta, mainly by impairment of ligand-dependent release of corepressor SMRT. The presence of this mutation reduces potency, but does not affect efficacy of thyroid hormone action, in accordance with the clinical picture of eumetabolism of the affected individuals.

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A Novel Mutation (M310L) in the Thyroid Hormone Receptor β Causing Resistance to Thyroid Hormone in a Brazilian Kindred and a Neonate

Cited by 18 publications

References 23 publications

Clinical features and genetic analysis of four Brazilian kindreds with resistance to thyroid hormone

Clinical features and genetic analysis of four Brazilian kindreds with resistance to thyroid hormone

Neonatal thyrotoxicosis and maternal infertility in thyroid hormone resistance due to a mutation in the TRβ gene (M313T)

A novel mutation of thyroid hormone receptor beta (I431V) impairs corepressor release, and induces thyroid hormone resistance syndrome

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