Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutation

Vaidya, Bijay; Campbell, Viv; Tripp, J. H.; Spyer, Gill; Hattersley, Andrew T.; Ellard, Sian

doi:10.1111/j.1365-2265.2004.02040.x

Cited by 51 publications

(37 citation statements)

References 49 publications

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“…On the contrary, it is well known that hyperthyroidism too may lead to foetal growth retardation. This phenomenon is not restricted to autoimmune thyroid dysfunction, but is shown in patients with activating TSH receptor mutations where premature labour and low birth weight are a consistent finding (76). This would fit the results of the recently published, Generation R study, which suggests that high maternal fT 4 during the first trimester is associated with low birth weight indicating a much more complex relationship (77).…”

Section: Th Concentrations In the Offspringsupporting

confidence: 79%

Management of subclinical hypothyroidism in pregnancy: are we too simplistic?

Brabant

Peeters²,

Chan

et al. 2015

European Journal of Endocrinology

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Guideline advice of many societies on the management of subclinical hypothyroidism in pregnancy suggests treatment when TSH serum levels exceed 2.5 mU/l. Justification of this procedure is based on limited experience, mainly from studies carried out in patients with positive thyroid-specific antibodies and higher TSH levels that classically define the condition in the nonpregnant state. Taking into account a lack of clear understanding of the regulation of thyroid hormone transport through the utero-placental unit and in the absence of foetal markers to monitor the adequacy of thyroxine treatment, this review attempts to discuss currently available data and suggests a more cautious approach.

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Section: Th Concentrations In the Offspringsupporting

confidence: 79%

Management of subclinical hypothyroidism in pregnancy: are we too simplistic?

Brabant

Peeters²,

Chan

et al. 2015

European Journal of Endocrinology

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“…Antithyroperoxidase and/or antithyroglobulin antibodies have been found in three families but TSHR antibodies were always absent (18,21,31). The association of a constitutive activating TSHR mutation and thyroid autoimmunity remains exceptional but is of particular interest because the presence of such antibodies could lead to the erroneous diagnosis of Graves' disease (18).…”

Section: Circulating Thyroid Antibodiesmentioning

confidence: 99%

“…By light microscopy, a diffuse hyperplasia is encountered when the thyroid volume is normal or in case of a homogenous goiter (1,11,(18)(19)(20)(21). The general aspect is completely different from Graves' tissue due to the absence of any lymphocytic infiltrate or inflammatory features and the diagnosis must be suspected already from this routine examination when histological evaluation is possible (1, 2).…”

Section: Pathologymentioning

confidence: 99%

Genetic hyperthyroidism: hyperthyroidism due to activating TSHR mutations

Hebrant¹,

Staveren²,

Maenhaut³

et al. 2011

European Journal of Endocrinology

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Three syndromes affecting the thyroid gland are described in the literature separately: familial nonautoimmune hyperthyroidism, sporadic congenital nonautoimmune hyperthyroidism, and autonomous adenomas. Recent studies have shown that these three syndromes are caused by similar activating mutations of the TSH receptor gene (TSHR), and that the consequences of these mutations on the physiology and gene expression of the thyroid are qualitatively, but not quantitatively, similar. The three syndromes and two suggested unrecognized variants are in fact facets of the same disease, genetic hyperthyroidism due to TSHR mutations, the expression of which depends on the intensity of activation, its timing, and on the number of affected cells.

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“…The potential wider systemic effect of TSHR dysfunction upon body composition rather than just focal bone or adipose changes has been raised by the findings of Vaidya et al (2004). They assessed the prevalence of premature birth and low birth weight in families with non-autoimmune hypothyroidism and hyperthyroidism secondary to loss-of-function and gainof-function TSHR mutations respectively.…”

Section: Effects Of Tshr Dysfunction On Body Compositionmentioning

confidence: 99%

TSH receptor activation and body composition

Lloyd

Bursell²,

Gregory³

et al. 2009

Journal of Endocrinology

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The impacts of hyper and hypothyroidism on body composition, i.e. the relative quantity and quality of bone, adipose tissue and muscle, have traditionally been attributed uniquely to abnormal levels of free thyroid hormones. The presence of biologically active TSH receptors in bone, fat and muscle, raises the possibility that both thyroid hormones and TSH contribute to the changes in body composition associated with thyroid disease. This review evaluates the evidence for this in terms of the in vitro experimental approaches applied, data from in vivo sources (i.e. mouse models) and patient-based studies.

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Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutation

Abstract: Premature delivery and low birth weight are consistent features of NAH due to activating TSHR germline mutations. This suggests a possible role for the fetal thyroid axis in the regulation of the timing of delivery and possibly fetal growth.

Cited by 51 publications

References 49 publications

Management of subclinical hypothyroidism in pregnancy: are we too simplistic?

Management of subclinical hypothyroidism in pregnancy: are we too simplistic?

Genetic hyperthyroidism: hyperthyroidism due to activating TSHR mutations

TSH receptor activation and body composition

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