Prolonged and Severe Gestational Thyrotoxicosis Due to Enhanced hCG Sensitivity of a Mutant Thyrotropin Receptor

Coulon, A.-L.; Savagner, Frédérique; Briet, Claire; Vernin, M.; Munier, Mathilde; Chabre, Olivier; Rodien, Patrice

doi:10.1210/jc.2015-3670

Cited by 33 publications

(23 citation statements)

References 5 publications

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“…In fact, two cases of HG and gestational thyrotoxicosis caused by mutations of the thyroid stimulating hormone receptor (TSHR) have been described (Coulon et al, 2016; Rodien et al, 2004). The mutations, in the lysine 183 into asparagine or arginine, located in the extracellular domain of the TSHR resulted in increased sensitivity to hCG.…”

Section: Pathogenesismentioning

confidence: 99%

Nausea and vomiting of pregnancy - What's new?

Bustos

Venkataramanan²,

Caritis

2017

Autonomic Neuroscience

114

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Nausea and vomiting of pregnancy (NVP) is one of the most common disorders of pregnancy. The symptoms occur predominantly during the first trimester, although in a subgroup of patients they can continue throughout the entire pregnancy and can affect the woman’s quality of life. A small percentage of women develop a severe form of NVP called hyperemesis gravidarum (HG) that if left untreated may lead to significant maternal morbidity and adverse birth outcomes. Overall, the morbidity in pregnant women with NVP is significant, although it tends to be underestimated. The pathogenesis of NVP remains unclear, but there is consensus that the disorder is multifactorial and that various genetic, endocrine and infectious factors may be involved. The treatment of NVP can be challenging as the optimal targets for therapy are not known. Currently, the therapy used depends on the severity of the disorder and it is focused on improving the symptoms while minimizing risks to mother and fetus. Therapies range from dietary changes, pharmacologic treatment or hospitalization with intravenous fluid replacement and nutrition therapy. The aims of this review are 1) to provide an overview of NVP, 2) to present possible links between the most important factors associated with the pathogenesis of NVP and 3) to discuss the effectiveness and safety of the pharmacologic and non-pharmacologic options available to treat this disorder.

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Section: Pathogenesismentioning

confidence: 99%

Nausea and vomiting of pregnancy - What's new?

Bustos

Venkataramanan²,

Caritis

2017

Autonomic Neuroscience

114

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“…Besides the amount of hCG levels, TSH action can also be impaired due to the presence of increased TPO-Abs, higher BMI, and parity (≥2) [26]. In 2 case reports, gestational thyrotoxicosis has been described in the presence of normal levels of serum hCG due to a mutation endowing the TSH receptor with increased sensitivity to serum hCG compared with that of the wild-type receptor [27, 28]. …”

Section: Established Variables Contributing To Variation In Thyroid Fmentioning

confidence: 99%

Variables Contributing to Thyroid (Dys)Function in Pregnant Women: More than Thyroid Antibodies?

Veltri

Poppe

2018

Eur Thyroid J

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Variability in thyroid function in pregnant women is the result of 2 main determinants, each accounting for approximately half of it. The first is the genetically determined part of which the knowledge increases fast, but most remains to be discovered. The second determinant is caused by an ensemble of variables of which thyroid autoimmunity is the best known, but also by others such as parity, smoking, age, and BMI. More recently, new candidate variables have been proposed, such as iron, endocrine disruptors, and the ethnicity of the pregnant women. In the future, the diagnosis and treatment of thyroid (dys)function may be optimized by the use of each individual’s pituitary-thyroid set point, corrected with a factor taking into account the impact of nongenetically determined variables.

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“…In some cases, GPCR gain‐of‐function mutants cause endocrine disorders through mechanisms other than increased constitutive activity (Figure B). First, the p.K183R and p.K183N mutants of TSHR exhibit hypersensitivity to human chorionic gonadotrophin (hCG), a hormone that only weakly stimulates the wild‐type TSHR . Patients carrying these mutations show excessive thyroid hormone secretion in the presence of normal blood levels of hCG.…”

Section: Gpcr Gain‐of‐function Mechanisms Other Than Constitutive Actmentioning

confidence: 99%

Gain‐of‐function mutations in G‐protein–coupled receptor genes associated with human endocrine disorders

Fukami

Suzuki

Igarashi

et al. 2017

Clinical Endocrinology

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SummaryThe human genome encodes more than 700 G-protein-coupled receptors (GPCRs), many of which are involved in hormone secretion. To date, more than 100 gain-offunction (activating) mutations in at least ten genes for GPCRs, in addition to several loss-of-function mutations, have been implicated in human endocrine disorders.Previously reported gain-of-function GPCR mutations comprise various missense substitutions, frameshift mutations, intragenic inframe deletions and copy-number gains.

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Prolonged and Severe Gestational Thyrotoxicosis Due to Enhanced hCG Sensitivity of a Mutant Thyrotropin Receptor

Abstract: Severe and lasting gestational thyrotoxicosis with normal hCG concentration should lead to sequencing of the TSH receptor gene.

Cited by 33 publications

References 5 publications

Nausea and vomiting of pregnancy - What's new?

Nausea and vomiting of pregnancy - What's new?

Variables Contributing to Thyroid (Dys)Function in Pregnant Women: More than Thyroid Antibodies?

Gain‐of‐function mutations in G‐protein–coupled receptor genes associated with human endocrine disorders

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