Publications by authors named "Claire Briet"

Halogenated bisphenol A (BPA) derivatives are produced during disinfection treatment of drinking water or are synthesized as flame retardants (TCBPA or TBBPA). BPA is considered as an endocrine disruptor especially on human follicle-stimulating hormone receptor (FSHR). Using a global experimental approach, we assessed the effect of halogenated BPA derivatives on FSHR activity and estimated the risk of halogenated BPA derivatives to the reproductive health of exposed populations.

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Introduction: The clinical manifestations of Cushing's syndrome are variable, but an important number of patients present a metabolic syndrome, strongly associated with hepatic steatosis. The aim of this study was to determine the prevalence of Metabolic Dysfunction Associated Steatotic Liver Disease (MASLD) at the diagnosis of Cushing's syndrome.

Methods: We conducted a single-center retrospective study at Angers Hospital (France) between 2010 and 2020.

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Objective: Targeted therapy (TT) with BRAF/MEK inhibitors has emerged as a potential treatment in papillary craniopharyngiomas (PCPs). However, standardized data on large cohorts are lacking. Our study aimed to assess real-life efficacy and safety of BRAF/MEK inhibition in patients with PCPs.

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Pituitary deficiency, or hypopituitarism, is a rare chronic disease. It is defined by insufficient synthesis of one or more pituitary hormones (growth hormone, TSH, ACTH, LH-FSH, prolactin), whether or not associated with arginine vasopressin deficiency (formerly known as diabetes insipidus). In adult patients, it is usually acquired (notably during childhood), but can also be congenital, due to abnormal pituitary development.

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Immune checkpoint inhibitors (ICIs) are currently the key therapy for several cancers. Among immune-related adverse events, thyroid dysfunction is the most frequent. We review this thyroid dysfunction, with recent data on epidemiology, diagnostic considerations, management and risk factors.

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Thyrotropic adenomas (TSH-PitNET) are the rarest pituitary tumours. Most TSH-PitNETs are secreting adenoma, with a biological picture of inappropriate TSH secretion (moderately elevated TSH, elevated FT3 and FT4). Patients present most often clinical hyperthyroidism, but with more moderate symptoms than in peripheral hyperthyroidism.

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Article Synopsis
  • Gonadectomy is advised for patients with Turner syndrome (TS) and 45,X/46,XY karyotype due to the risk of gonadoblastoma (GB), but the evidence supporting this recommendation is weak.
  • This study aimed to analyze the prevalence and characteristics of GB linked to different types of Y chromosomal material in affected patients.
  • Findings revealed a 12.8% prevalence of GB among 70 patients studied, with complete Y chromosome presence identified as a significant risk factor, suggesting the need for earlier gonadectomy in these cases.*
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The SFE-AFCE-SFMN 2022 consensus deals with the management of thyroid nodules, a condition that is a frequent reason for consultation in endocrinology. In more than 90% of cases, patients are euthyroid, with benign non-progressive nodules that do not warrant specific treatment. The clinician's objective is to detect malignant thyroid nodules at risk of recurrence and death, toxic nodules responsible for hyperthyroidism or compressive nodules warranting treatment.

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Context: Resistance to thyroid hormone β syndrome (RTHβ) is caused by pathogenic variants in the THRB gene, but such variants are found in only 85% of cases. We report the case of a patient with RTHβ phenotype but for whom we found a pathogenic variant of the THRB gene in a mosaic state.

Case Description: The patient is a 52-year-old woman with clinical and biological signs of RTHβ.

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Context: Ectopic acromegaly is a consequence of rare neuroendocrine tumors (NETs) that secrete GHRH. This abnormal GHRH secretion drives GH and IGF-1 excess, with a clinical presentation similar to classical pituitary acromegaly. Identifying the underlying cause for the GH hypersecretion in the setting of ectopic GHRH excess is, however, essential for proper management both of acromegaly and the NET.

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Aim: To describe baseline characteristics and follow-up data in patients with lipodystrophy syndromes treated with metreleptin in a national reference network, in a real-life setting.

Patients And Methods: Clinical and metabolic data from patients receiving metreleptin in France were retrospectively collected, at baseline, at 1 year and at the latest follow-up during treatment.

Results: Forty-seven patients with lipodystrophy including generalized lipodystrophy (GLD; n = 28) and partial lipodystrophy (PLD; n = 19) received metreleptin over the last decade.

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Background: Many studies link G protein-coupled receptors (GPCRs) to cancer. Some endocrine tumors are unresponsive to standard treatment and/or require long-term and poorly tolerated treatment. This study explored, by bioinformatics analysis, the tumoral profiling of the GPCR transcriptome to identify potential targets in these tumors aiming at drug repurposing.

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Differentiated thyroid cancers are more frequent in women than in men. These different frequencies may depend on differences in patient's behavior and in thyroid investigations. However, an impact on sexual hormones is likely, although this has been insufficiently elucidated.

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Context: Radioiodine-refractory thyroid cancers have poor outcomes and limited therapeutic options (tyrosine kinase inhibitors) due to transient efficacy and toxicity of treatments. Therefore, combinatorial treatments with new therapeutic approaches are needed. Many studies link G protein-coupled receptors (GPCRs) to cancer cell biology.

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Article Synopsis
  • Pregnant women with high cortisol levels (hypercortisolism) have a higher chance of having babies early (prematurity) and may face health issues later, like high blood pressure or diabetes.
  • A study looked at 60 women with a history of Cushing's disease to see how their cortisol levels affected their pregnancies.
  • Results showed that women with high cortisol during pregnancy had a high risk of early births, and those not having normal cortisol levels were more likely to have complications, so doctors need to keep a close watch on them.
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Objective: Somatostatin receptor ligands (SRL) are useful to control central hyperthyroidism in patients with thyrotropin-secreting pituitary adenoma (TSH pituitary adenoma). The aim of this study was to describe the frequency of thyrotropin deficiency (TSH deficiency) in patients with TSH pituitary adenoma treated by SRL.

Design: Retrospective study.

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Resistance to thyroid hormone (RTH) is a syndrome characterized by impaired sensitivity of tissues to thyroid hormone (TH). The alteration of TH-binding proteins, such as in Familial Dysalbuminemic Hyperthyroxinemia (FDH), can mimic the abnormal serum thyroid tests typical of RTH. We aimed to characterize a population referred to our center with suspected RTH and estimate the proportion of patients with FDH.

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Thyroid hormones exert their action by binding to their thyroid hormone receptors among other mechanisms. They are involved in different cardiac functions, including contractility and rhythm. The mutation of thyroid hormone receptor β is the main cause of thyroid hormone resistance.

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Objective: To explore the programmed death-ligand 1 (PD-L1) expression in varied subtypes of pituitary neuroendocrine tumors with assessment of their clinical behavior at diagnosis and follow-up.

Methods: We conducted a retrospective monocentric study, including all patients operated in the Academic Hospital of Angers (France) for a pituitary neuroendocrine tumor between 2012 and 2018. PDL-1 immunostaining was performed using a European Conformity-In Vitro Diagnostic-labeled anti-PDL1 antibody (clone 22C3).

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Resistance to thyroid hormone alpha (RTHα) is a rare and under-recognized genetic disease caused by mutations of , the gene encoding thyroid hormone receptor α1 (TRα1). We report here two novel missense mutations (M259T, T273A) in patients with RTHα. We combined biochemical and cellular assays with modeling to assess the capacity of mutant TRα1 to bind triiodothyronine (T3), to heterodimerize with RXR, to interact with transcriptional coregulators, and to transduce a T3 transcriptional response.

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Background: The presence of chemical pollutants in the environment can affect human health. Epidemiological and in vivo experimental studies reveal reprotoxic effects (undescended testis) of phthalates (diethylhexyl phthalate (DEHP), dibutyl phthalate (DBP)) and bisphenol A (BPA), resulting in particular of a decrease in INSL3 (Insulin-Like 3 peptide) production. This hormone is essential for normal testis development and acts on a G protein-coupled receptor: RXFP2.

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Aim: To assess the relationship between sleep quality, fear of hypoglycemia, glycemic variability and psychological well-being in type 1 diabetes mellitus.

Methods: Our data were provided by the VARDIA Study, a multicentric cross-sectional study conducted between June and December 2015. Sleep characteristics were assessed by the Pittsburgh Sleep Quality Index (PSQI).

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Compared to benign adrenal lesions, secreting or otherwise, malignant adrenocortical carcinoma is rare. Overall prognosis is poor, with <50% 5-year survival. Various prognostic factors have been identified, some tumor-related and others directly linked to surgical treatment.

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