El sindrome tiro-gastrico : screening en 410 pacientes atendidos pro patologia tiroidea

in Abstract book - 54 Congreso Sociedad Espanola de Endocrinologia y nutrition (2012, May 23)

Mutations of calcium-sensing receptor gene: two novel mutations and overview of impact on calcium homeostasis

in European Journal of Endocrinology (2011)

Objective: Genetic disorders of calcium metabolism arise in a familial or sporadic setting. The calcium-sensing receptor (CaSR) plays a key role in maintaining calcium homeostasis and study of the CASR ... [more ▼]

Objective: Genetic disorders of calcium metabolism arise in a familial or sporadic setting. The calcium-sensing receptor (CaSR) plays a key role in maintaining calcium homeostasis and study of the CASR gene can be clinically useful in determining etiology and appropriate therapeutic approaches. We report two cases of novel CASR gene mutations that illustrate the varying clinical presentations and discuss these in terms of the current understanding of CaSR function. Patients and Methods: A 16 yr-old patient had mild hypercalcemia associated with low-normal urinary calcium excretion and normal-to-high parathyroid hormone (PTH) levels. Because of negative family history, familial hypocalciuric hypercalcemia (FHH) was originally excluded. The second patient was a 54 yr-old man with symptomatic hypocalcemia, hyperphosphatemia, low PTH, and mild hypercalciuria. Familial investigation revealed the same phenotype in the patient's sister. The coding region of the CaSR gene was sequenced in both probands and their available first-degree relatives. Results: The first patient had a novel heterozygous inactivating CASR mutation in exon 4, which predicted a p.A423K change; genetic analysis was negative in the parents. The second patient had a novel heterozygous activating CASR mutation in exon 6, which predicted a p.E556K change; the affected sister of the proband was also positive. Conclusions: We reported two novel heterozygous mutations of the CASR gene, an inactivating mutation in exon 4 and the first activating mutation reported to date in exon 6. These cases illustrate the importance of genetic testing of CASR gene to aid correct diagnosis and to assist in clinical management. [less ▲]

Impact of two novel mutations of calcium sensing receptor (CaSR) gene on calcium metabolism : two clinical case reports

in Endocrine Abstracts - 13th European Congress of Endocrinology (2011)

Un nouveau marqueur tumoral pour le carcinome parathyroïdien? Résultats observés chez 24 patients

in Annales d'Endocrinologie (2010, September), 71(5), 350-351

Hypergastrinemia, parietal cell antibodies and vitamine B12 deficiency in a prospective series of 240 patients with autoimmune thyroiditis: from autoimmune gastritis to enterochomafi n cells hyperplasia

in European Neuroendocrine Association - Liège, 22-25 septembre 2010 (2010, September)

Deux nouvelles mutations dans le gène du récepteur du calcium (CASR) entraînant respectivement une hypo- et une hypercalcémie

in 27ème Congrès de la Société Française d'Endocrinologie - Deauville, 29 septembre - 2 octobre 2010 (2010, September)

The ratio of PTH as measured by third and second generation assays as a marker for parathyroid carcinoma

in Clinical Chemistry (2010, June), 56(S6), 188

The ratio of PTH as measured by third and second generation assays as a marker for parathyroid carcinoma

in 12th European Congress of Endocrinology - ICE 2010 (2010)

Cabergoline and the risk of valvular lesions in endocrine disease.

in European Journal of Endocrinology (2008), 159(1), 1-5

AIMS: The cardiac valvular risk associated with lower exposure to cabergoline in common endocrine conditions such as hyperprolactinemia is unknown. METHODS AND RESULTS: We performed a cross-sectional ... [more ▼]

AIMS: The cardiac valvular risk associated with lower exposure to cabergoline in common endocrine conditions such as hyperprolactinemia is unknown. METHODS AND RESULTS: We performed a cross-sectional, case-control echocardiographic study to assess the valvular status in 102 subjects receiving cabergoline for endocrine disorders and 51 matched control subjects. Cabergoline treatment ranged from 12 to 228 months, with a cumulative dose of 18-1718 mg. Valvular regurgitation was equally prevalent in both groups and was almost exclusively mild. Two cabergoline-treated subjects had moderate mitral regurgitation; there was no relationship between cabergoline dose and the presence or severity of mitral valve regurgitation (P=NS). Mitral valve tenting area was significantly greater in the cabergoline group when compared with the control subjects (P=0.03). Mitral valve leaflet thickening was observed in 5.9% of cabergoline-treated subjects; no relationship with the cumulative cabergoline dose was found. No patient had aortic or tricuspid valvular restriction. CONCLUSION: No significantly increased risk of clinically relevant cardiac valve disorders was found in subjects treated with long-term cabergoline therapy at the doses used in endocrine practice. While exposure to cabergoline appears to be safe during low-dose long-term therapy, an association with subclinical changes in mitral valve geometry cannot be completely excluded. [less ▲]

Biometrology of physical properties of skin in thyroid dysfunction.

in Journal of the European Academy of Dermatology & Venereology (2008), 22(10), 1173-1177

OBJECTIVE: There is ample clinical evidence that skin is responsive to physiopathological levels of circulating thyroid hormones. The aim of the study was to assess some physical changes of the skin in ... [more ▼]

OBJECTIVE: There is ample clinical evidence that skin is responsive to physiopathological levels of circulating thyroid hormones. The aim of the study was to assess some physical changes of the skin in the presence of moderate thyroid dysfunction. SETTING: University Hospital. PATIENTS AND METHODS: A total of 119 adults suffering from hypothyroidism or hyperthyroidism and 60 healthy controls were enrolled in this study. Hormonal dosages (TSH, fT3, fT4) were assessed in the serum. A series of biometrological assessments were also performed on the volar and dorsal aspects of the forearms. These included electrometric assessments (Nova Dermal Phase Meter, Corneometer), evaporimetry (Tewameter)), colorimetry (Mexameter), ultrasound shear wave propagation (Reviscometer) and squamometry X. Correlations were searched between each of the serum hormonal dosages and each of the biometrological parameters. RESULTS: The hormonal changes in the untreated patients with thyroid dysfunction were modest in intensity. A few outlier values with regard to the normal range were found for each biometrological parameter. No correlations were found between fT3 or fT4 and each of the physical parameters. By contrast, significant negative linear correlations were found between thyroid-stimulating hormone (TSH) and skin hydration measured by the Corneometer and the Nova DPM. CONCLUSION: This multipronged exploratory study shows that direct or indirect effects of TSH may influence the stratum corneum hydration. This correlation seemed very sensitive, as no other specific biophysical parameter was significantly correlated with the thyroid hormonal concentrations in the serum. However, our findings do not exclude the possibility of some other skin changes supervening in case of more severe thyroid dysfunction. The mechanism by which TSH alters the stratum corneum hydration is yet unknown. [less ▲]