Endocrine
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Review Case Reports
Gitelman's syndrome: a pathophysiological and clinical update.
Gitelman's syndrome (GS), also known as familial hypokalemic hypomagnesemia, is a rare autosomal recessive hereditary salt-losing tubulopathy, characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria, which is usually caused by mutations in the SLC12A3 gene encoding the thiazide-sensitive sodium chloride contrasporter. Because 18-40% of suspected GS patients carry only one SLC12A3 mutant allele, large genomic rearrangements must account for unidentified mutations. The clinical manifestations of GS are highly variable in terms of age at presentation, severity of symptoms, and biochemical abnormalities. ⋯ Missense mutations account for approximately 70% of the mutations in GS, and there is a predisposition to large rearrangements caused by the presence of repeated sequences within the SLC12A3. We report two adult male siblings of Jewish origin with late onset GS, who presented in their fifth decade of life with muscle weakness, hypokalemia, hypomagnesaemia, and metabolic alkalosis. Rapid clinical and biochemical improvement was achieved by replacement therapy with potassium and magnesium.
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Letter Case Reports
Unusual presentations of Hashimoto's encephalopathy: trigeminal neuralgiaform headache, skew deviation, hypomania.
Hashimoto's encephalopathy (HE) is a term used to describe an encephalopathy of presumed autoimmune origin characterized by high titers of antithyroid-peroxidase antibodies. We describe three patients showing unusual clinical presentations like trigeminal-neuralgia, skew deviation, hypomania associated with HE. The purpose of this article is to describe the patients with unusual clinical pictures of HE, something that has not been reported in elsewhere in medical literature.
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There is ongoing controversy as to whether hormonal changes of the euthyroid sick syndrome are predictors of poor outcome in sepsis and critical illness. In this prospective study, the prognostic accuracy of thyroid hormone levels in 103 critically ill adult patients on admission and during follow up in a medical intensive care unit (ICU) was assessed and was compared to clinical risk scores, namely, the acute physiology and chronic health evaluation and the simplified acute physiology score. Median T3 levels on admission to the ICU were lower in the 53 septic cases [0.9 nmol/l (IQR 0.6-1.1)] as compared with the 50 patients with a systemic inflammatory response syndrome [1.2 nmol/l (IQR 0.8-1.4), P < 0.001]. ⋯ In addition, on the day of death, non-survivors had lower T3 and fT4 levels as compared with survivors (P = 0.04 and P = 0.02). T3 and fT4 levels on admission were not prognostic in this cohort of critically ill patients. A decrease in fT4 levels in the course of disease, however, may point to adverse outcome.
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Animals chronically exposed to stressors with access to diets high in fat and sugar consume and prefer these diets, a result consistent with the association between stress and comfort food ingestion in humans. As social subordination in rhesus monkeys provides an ethologically relevant translational model of psychosocial stress, we tested the hypothesis that differences in food intake between dominant and subordinate female monkeys are due to corticotropin-releasing hormone-(CRH) induced alteration in sensitivity to ghrelin, a potent orexigenic signal. ⋯ Astressin B decreased cortisol levels and increased preference for and intake of the HCD in subordinates and decreased calorie intake and HCD preference in dominant animals. These results suggest that increased caloric intake by subordinates may, in part, be explained by a greater sensitivity to postprandial increases in ghrelin and that CRH receptor antagonism leading to a decrease in cortisol has mixed effects on food choice depending on an individual's stress background.
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Adrenocorticotropin (ACTH) producing macroadenomas and pituitary apoplexy are unusual in Cushing' s disease. A 20-year-old man who had been diagnosed Cushing' s disease 2 months ago, presented with sudden headache, nausea, and vomiting. His serum cortisol level was 0.4 μg/dl and ACTH level was 23.9 pg/ml. ⋯ The hemorrhagic lesion was resected by transsphenoidal surgery successfully. Impaired secretion of pituitary hormones may be seen after the pituitary apoplexy. We communicate a case with pituitary apoplexy of an ACTH secreting pituitary macroadenoma, causing acute glucocorticoid insufficiency.