The Journal of clinical endocrinology and metabolism
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J. Clin. Endocrinol. Metab. · Jul 2014
The impact of obesity on the presentation of primary hyperparathyroidism.
Obesity has been associated with elevated serum PTH (sPTH) in the general population. Obesity may also alter the clinical presentation in patients with primary hyperparathyroidism (PHPT). ⋯ In PHPT patients, obesity is a risk factor for hypercalciuria and nephrolithiasis and is protective against osteoporosis. The impact of parathyroidectomy on the clinical features of obese PHPT patients merits further evaluation.
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J. Clin. Endocrinol. Metab. · Jul 2014
Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).
Autosomal dominant hypocalcemia (ADH) types 1 and 2 are due to calcium-sensing receptor (CASR) and G-protein subunit-α11 (GNA11) gain-of-function mutations, respectively, whereas CASR and GNA11 loss-of-function mutations result in familial hypocalciuric hypercalcemia (FHH) types 1 and 2, respectively. Loss-of-function mutations of adaptor protein-2 sigma subunit (AP2σ 2), encoded by AP2S1, cause FHH3, and we therefore sought for gain-of-function AP2S1 mutations that may cause an additional form of ADH, which we designated ADH3. ⋯ The absence of AP2S1 abnormalities in hypocalcemic patients, suggests that ADH3 may not occur or otherwise represents a rare hypocalcemic disorder.
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J. Clin. Endocrinol. Metab. · Jul 2014
Subclinical and overt thyroid dysfunction and risk of all-cause mortality and cardiovascular events: a large population study.
Thyroid dysfunction has been associated with both increased all-cause and cardiovascular mortality, but limited data are available on mild thyroid dysfunction and cause-specific mortality. ⋯ Heart failure is the leading cause of an increased cardiovascular mortality in both overt and subclinical hyperthyroidism. Subclinical hypothyroidism with TSH 5-10 mIU/L might be associated with a lower risk of all-cause mortality.
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J. Clin. Endocrinol. Metab. · Jun 2014
Growth hormone exposure as a risk factor for the development of subsequent neoplasms of the central nervous system: a report from the childhood cancer survivor study.
Cranial radiation therapy (CRT) predisposes to GH deficiency and subsequent neoplasms (SNs) of the central nervous system (CNS). Increased rates of SNs have been reported in GH-treated survivors. ⋯ There was no statistically significant increased overall risk of the occurrence of a CNS-SN associated with GH exposure. Specifically, occurrence of meningiomas and gliomas were not associated with GH treatment.