The Journal of clinical endocrinology and metabolism
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J. Clin. Endocrinol. Metab. · Oct 2014
Case ReportsUsing denosumab to treat immobilization hypercalcemia in a post-acute care patient.
Hypercalcemia in adults has several less common causes. Management in patients with chronic kidney disease (CKD) is challenging because bisphosphonates are contraindicated. This case presents an uncommon cause of hypercalcemia in a subacute rehabilitation patient who was managed with denosumab. ⋯ Immobilization hypercalcemia is underappreciated in post-acute care older adults. In this patient with CKD, denosumab reversed her hypercalcemia; however, the case highlights potential risks and limitations with this therapy and emphasizes the need for further studies in medically complex older adults.
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J. Clin. Endocrinol. Metab. · Sep 2014
ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia.
Bilateral macronodular adrenal hyperplasia (BMAH) is a rare form of adrenal Cushing's syndrome. Familial cases have been reported, but at the time we conducted this study, the genetic basis of BMAH was unknown. Recently, germline variants of armadillo repeat containing 5 (ARMC5) in patients with isolated BMAH and somatic, second-hit mutations in tumor nodules, were identified. ⋯ Our studies have detected ARMC5 mutations in 4 of 5 BMAH families tested, confirming that these mutations are a frequent cause of BMAH. Two of the 4 families had novel mutations, indicating allelic heterogeneity. Preclinical evaluation did not predict mutation status. The ARMC5-negative family had unusual prominent hyperaldosteronism. Further studies are needed to determine the penetrance of BMAH in ARMC5 mutation-positive relatives of affected patients, the practical utility of genetic screening and genotype-phenotype correlations.
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J. Clin. Endocrinol. Metab. · Sep 2014
Elevated peritoneal expression and estrogen regulation of nociceptive ion channels in endometriosis.
Ovarian suppression is a common treatment for endometriosis-associated pelvic pain. Its exact mechanism of action is poorly understood, although it is assumed to reflect reduced production/action of estrogens. ⋯ Estrogen-dependent expression of TRPV1 in sensory neurons may explain why ovarian suppression can reduce endometriosis-associated pain. Strategies directly targeting ion channels may offer an alternative option for the management of CPP.
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J. Clin. Endocrinol. Metab. · Sep 2014
Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization.
Most cases of autosomal dominant hypoparathyroidism (ADH) are caused by gain-of-function mutations in CASR or dominant inhibitor mutations in GCM2 or PTH. ⋯ Our findings indicate that the germline gain-of-function mutation of GNA11 is a cause of ADH and implicate a novel role for GNA11 in skeletal growth.
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J. Clin. Endocrinol. Metab. · Aug 2014
Patients with apparently nonfunctioning adrenal incidentalomas may be at increased cardiovascular risk due to excessive cortisol secretion.
Although adrenal incidentalomas (AIs) are associated with a high prevalence of cardiovascular risk (CVR) factors, it is not clear whether patients with nonfunctioning AI (NFAI) have increased CVR. ⋯ Patients with CSAI without hypertension, diabetes, and/or dyslipidemia exhibit adverse metabolic and CVR factors. In addition, NFAIs are apparently associated with increased insulin resistance and endothelial dysfunction that correlate with subtle but not autonomous cortisol excess.