The Journal of clinical endocrinology and metabolism
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J. Clin. Endocrinol. Metab. · Mar 2019
Case ReportsBlood mRNA Measurement (NETest) for Neuroendocrine Tumor Diagnosis of Image-Negative Liver Metastatic Disease.
Early cancer detection is critical to optimize treatment. This is particularly problematic in neuroendocrine tumors (NETs), which exhibit an ∼5-year diagnostic delay due to covert symptoms, limitations in imaging, and circulating biomarkers. Despite development of continuous monitoring strategies utilizing advanced modalities [CT/MRI or 68Gallium positron emission tomography (PET)/CT] or a repertoire of monoanalyte biomarkers [e.g., chromogranin A (CgA), pancreastatin, serotonin], detection of minimal residual disease or microrecurrence remains elusive. Emerging molecular liquid biopsies (e.g., NETest) provide a substantially improved threshold for disease detection. ⋯ Blood measurement of NET transcripts can identify image- and CgA-negative disease. A NET liquid biopsy strategy has clinical utility in the early identification of residual or metastatic disease and optimizes consideration of adjuvant therapeutic intervention.
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J. Clin. Endocrinol. Metab. · Feb 2019
Adrenal Vein Sampling Lateralization Despite Mineralocorticoid Receptor Antagonists Exposure in Primary Aldosteronism.
Many antihypertensive medications modulate the renin-angiotensin-aldosterone system, possibly skewing the diagnosis and subtyping of primary aldosteronism (PA). Particularly, mineralocorticoid receptor antagonists (MRA) might raise renin and stimulate aldosterone synthesis from nonautonomous areas, potentially obscuring lateralization on adrenal vein sampling (AVS). Withdrawal of MRA in severe PA, however, can precipitate hypokalemia and/or hypertension and therefore is not always practical. ⋯ Our data suggest that conclusive AVS lateralization is often achieved in patients with severe PA despite MRA use.
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J. Clin. Endocrinol. Metab. · Dec 2018
Case ReportsComplete Kisspeptin Receptor Inactivation Does Not Impede Exogenous GnRH-Induced LH Surge in Humans.
Mutations in the kisspeptin receptor (KISS1R) gene have been reported in a few patients with normosmic congenital hypogonadotropic hypogonadism (nCHH) (OMIM #146110). ⋯ GnRH pulsatile therapy can induce an LH surge in a woman with a mutated KISS1R, which was previously thought to be completely inactivated in vivo.
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Primary hyperparathyroidism (PHPT), the most common cause of hypercalcemia, is most often identified in postmenopausal women. The clinical presentation of PHPT has evolved over the past 40 years to include three distinct clinical phenotypes, each of which has been studied in detail and has led to evolving concepts about target organ involvement, natural history, and management. ⋯ Advances in our knowledge of PHPT have guided new concepts in diagnosis and management.