The Journal of clinical endocrinology and metabolism
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J. Clin. Endocrinol. Metab. · May 2015
Review Meta Analysis Comparative StudyComparative efficacy of radiofrequency and laser ablation for the treatment of benign thyroid nodules: systematic review including traditional pooling and bayesian network meta-analysis.
To compare the efficacy of radiofrequency ablation (RFA) and laser ablation (LA) for treatment of benign solid thyroid nodules, using a systematic review including traditional pooling and Bayesian network meta-analysis. ⋯ RFA appears to be superior to LA in reducing benign solid thyroid nodule volume, despite the smaller number of treatment sessions without major side effects.
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J. Clin. Endocrinol. Metab. · May 2015
Pregnancy outcomes in women with primary hyperparathyroidism.
Primary hyperparathyroidism (PHPT) during pregnancy may pose considerable risks to mother and fetus. This study examined pregnancy outcomes in women with gestational PHPT in relation to clinical and laboratory parameters. ⋯ Serum calcium levels are usually only mildly elevated during pregnancy in women with PHPT. A significant proportion of cases go undiagnosed. Mild hypercalcemia in gestational PHPT is generally not associated with an increased risk of obstetrical complications.
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J. Clin. Endocrinol. Metab. · May 2015
Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.
The current obesity epidemic is attributed to complex interactions between genetic and environmental factors. However, a limited number of cases, especially those with early-onset severe obesity, are linked to single gene defects. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD) is one of the syndromes that presents with abrupt-onset extreme weight gain with an unknown genetic basis. ⋯ This study identifies a de novo RAI1 mutation in a child with morbid obesity and a clinical diagnosis of ROHHAD syndrome. Although extreme early-onset obesity, autonomic disturbances, and hypoventilation are present in ROHHAD, several of the clinical findings are consistent with SMS. This case highlights the challenges in the diagnosis of ROHHAD syndrome and its potential overlap with SMS. We also propose RAI1 as a candidate gene for children with morbid obesity.
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J. Clin. Endocrinol. Metab. · May 2015
Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice.
Germline mutations in genes coding succinate dehydrogenase (SDH) subunits A, B, C, and D have been identified in familial paragangliomas (PGLs)/pheochromocytomas (PHEOs) and other tumors. We described a GH-secreting pituitary adenoma (PA) caused by SDHD mutation in a patient with familial PGLs. Additional patients with PAs and SDHx defects have since been reported. ⋯ The present study confirms the existence of a new association that we termed 3PAs. It is due mostly to germline SDHx defects, although sporadic cases of 3PAs without SDHx defects also exist. Using Sdhb(+/-) mice, we provide evidence that pituitary hyperplasia in SDHx-deficient cells may be the initial abnormality in the cascade of events leading to PA formation.
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J. Clin. Endocrinol. Metab. · May 2015
Randomized Controlled Trial Multicenter StudyPreconception low dose aspirin and time to pregnancy: findings from the effects of aspirin in gestation and reproduction randomized trial.
The objective was to determine the effect of preconception-initiated daily low-dose aspirin (LDA; 81 mg/day) treatment on time to pregnancy in women with a history of pregnancy loss. ⋯ Preconception-initiated LDA treatment resulted in a nonsignificant increase in fecundability of 14% in women with a history of 1-2 pregnancy losses, and a significant increase of 28% in women with a history of only one pregnancy loss of <20 weeks' gestation in the preceding year. Preconception-initiated LDA may increase fecundability in certain women with a recent early pregnancy loss.