The Journal of clinical endocrinology and metabolism
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J. Clin. Endocrinol. Metab. · Nov 2013
Case ReportsSuccessful treatment of tumor-induced osteomalacia due to an intracranial tumor by fractionated stereotactic radiotherapy.
Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome, characterized by tumor secretion of fibroblast growth factor-23 (FGF23) causing hypophosphatemia due to renal phosphate wasting. TIO is usually caused by small, benign, difficult-to-localize, mesenchymal tumors. Although surgery with wide excision of tumor borders is considered the "gold standard" for definitive therapy, it can be associated with considerable morbidity depending on the location. To date, radiation therapy has not been considered as an effective treatment modality in TIO. ⋯ Stereotactic radiotherapy was an effective treatment modality for TIO in our patient. Fractionated stereotactic radiation therapy represents an alternative to surgery for patients with TIO who are not surgical candidates or who decline surgery.
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It has become evident over the past 30 years that polycystic ovary syndrome (PCOS) is more than a reproductive disorder. It has metabolic sequelae that can affect women across the lifespan. Diagnostic criteria based on the endocrine features of the syndrome, hyperandrogenism and chronic anovulation, such as the National Institutes of Health (NIH) criteria, identify women at high metabolic risk. The additional phenotypes defined by the Rotterdam diagnostic criteria identify women with primarily reproductive rather than metabolic dysfunction. ⋯ There should be two names for the PCOS phenotypes: those with primarily reproductive consequences should continue to be called PCOS, and those with important metabolic consequences should have a new name.
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J. Clin. Endocrinol. Metab. · Oct 2013
Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase: results from the SEARCH for Diabetes in Youth.
Our study aims were to determine the frequency of MODY mutations (HNF1A, HNF4A, glucokinase) in a diverse population of youth with diabetes and to assess how well clinical features identify youth with maturity-onset diabetes of the young (MODY). ⋯ In this systematic study of MODY in a large pediatric US diabetes cohort, unselected by referral pattern or family history, MODY was usually misdiagnosed and incorrectly treated with insulin. Although many type 2 diabetes-like metabolic features were less common in the mutation-positive group, no single characteristic identified all patients with mutations. Clinicians should be alert to the possibility of MODY diagnosis, particularly in antibody-negative youth with diabetes.
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J. Clin. Endocrinol. Metab. · Sep 2013
Cortisol response to operative stress with anesthesia in healthy children.
Supraphysiological "stress dosing" is generally given to adrenally insufficient patients undergoing operative procedures and/or general anesthesia. However, the normal responses of cortisol to surgery are poorly documented, especially in small children. Recent studies in adults suggest that massive glucocorticoid dosing is not needed, especially in minimally invasive surgery. ⋯ Minimal and moderately invasive urological procedures do not result in a cortisol stress response in healthy children. Peak cortisol levels were seen 1 hour postoperatively. These data suggest that current guidelines for stress dosing in adrenally insufficient patients substantially exceed physiological requirements during minimally invasive procedures.
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J. Clin. Endocrinol. Metab. · Sep 2013
Association of circulating sclerostin with bone mineral mass, microstructure, and turnover biochemical markers in healthy elderly men and women.
Sclerostin inhibits bone formation and is involved in the bone response to mechanical loading, but the role and significance of circulating sclerostin are poorly understood. ⋯ Sclerostin levels are markedly different according to the immunoassay used. Detection of an association with calcitropic hormones or turnover markers relies on the epitope recognized by the immunoassay and adjustment for bone mass.