Journal of Clinical Endocrinology and Metabolism

CONTEXT: Surgical intervention is advised in patients with multiple endocrine neoplasia type-1 (MEN-1) with non-functioning pancreatic neuroendocrine tumors (PanNET) and a size ≥20mm. Functioning PanNET such as patients with endogenous hyperinsulinemic hypoglycemia (EHH) due to (one or multiple) insulinoma(s) should be treated surgically independent of size. Preoperative localization of insulinomas is critical for surgery. OBJECTIVE: To evaluate feasibility and sensitivity of 68Ga-DOTA-exendin-4 PET/CT in the detection of clinical-relevant lesions in MEN-1 patients with EHH in combination with MRI...

CONTEXT: Oxidative stress and insulin resistance are often present in Polycystic Ovary Syndrome (PCOS). OBJECTIVE: We determined the effect of saturated fat ingestion on leukocytic reactive oxygen species (ROS) generation and p47phox expression, and circulating thiobarituric substances (TBARS) in women with PCOS. DESIGN: Cross-sectional study. SETTING: Academic medical center. PATIENTS: Twenty reproductive-age women with PCOS (10 lean, 10 obese) and 19 ovulatory controls (10 lean, 9 obese)...

No abstract text is available yet for this article.

No abstract text is available yet for this article.

CONTEXT: Plasma acylcarnitines are biomarkers of beta-oxidation and are useful in diagnosing several inborn errors of metabolism but has never been systematically investigated in patients with mitochondrial myopathy. OBJECTIVE: We hypothesized that acylcarnitines can also be biomarkers of mitochondrial myopathy and sought to investigate the prevalence and pattern of elevated acylcarnitines. DESIGN: The study was a prospective cohort study of patients with confirmed mitochondrial myopathy followed at Copenhagen Neuromuscular Center, Rigshospitalet, Copenhagen, Denmark...

No abstract text is available yet for this article.

CONTEXT: Low serum adiponectin and HDL-C levels are risk factors for cardiovascular disease. Patients with primary adrenal insufficiency are at higher risk of cardiovascular complications compared with healthy subjects. However, there is no information on the relationship between adiponectin and glucocorticoid replacement therapy in patients with secondary adrenal insufficiency (SAI). OBJECTIVE: To determine the effects of intrinsic adrenal function and glucocorticoid replacement therapy on serum adiponectin levels and lipid profile in patients with SAI...

CONTEXT: Subclinical and clinical complications emerge early in type 1 diabetes and may be associated with obesity and hyperglycemia. OBJECTIVE: Test how longitudinal 'weight-glycemia' phenotypes increase susceptibility to different patterns of early/subclinical complications among youth with type 1 diabetes. DESIGN: SEARCH for Diabetes in Youth observational study. SETTING: Population-based cohort. PARTICIPANTS: Youth with type 1 diabetes (n=570) diagnosed 2002-2006 or 2008...

No abstract text is available yet for this article.

No abstract text is available yet for this article.

CONTEXT: The interleukin-13 receptor alpha2 (IL13RA2), which is known to be overexpressed in glioblastoma multiforme, plays a role in various cellular processes such as cell migration that may contribute to tumor progression. Studies have attributed IL13RA2 to invasion and metastasis in cancers of the ovary, breast, and pancreas but the pathological role of IL13RA2 in thyroid cancer is still unclear. OBJECTIVE: This study aims to evaluate IL13RA2 expression in thyroid carcinomas and to examine the role of IL13RA2 in the progression of papillary thyroid cancer (PTC)...

No abstract text is available yet for this article.

CONTEXT: Familial hyperaldosteronism type I or glucocorticoid-remediable aldosteronism (FH-I; GRA) is caused by unequal crossing-over of the steroid 11β-hydroxylase (CYP11B1) and aldosterone synthase (CYP11B2) genes. Somatic KCNJ5 mutations have not been reported in patients with GRA; therefore, the appropriate treatment and prognosis of such concurrent cases remain unknown. CASE DESCRIPTION: Two siblings of a Taiwanese family with GRA were found to have adrenal adenomas and somatic KCNJ5 mutations...

CONTEXT: Childhood cancer survivors experience chronic health conditions that impact health related quality of life (HRQOL) and participation in optimal physical activity. OBJECTIVE: The study aimed to determine independent effects of endocrine and metabolic disorders on HRQOL and physical activity. DESIGN, SETTING, AND PATIENTS: Retrospective cohort with longitudinal follow-up of survivors of childhood cancer enrolled in the North American Childhood Cancer Survivor Study...

CONTEXT: Prospective studies on caffeine and different types of coffee intake in relation to the risk of ovarian cancer have shown conflicting results. OBJECTIVE: The aim of this study was to perform a dose-response meta-analysis of cohort studies on the association between dietary caffeine intake, different types of coffee consumption and risk of ovarian cancer. DATA SOURCES: PubMed/Medline, ISI Web of Science, Scopus and EMBASE were searched to identify relevant articles published until October 2018...

CONTEXT: 46,XY gonadal dysgenesis (GD) is a heterogeneous group of disorders with a wide phenotypic spectrum, including embryonic testicular regression syndrome (ETRS). OBJECTIVE: To report a novel gene for 46,XY GD etiology, especially for ETRS. DESIGN: Screening of familial cases of 46,XY GD using WES and sporadic cases by target gene panel sequencing. SETTING: Tertiary referral center for Differences/Disorders of sex Development (DSD)...

BACKGROUND: Vitamin D (25OHD) plays a role in many physiological functions which decline with age, contributing to frailty and increased risk for negative health outcomes. However, whether 25OHD can be a long-term risk marker for frailty over a longer time-period and whether it is consistent with advancing age is unclear. OBJECTIVE: To investigate the association between 25OHD and frailty in women aged 75, followed for 10 years. DESIGN AND SETTING: Prospective, population-based, cohort study from Malmö, Sweden...

CONTEXT: Members of the Transforming-Growth-Factor-β (TGF-β) family have been implicated in aberrant follicle development in women with polycystic ovaries (PCO). OBJECTIVE: Are there quantitative differences in the concentrations of TGF-β family members in fluid from small antral follicles (hSAF) from women with or without PCO? DESIGN SETTING: & Follicle fluids (FF) were collected from 4-11 mm hSAF obtained from women undergoing ovarian tissue cryopreservation for fertility preservation...

CONTEXT: Risk scores for cardiovascular and mortality outcomes have not been commonly applied in Chinese populations. OBJECTIVE: To develop and externally validate a set of parsimonious risk scores (HKU-SG) to predict the risk of mortality, cerebrovascular disease and ischemic heart disease among Chinese people with type 2 diabetes; and compare HKU-SG risk scores to other existing ones. DESIGN: Retrospective population-based cohorts drawn from Hong Kong Hospital Authority health records from 2006 to 2014 for development and Singapore Ministry of Health records from 2008 to 2016 for validation...

CONTEXT: Newborn screening program for congenital hypothyroidism (CH) adopting re-screening in at-risk neonates. OBJECTIVES: To estimate the concordance rate for CH in twin pairs discordant at the first screening; to verify whether long-term follow-up of healthy cotwins belonging to CH discordant pairs may be useful to diagnose thyroid hypofunction during development; to evaluate the importance of genetic and environmental influences on liability to permanent and transient CH...