Volume 102, Issue 6, 1 June 2017
Case Reports
Type B Insulin Resistance Masquerading as Ovarian Hyperthecosis
We studied a patient whose case demonstrated that gonadotropins are required as cofactors for insulin-induced hyperandrogenism in type B insulin resistance.
Genetic and Histopathologic Intertumor Heterogeneity in Primary Aldosteronism
This study of a patient with multiple aldosterone-producing adenomas revealed complex intertumor heterogeneity in genetics, histology, and steroidogenesis, suggesting a multiclonal process.
Clinical Research Articles
Modified-Release and Conventional Glucocorticoids and Diurnal Androgen Excretion in Congenital Adrenal Hyperplasia
We studied diurnal urinary steroid excretion in glucocorticoid-treated patients with congenital adrenal hyperplasia and found increased alternative pathway androgen synthesis that was ameliorated by modified-release hydrocortisone.
Insulin Resistance Is Associated With Smaller Cortical Bone Size in Nondiabetic Men at the Age of Peak Bone Mass
We investigated the association between insulin resistance and bone geometry in nondiabetic young men and observed that higher levels of insulin resistance were associated with smaller bone size.
CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism
The aim of this study was to further describe CCDC141 mutations in IHH/KS. Our studies revealed nine affected individuals from four independent families who have KS but not IHH.
Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012
We evaluated the diabetes etiology in 3781 pediatric patients and found that genetic mutations are the second cause of hyperglycemia after type 1 diabetes and that type 2 diabetes is relatively rare.
Renin Phenotypes Characterize Vascular Disease, Autonomous Aldosteronism, and Mineralocorticoid Receptor Activity
In individuals without primary aldosteronism, the inability to stimulate renin is associated with unrecognized autonomous aldosterone secretion and excessive mineralocorticoid receptor activation.
Progressive Development of PTH Resistance in Patients With Inactivating Mutations on the Maternal Allele of GNAS
This study demonstrates the progressive development of PTH resistance in 20 patients affected by iPPSD2 (PHP1A), diagnosed due to family history and/or AHO signs and carrying a maternal GNAS mutation.
Steroids Regulate CXCL4 in the Human Endometrium During Menstruation to Enable Efficient Endometrial Repair
We studied CXCL4 in endometrial tissue and cells and found that expression was maximal at menses, regulated by cortisol in endothelial cells, and reduced in HMB, consistent with a role in endometrial repair.
Psychological Distress Is More Prevalent in Fertile Age and Premenopausal Women With PCOS Symptoms: 15-Year Follow-Up
We studied psychological distress in women with PCOS symptoms and found high anxiety and depression rates in women with PCOS or isolated hirsutism lasting until perimenopausal age.
Early Prenatal Phthalate Exposure, Sex Steroid Hormones, and Birth Outcomes
We found significant relationships between prenatal phthalate exposure and sex steroid hormone concentrations. Free testosterone was associated with 25% lower prevalence of male genital abnormalities.
Plasma Arginine/Asymmetric Dimethylarginine Ratio and Incidence of Cardiovascular Events: A Case-Cohort Study
We examined the associations between urea cycle metabolites and cardiovascular disease (CVD). We found that the baseline arginine/asymmetric dimethylarginine ratio was associated with lower risk of CVD.
Outcome of Nonfunctioning Pituitary Adenomas That Regrow After Primary Treatment: A Study From Two Large UK Centers
In this retrospective cohort study, nonfunctioning pituitary adenomas that regrew after primary treatment carried considerable risk of further progression. Management approach was the major risk factor.
TERT, BRAF, and NRAS in Primary Thyroid Cancer and Metastatic Disease
We evaluated the frequency of TERT, BRAF, and NRAS mutations in thyroid tumors, lymph node, and distant metastases. Distant metastases show an enrichment in TERTp and a decrease in BRAF mutations.
Gene-Hormone Therapy Interaction and Fracture Risk in Postmenopausal Women
We evaluated gene-menopausal hormone therapy (HT) interaction on fracture. We found that HT reduces fracture risk especially in postmenopausal women at highest genetic risk of fracture and low BMD.
Active Surveillance for Patients With Papillary Thyroid Microcarcinoma: A Single Center’s Experience in Korea
Three-dimensional structures of PTMCs were evaluated using serial neck US in patients under active surveillance. Some PTMCs can grow significantly after a short period of active surveillance.
Utility of FDG-PET Imaging for Risk Stratification of Pancreatic Neuroendocrine Tumors in MEN1
We studied the utility of 18F-FDG PET for screening patients with MEN1 for aggressive and malignant pancreatic neuroendocrine tumors and found it an effective modality.
Metabolically Healthy Obesity and Ischemic Heart Disease: A 10-Year Follow-Up of the Inter99 Study
We studied the risk of ischemic heart disease (IHD) in the Inter99 cohort and found that metabolically healthy obese men had increased risk of IHD compared with metabolically healthy normal-weight men.
Expression of PD-1 and PD-L1 in Anaplastic Thyroid Cancer Patients Treated With Multimodal Therapy: Results From a Retrospective Study
The study demonstrates the potential associations of PD-1/PD-L1 axis variables with outcome data in a uniformly treated anaplastic thyroid cancer cohort treated with multimodal therapy.
Assessing Energy Requirements in Women With Polycystic Ovary Syndrome: A Comparison Against Doubly Labeled Water
Herein we report on total daily energy expenditure via doubly labeled water in women with PCOS and show that common prediction equations can be used to estimate energy requirements.
Thyroid Signaling, Insulin Resistance, and 2 Diabetes Mellitus: A Mendelian Randomization Study
Using summary statistics data from the MAGIC and DIAGRAM consortia, we did not find evidence supporting a causal association between TSH and fT4 serum concentration and increased insulin resistance.
Coordinated Regulation Among Progesterone, Prostaglandins, and EGF-Like Factors in Human Ovulatory Follicles
The LH surge increases prostaglandins and EGF-like factors by coordinated regulation by progesterone/PGR and EGF signaling in human periovulatory follicles.
Effects of Mixed Carotenoids on Adipokines and Abdominal Adiposity in Children: A Pilot Study
Supplementation of mixed carotenoids with lifestyle intervention in children with obesity leads to increased β-carotene and adiponectin and lowers abdominal adiposity in the active vs placebo group.
Breaking Up Prolonged Sitting Alters the Postprandial Plasma Lipidomic Profile of Adults With Type 2 Diabetes
We investigated the effects of breaks in sitting on the postprandial plasma lipidome in adults with T2D. Compared with prolonged sitting, breaks reduced inflammatory and augmented antioxidant lipids.
Early Pregnancy-Associated Plasma Protein A Concentrations Are Associated With Third Trimester Insulin Sensitivity
Pregnancy-associated plasma protein A concentrations, measured at the start of the second trimester, were associated with subsequent insulin sensitivity, blood pressure, and gestational diabetes.
In Vitro Head-to-Head Comparison Between Octreotide and Pasireotide in GH-Secreting Pituitary Adenomas
We compared the in vitro efficacy of octreotide and pasireotide in somatotropinomas. We found that lower sst2 mRNA expression and lower sst2/sst5 ratio correlate with a better response to pasireotide.
Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect
We describe the clinical and bone material phenotype in type XIV OI. Bone histology, matrix composition, and the osteoblast differentiation pattern is distinct from OI due to collagen defects.
Obesity Modulates Inflammation and Lipid Metabolism Oocyte Gene Expression: A Single-Cell Transcriptome Perspective
We studied oocyte mRNA profiles as well as serum and follicular fluid hormone and lipid levels in obese women compared with those in normal-weight women and found significant differences.
Effect of Moxonidine on the Aldosterone/Renin Ratio in Healthy Male Volunteers
In a group of 20 males, moxonidine had no effect on the plasma aldosterone/renin ratio and may therefore be a good option for maintaining hypertension when screening for primary aldosteronism.
Persistent Reduction of Circulating Myeloid Calcifying Cells in Acromegaly: Relevance to the Bone–Vascular Axis
We found that acromegalic patients had low levels of circulating procalcific cells even after cure. This defect might be linked to bone remodeling and protection from atherosclerotic calcification.
Association of TSH With Cardiovascular Disease Risk in Overweight and Obese Children During Lifestyle Intervention
TSH is associated with cardiovascular risk parameters. During lifestyle intervention, changes in TSH are associated with changes in lipid concentrations in children with successful weight loss.
Muscle Sympathetic Nerve Activity Is Associated With Elements of the Plasma Lipidomic Profile in Young Asian Adults
There is a strong association between MSNA and a number of lipid species in young Asian subjects that may put them at a higher cardio-metabolic risk at lower BMI compared with white subjects.
Risk Profile of the RET A883F Germline Mutation: An International Collaborative Study
Thirteen RET A883F carriers were studied retrospectively, and medullary thyroid carcinomas of these carriers were found to have a more indolent natural course compared with those of M918T carriers.
Biliary Anomalies in Patients With HNF1B Diabetes
Imaging with MRI and/or MRCP revealed structural anomalies of the bile ducts in seven of 14 patients with HNF1B mutations. Six had choledochal cysts, which increase the risk for cholangiocarcinoma.
MEN1-Dependent Breast Cancer: Indication for Early Screening? Results From the Dutch MEN1 Study Group
MEN1 is associated with an early-onset elevated breast cancer risk and is not related to other breast cancer risk factors. Early breast cancer surveillance is justified for all women with MEN1.
Continuous Kisspeptin Administration in Postmenopausal Women: Impact of Estradiol on Luteinizing Hormone Secretion
Postmenopausal women underwent a kisspeptin infusion for 24 hours with and without estradiol addback. Kisspeptin increased luteinizing hormone only after 12 hours in women receiving estradiol.
Vitamin D Reduces Oxidative Stress–Induced Procaspase-3/ROCK1 Activation and MP Release by Placental Trophoblasts
Inhibition of caspase-3 cleavage and ROCK1 activation could be the potential protective mechanism(s) of 1,25(OH)2D3 to suppress microparticle shedding by placental trophoblasts.