Volume 102, Issue 11, 1 November 2017
Print and Online
Clinical Practice Guideline
Endocrine Treatment of Gender-Dysphoric/Gender-Incongruent Persons: An Endocrine Society Clinical Practice Guideline
Gender affirmation is multidisciplinary treatment. Gender-dysphoric/gender-incongruent persons seek and/or are referred to endocrinologists to develop the physical characteristics of the affirmed gender.
Clinical Practice Guideline Meta-Analysis
Effect of Sex Steroids on the Bone Health of Transgender Individuals: A Systematic Review and Meta-Analysis
In FTM individuals, masculinizing hormone therapy was not associated with changes in BMD, whereas in MTF individuals feminizing hormone therapy was associated with changes at the lumbar spine.
Sex Steroids and Cardiovascular Outcomes in Transgender Individuals: A Systematic Review and Meta-Analysis
Sex steroid therapy may increase LDL-C and TG levels and decrease HDL-C levels in FTM, whereas oral estrogens may increase TG levels in MTF. Data about important patient outcomes remain sparse.
Case Reports
Fatal Carney Complex in Siblings Due to De Novo Large Gene Deletion
We studied Carney complex in siblings due to parental germ cell mosaicism of large PRKAR1A deletion, causing lethal metastatic melanotic schwannian tumor in the proband.
Corticotroph Pituitary Carcinoma in a Patient With Lynch Syndrome (LS) and Pituitary Tumors in a Nationwide LS Cohort
To our knowledge, this is the first case of a pituitary carcinoma caused by a mutation in a DNA mismatch repair gene (Lynch syndrome). Among 910 patients with LS, 3 had pituitary tumors, a higher number than expected.
Perspectives in Endocrinology
Calcimimetic Use in Familial Hypocalciuric Hypercalcemia—A Perspective in Endocrinology
Treatment with a calcimimetic was successful in 14 of 16 reported cases of FHH. Calcimimetics can be used in more cases of FHH.
Clinical Research Articles
Effect of an Acute Bout of Endurance Exercise on Serum 25(OH)D Concentrations in Young Adults
Serum 25(OH)D concentrations significantly increased after endurance exercise, and the elevation was greater in men than in women, which can be attributed to the different percent body fat levels.
Increased Triacylglycerol Lipase Activity in Adipose Tissue of Lean and Obese Men During Endurance Exercise
We found different patterns of lipolysis during exercise between lean and obese men. Changes in lipolytic rate seem to be due to altered protein amount or activity, not mRNA levels.
Antecedent Hypoglycemia Does Not Attenuate the Acceleration of Gastric Emptying by Hypoglycemia
We studied antecedent hypoglycemia effects on gastric and cardiac responses to subsequent hypoglycemia, finding gastric emptying unaffected but that cardiac contractility may be attenuated.
Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism
We report on a heterozygous PTH mutation in an FIH family and demonstrate accumulation of the mutant intracellularly and its impaired secretion.
Dysregulation of the Anti-Müllerian Hormone System by Steroids in Women With Polycystic Ovary Syndrome
We have studied AMH and AMHR2 regulation by steroids and found that both genes are dysregulated by 5a-DHT and E2 in a way that promotes their overexpression in GCs from PCOS women.
Duodenal Sodium/Glucose Cotransporter 1 Expression Under Fasting Conditions Is Associated With Postload Hyperglycemia
We studied the duodenal expression of the glucose transporter SGLT-1 in individuals with dysglycemia and we found that duodenal SGLT-1 abundance is increased in subjects with post-load hyperglycemia.
N-Glycomic Profiling of Pheochromocytomas and Paragangliomas Separates Metastatic and Nonmetastatic Disease
MALDI-TOF MS profiling of primary metastasized and nonmetastasized pheochromocytomas and paragangliomas identified differences between their N-glycan profiles.
MicroRNA-221-3p Regulates Angiopoietin-Like 8 (ANGPTL8) Expression in Adipocytes
ANGPTL8 mRNA in human AT correlates with insulin-sensitive genes and is reduced by inflammation. ANGPTL8 is targeted by miR-221 and correlates negatively with it in the SAT of morbidly obese subjects.
Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review
We studied clinical and molecular features of renal tumor and pheochromocytoma tumor association syndrome by literature review and characterization of a large novel case series.
Acute and Chronic Impact of Bariatric Surgery on Plasma LDL Cholesterol and PCSK9 Levels in Patients With Severe Obesity
Study results suggest that bariatric surgery decreased plasma PCSK9 and LDL-C levels in patients with severe obesity. Caloric restriction also decreased PCSK9 levels.
Effects of Prednisolone on Serum and Tissue Fluid IGF-I Receptor Activation and Post-Receptor Signaling in Humans
Five days of prednisolone treatment (37.5 mg/d) increased the ability of serum but not tissue fluid to activate the IGF-I receptor (IGF-IR). In cells, prednisolone decreased post–IGF-IR signaling.
Change in Weight and Body Mass Index Associated With All-Cause Mortality in Korea: A Nationwide Longitudinal Study
Weight change over 4 years showed a reverse J-shaped all-cause mortality curve independent of BMI status. Weight loss was associated with a greater risk of mortality than was weight gain.
The Role of Episodic Postprandial Peptides in Exercise-Induced Compensatory Eating
We examined peptide responses during 12 weeks of exercise after high- and low-fat meals. Weight losers showed greater suppression of acylated ghrelin and greater release of GLP-1 and PYY at baseline.
DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland
Exome analysis unexpectedly revealed DUOX2 mutations in patients with ectopic thyroid, suggesting that DUOX2 could also be involved in thyroid ontogenesis.
Fetal and Maternal Genetic Variants Influencing Neonatal Vitamin D Status
Genetic variants known to influence vitamin D were determined in mother and child dyads at birth. Fetal genetic variants were more important for cord blood vitamin D than those from the mother.
Growth Hormone Improves Cardiopulmonary Capacity and Body Composition in Children With Growth Hormone Deficiency
Cardiac structure, body composition, and cardiopulmonary functional capacity are impaired in children with untreated GHD and can be restored by GH therapy.
Prognostic Classifier Based on Genome-Wide DNA Methylation Profiling in Well-Differentiated Thyroid Tumors
An epigenetic signature of thyroid lesions is described based on the DNA methylation analysis. An algorithm was developed to predict recurrence, which has potential to be used in the clinical practice.
Adrenarche in Silver-Russell Syndrome: Timing and Consequences
This longitudinal study demonstrates that early adrenarche does not compromise the response to rhGH treatment in short children with SRS.
Serum Surfactant Protein D as a Biomarker for Measuring Lung Involvement in Obese Patients With Type 2 Diabetes
Case-control study to test serum surfactant proteins as biomarkers for lung damage in type 2 diabetes. Serum SP-D concentrations had an inverse association with forced expiratory volume in 1 second.
Adiponectin Predicts High-Density Lipoprotein Cholesterol Efflux Capacity in Adults Irrespective of Body Mass Index and Fat Distribution
Hypoadiponectemia is a predictor of reduced HDL CEC in adults. Adiponectin production may be a crucial modulator of HDL function with implications for cardiovascular risk.
The Association of Estrogen Receptor-β Gene Variation With Salt-Sensitive Blood Pressure
In two cohorts, the ER-β gene risk allele associated with SSBP but only in the presence of estrogen, potentially secondary to inappropriate aldosterone levels on liberal salt intake.
GLP-1 Receptor Activation Inhibits Palmitate-Induced Apoptosis via Ceramide in Human Cardiac Progenitor Cells
The study describes the role of ceramide in the proapoptotic effects of saturated fatty acids on human cardiac progenitors and the ability of GLP-1 receptor agonists to counteract these effects.
Sex Difference in the Clinical Presentation of Primary Hyperparathyroidism: Influence of Menopausal Status
We evaluated sex difference in a large, unselected PHPT series. Biochemical activity was independent of sex, whereas clinical presentation appeared different, mostly due to menopausal state.
Single-Dose Metformin Enhances Bile Acid–Induced Glucagon-Like Peptide-1 Secretion in Patients With Type 2 Diabetes
This study demonstrates that single-dose metformin enhances bile acid–induced induction of plasma GLP-1 excursions after cholecystokinin-mediated gallbladder emptying in patients with type 2 diabetes.
Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children With Hajdu-Cheney Syndrome
High resorption, heterogenous mineralization, woven bone, and low cortical thickness characterise HJCYS bone. Reduced bone density and cortical thickness increased during bisphosphonate therapy.
CT-Derived Body Fat Distribution and Incident Cardiovascular Disease: The Multi-Ethnic Study of Atherosclerosis
Using survival analysis, we found that visceral fat, but not subcutaneous fat, was associated with incident cardiovascular disease; these estimates were similar across age, sex, and race/ethnicity.
Maternal Thyroid Antibodies Associates With Cardiometabolic Risk Factors in Children at the Age of 16
Metabolic syndrome, greater waist circumference, and higher BMI are more prevalent in children of TPO-Ab–positive mothers, indicating an adverse cardiovascular health profile.
Reduced Frequency of Biological and Increased Frequency of Adopted Children in Males With 21-Hydroxylase Deficiency: A Swedish Population-Based National Cohort Study
21OHD was associated with reduced frequency of biological children and increased frequency of adopted children, indicating impaired fertility, but some subgroups had normal fertility.
Low Vitamin B12 in Pregnancy Is Associated With Adipose-Derived Circulating miRs Targeting PPARγ and Insulin Resistance
Our study showed that low B12 levels in pregnancy alter adipose-derived circulating miRs, which may mediate an adipogenic and insulin-resistant phenotype leading to obesity.
Evidence for Bone and Mineral Metabolism Alterations in Children With Autosomal Dominant Polycystic Kidney Disease
We studied mineral and bone metabolism in ADPKD children and found hypophosphatemia, inappropriately normal FGF23 levels, and decreased bone alkaline phosphatase, suggesting suppressed bone formation.
Body Composition and Ectopic Lipid Changes With Biochemical Control of Acromegaly
Acromegaly is characterized by insulin resistance but lower hepatic lipids compared with healthy controls. Biochemical control of acromegaly improves IR but leads to less favorable body composition.
Cold-Induced Brown Adipose Tissue Activity Alters Plasma Fatty Acids and Improves Glucose Metabolism in Men
Healthy men were exposed to mild cold, activating BAT metabolism. This activation improved insulin sensitivity without affecting insulin secretion and modified plasma FA profiles.
Rationalizing Thyroid Function Testing: Which TSH Cutoffs Are Optimal for Testing Free T4?
A “TSH first” strategy is common in thyroid function testing. We found that using wider TSH cutoffs (outside reference range limits) to trigger free T4 testing is more efficient and cost-effective.
Total Hip Bone Area Affects Fracture Prediction With FRAX® in Canadian White Women
In a large cohort of Canadian white women, skeletal size affects fracture prediction based on FRAX® with BMD, with fracture risk underestimated in those with larger hip area.
HDL Cholesterol Efflux Capacity in Newly Diagnosed HIV and Effects of Antiretroviral Therapy
HCEC was measured in HIV-infected subjects before and after 6 months of ART. HCEC improved with ART but not to the level of controls. Changes in HCEC related to changes in monocyte subpopulations.
Letters to the Editor
Letter to the Editor: “The Effect of Whole Body Vibration Training on Bone and Muscle Function in Children With Osteogenesis Imperfecta”
Response to Letter to the Editor: “The Effect of Whole Body Vibration Training on Bone and Muscle Function in Children With Osteogenesis Imperfecta”
Print Abstracts—Full Content Online Only
Clinical Research Articles
Visceral Fat and Novel Biomarkers of Cardiovascular Disease in Patients With Addison’s Disease: A Case-Control Study
In this study, patients with Addison’s disease had increased prevalence of the metabolic syndrome compared with matched control subjects, and several cardiovascular biomarkers were adversely affected.
Regulation of Orbital Fibrosis and Adipogenesis by Pathogenic Th17 Cells in Graves Orbitopathy
We studied the status of Th17 cells and found increased pathogenic Th17 cell in GO patients. Th17 cells promote fibrosis in CD90+ OFs and OFs produce PGE2 to promote Th17 cell differentiation.
Stereotactic Radiosurgery for Cushing Disease: Results of an International, Multicenter Study
We studied the outcomes of stereotactic radiosurgery for Cushing disease in 278 patients and found that this treatment can result in durable endocrine remission in appropriately selected patients.
Vitamin D and Testosterone in Healthy Men: A Randomized Controlled Trial
In this 12-week RCT, we studied the effect of vitamin D on TT levels in 100 eugonadal men with 25(OH)D <;75 nmol/L. We found no effect of vitamin D treatment on TT but a significant decrease in the QUICKI.
The Role of Sequential BMP Signaling in Directing Human Embryonic Stem Cells to Bipotential Gonadal Cells
A protocol for differentiation of hESCs into bipotential gonadallike cells was established by modulating the activity of the BMP signaling pathway.
Maternal Blood Pressure Rise During Pregnancy and Offspring Obesity Risk at 4 to 7 Years Old: The Jiaxing Birth Cohort
This study of found that rise in pregnancy blood pressure was associated with a higher risk for obesity in offspring.
Gemcitabine-Based Chemotherapy in Adrenocortical Carcinoma: A Multicenter Study of Efficacy and Predictive Factors
We retrospectively evaluated the efficacy of GEM-based chemotherapy in 145 patients with ACC and elucidated the potential predictive role of hENT1 and RRM1 expression.
Double-Blind, Placebo-Controlled, Randomized Trial of Selenium in Graves Hyperthyroidism
This double-blind, placebo-controlled supplementation trial demonstrated no effect of an add-on relevant daily dose of selenium on hyperthyroid patients with Graves disease.