Volume 103, Issue 9, September 2018

Biallelic-inactivating mutations in the glucagon receptor cause glucagon cell hyperplasia and neoplasia, also termed Mahvash syndrome. We report a case of GCHN presenting with hypercalcemia.

A rare combination of gestational gigantomastia and PTHrP-mediated hypercalcemia, with resolution of hypercalcemia after termination of pregnancy, suggests an underexplored placenta-breast axis.

In this review, we describe the findings of several studies showing that 1-h-PG ≥155 mg/dL can identify individuals at increased risk of diabetes among subjects with NGT.

We reviewed the literature about programmed cell death-1 (PD-1) inhibitor–induced type 1 diabetes mellitus. Fasting or random plasma glucose and HbA_1c levels should be tested at each administration.

This review discusses the findings of GWAS of height, including the identification of relevant biological pathways and implications for growth disorders and height prediction.

We generated seven new thyroid cell lines as well as 10 PDTX mouse models. We discuss methodology and describe optimal criteria for creating patient tumor tissue–derived preclinical thyroid cancer models.

Romosozumab—an antisclerostin antibody—treatment in men with osteoporosis for 12 months led to significantly greater gains in spine, femoral neck, and hip BMD than placebo and was well tolerated.

Here, we show that BMI does not mark adiposity in Chinese-Americans but instead that subcutaneous fat fibrosis correlates with both visceral obesity and reduced glucose control in this population.

Excess mortality was found for 10 years after hip fractures and approximately 5 years after virtually all proximal and lower leg fractures in this nationwide registry-based follow-up study.

We studied several doses of GKS2881078 in older healthy males and females for up to 56 days. GSK2881078 was well tolerated and produced dose-dependent increases in muscle mass.

PLIN1 frameshift variants were reported to cause lipodystrophy. We investigated sequencing data from over 140,000 people and established that null variants in PLIN1 do not cause lipodystrophy.

In this large-scale, population-based study, we found that having diabetic retinopathy was an independent risk factor for the development of Parkinson disease.

The fetal estrogen estetrol (E4) in healthy men shows promise as a safe and effective drug for use in prostate cancer.

In a prospective study, ⁶⁸Ga PET/CT in medullary thyroid cancer was not superior to currently used imaging studies, except in bone. Expression of SSTR did not correlate with ⁶⁸Ga-DOTATATE uptake.

Pancreatic fat, body fat distribution, and metabolic parameters were measured in women with and without a history of GDM. Pancreatic fat did not correlate with β-cell function.

Genetically determined plasma 25-hydroxyvitamin D was not associated with either Crohn disease or ulcerative colitis in a Mendelian randomization study of 120,013 individuals.

Free 25(OH)D levels were affected by clinical conditions as well as by race, BMI, and DBP haplotype. Relationships between free and total 25(OH)D were affected only by clinical conditions and BMI.

Multivariable-adjusted analysis in a diverse sample of Hispanic/Latino youth revealed associations between SB and risk factors for diabetes and cardiovascular disease, independent of BMI.

GDM elevates saturated fatty acids in maternal plasma and the placenta and contributes independently of BMI to placental inflammation that is not transmitted to the fetus.

We found that hypothyroidism was independently associated with a higher risk of all-cause mortality in older patients and that thyroxine replacement therapy was associated with decreased mortality risk.

We analyzed data of 219,522 Chinese patients with type 2 diabetes and found that there were large variations in the prevalence and risks of coronary heart disease and stroke in T2DM in China.

The relationship of plasma metabolites with altered glucose metabolism was characterized in 472 older adults. Altered glucose metabolism was associated with 4 amino acids and 16 lipid species.

Patients with GIOP and vertebral fracture have a significant reduction in total vBMD and cortical thinning, which may help identify high-risk patients considered to have low fracture risk as assessed by DXA or FRAX.

Frequent C-peptide measurements in subjects with newly diagnosed type 1 diabetes through the use of dried blood spots at home provide a convenient and reliable method for monitoring β-cell function.

T regulatory type 1 cells, a subpopulation of Treg cells with a potent suppressive effect, are significantly decreased and exhibit a diminished suppressive function in autoimmune thyroid disorders.

During vitamin D repletion, early rise in free, but not total, 25(OH)D was associated with changes in markers of 25(OHD) entry into kidney and parathyroid cells, suggesting a role for free 25(OH)D.

MISRII/AMHRII is expressed in both granulosa and theca cells; this indicates that MIS/AMH, produced in the granulosa cells, is active in the theca cells as well.

Cortisol plays an important role in metabolic processes. It could influence body composition, affecting anthropometric indicators such as weight and height in early childhood.

Cross-sectional study of 55 women aged 45 to 60 years. For a given fat mass, postmenopausal women showed increased ectopic lipid deposition and insulin resistance compared with premenopausal women.

In this study, we used CT to investigate vBMD in patients receiving ESI. We found that patients treated with ESI had lower vBMD compared with age- and sex-matched controls.

Hydrocortisone treatment affected symptoms of fatigue and physical functioning by altering tryptophan metabolism in patients with secondary adrenal insufficiency.

A damaging mutation in HS6ST1 was found to cause familial self-limited delayed puberty (DP), and heterozygous Hs6st1 loss produced DP in mice. Mutations in other GnRH deficiency genes were not seen.

Compared with simple and unrefined carbohydrate–enriched diets, refined carbohydrate resulted in the least favorable lipid profile but had little effect on other cardiometabolic indicators.

We found that statin use was associated with a decreased risk of osteoporosis, hip fracture, and vertebral fracture in stroke patients, with a dose-effect relationship observed.

In this randomized, placebo-controlled study, low-dose oxandrolone in prepubertal boys with Klinefelter syndrome leads to earlier puberty but does not impair testicular hormone production.

In PET studies, liraglutide did not alter myocardial fuel selection in metformin-treated T2D. This argues against a myocardial metabolic effect in cardiovascular disease benefits of GLP-1 treatments.

In this randomized, double-blind, placebo-controlled trial treatment with the IL-1 receptor antagonist anakinra increased testosterone levels in obese male patients with low testosterone.

Plasma aldosterone concentration was highly suppressed by dexamethasone in KCNJ5-mutated aldosterone-producing adenomas, indicating potential hyperresponsiveness to endogenous ACTH in such adenomas.

sLDLRs correlated positively and strongly with TGs and moderately with LDL-C in this cross-sectional study of 273 white Canadians. Loss-of-function in PCSK9 affected the correlation with LDL-C.

A total of 1997 thyroid nodules were assigned a 2015 ATA category and compared with cytopathology. The positive predictive value for cancer increased by category; however, a number of biopsies were needed to detect a single cancer.

This paper is a commentary on the study by Livhits et al. addressing the relative utility of two molecular diagnostic techniques for thyroid nodules indeterminate on FNA cytology.

Chronotherapeutic glucocorticoid replacement modulates clock gene expression.

A new gain-of-function CASR mutation has been described as a cause of hypocalcemia. This mutation, unlike other such mutations, is inherited recessively and has implications in genetic evaluation.

miRNAs are significantly different between AML and adrenocortical tumors. hsa-miR-451a is overexpressed in AML, but there is no significant difference in hsa-miR-483-5p in AML vs ACC.

In a 10-year longitudinal study in T1D, there was evidence that reduced bone mineral density occurred early in males but then stabilized whereas it remained normal throughout in females.

In a longitudinal birth cohort study, we observed associations between total bisphenols and phthalic acid with a longer TTP in women lacking preconceptional folic acid supplementation.

We studied the reference ranges and determinants of thyroid function (TSH, free and total T4 and T3) during early pregnancy and found associations between tobacco smoke exposure and thyroid function.

This study addresses important gaps in knowledge about the risk of malignancy, outcomes, and optimal interval of surveillance of cytologically benign thyroid nodules in children.

Based on data on adrenocortical carcinoma from a national cancer registry, we conclude that predictors of survival include tumor stage and grade and comorbid conditions.

All patients with PHPT were identified over a 10-year period, and the prevalence and predictors of renal function and calcifications were assessed.