Volume 104, Issue 12, December 2019

Immunoassay interference can result in apparently high PTH serum levels.

We have described novel heterozygous PLIN1 frameshift variants in the largest cohort of FPLD4 reported to date and provide a set of arguments for their pathogenicity.

The presence of specific genetic alterations in craniopharyngiomas has important implications for the diagnosis and potential treatment of these neoplasms with molecularl targeted agents.

For macronutrient intake and inflammation, a Western diet is clearly associated with oxidative and inflammatory stress. These lead to insulin resistance and obesity.

A practical goal to prevent atherosclerosis in at-risk adults is an LDLc of <50 mg/dL. This goal is readily achieved with rosuvastatin and ezetimibe at 10 mg/d with minimal side effects and cost.

Five patients with hypopituitarism and arthrogryposis had mutations in MAGEL2 or L1CAM. MAGEL2 transcripts are in the hypothalamo-pituitary region, and L1CAM is hypothalamic during human development.

The study of screening discordant twin pairs showed a high concordance for CH, the importance of follow-up in both twins in the pair, and the role of nongenetic factors in the etiology of permanent CH.

Obese individuals have lower maximal fat oxidation values during exercise per unit of metabolically active tissue independently of age, sex, or cardiorespiratory fitness.

This study describes clinical, laboratory, and densitometric characteristics of patients with postsurgical hypoparathyroidism, correlating the results with TBS values, and presents data on fractures.

Intrinsic adrenal function and glucocorticoid replacement dose alter serum levels of adiponectin and high-density lipoprotein–cholesterol in patients with secondary adrenal insufficiency.

We developed and externally validated parsimonious risk scores (HKU-SG) in two large Chinese population-based cohorts to allow wider implementation of risk estimation in diverse Chinese settings.

Data from this randomized controlled trial show that vitamin D₂ reduces 25-hydroxylation of vitamin D₃ and 1-α hydroxylation of 25(OH)D₃, and increases 24R-hydroxylation of 25(OH)D₃.

An evaluation of the feasibility and sensitivity of ⁶⁸Ga-exendin-4 PET/CT in the detection of relevant lesions in patients with MEN-1 and hypogylcemia in comparison with MRI.

Our results indicate that a maternal low FT4 and high maternal T3 are associated with a higher risk of LGA newborns, with additive effects for persistence of high FT4 from early to late pregnancy.

We illustrate the patterns of aldosterone lateralization in response to cosyntropin stimulation during AVS and show that disease severity and aldosterone-driver mutations affect these patterns.

This study reports successful assisted reproduction treatment of women with LHCGR mutations using their own oocytes.

This study evaluated fezolinetant for the treatment of vasomotor symptoms in menopausal women. Treatment of 12 weeks reduced frequency and severity of vasomotor symptoms and improved quality of life.

This study examined the clinical course of incidentally identified pituitary microadenomas in children, revealing a benign course. Patients can be followed clinically with infrequent or no imaging.

This study showed no difference in the test performance of serum PCT for predicting bacterial sepsis in patients with hypothyroidism.

Description of a gene DHX37 involved in gonadal dysgenesis etiology, especially in embryonic testicular regression syndrome.

The present landmark study measured SC free cortisol profiles continuously for 72 hours in free living healthy individuals, paving the way for ambulatory monitoring of diseases of the HPA axis.

Since 2007, adjuvant chemotherapy has been used more frequently for patients with resectable ACC. Survival for patients who undergo surgery with adjuvant chemotherapy has improved but remains low.

This meta-analysis of individual participant data showed that a lower urinary iodine/creatinine ratio during pregnancy was associated with lower verbal IQ up to the 14th week of gestation.

Plasma concentrations of 35 acylcarnitines was measured in 35 patients with mitochondrial myopathy. Derangements with a specific pattern involving hydroxylated long-chain acylcarnitines were observed.

The Results From Real-World Clinical Treatment With Tresiba study demonstrated that use of degludec was associated with significantly lower hypoglycemia rates and better glycemic control in patients switching from other basal insulins.

This prospective cohort study found an association between higher serum FABP4 concentrations and a higher risk of incident T2D in the study population overall and a higher risk of stroke in men.

Clusters of youth with type 1 diabetes based on BMI z score and hbA1c measures over the first decade of diabetes are associated with different early and subclinical diabetes complications.

In a cohort of older men, diabetes mellitus was associated with a lower risk of prostate cancer. This was not mediated through sex hormones, IGF1 or its binding proteins, glucose, HOMA2-IR, or AGEs.

The risk of birth defects after early pregnancy exposure to antithyroid drugs and abnormal maternal thyroid function was evaluated in a Danish nationwide register-based cohort and in birth cohorts.

Endogenous circadian rhythms in reproductive hormones are more robust during the follicular compared with the luteal phase of the menstrual cycle and persist under standard sleep-wake conditions.

Linking SEER data to patient surveys revealed thyroid microcarcinomas are more likely to be detected by thyroid ultrasound and patients were less likely to have surgery for known cancer.

Denosumab 60 mg given subcutaneously every 3 months decreased bone pain and serum markers of bone turnover and was well tolerated in 12 patients with severe bisphosphonate-refractory fibrous dysplasia.

Longitudinal sex hormone phenotypes were identified in young girls using principal component and cluster analysis. The age of pubertal milestones differed by the phenotypes.

ART-treated WHIV exhibit increased intramyocardial triglyceride content in relation to decreased diastolic function. Therapies targeting myocardial steatosis may warrant investigation among WHIV.

In a large cohort of systematically assessed childhood cancer survivors, associations between HP disorders, tumor and treatment variables, and adverse health outcomes were elicited.

We present data on imaging and histopathology in a large cohort of consecutive benign and malignant insulinomas.

In this prospective cohort study of 75-year-old women followed for 10 years, women with 25OHD insufficiency were frailer at all assessment points but 25OHD was not associated with frailty progression.

Obligate carriers of a CYP21A2 mutation, parents of patients with CAH, have a lower mortality than the general population, HR 0.79 P = 0.002, the cause of death less often being an infection.

PCOS is associated with global and genome-wide DNA methylation remodeling in a cell type–specific manner, providing new insights into pathways that have previously been unexplored.

We found that excess liver fat is related to limited VLDL-TG secretion, not greater hepatic uptake of plasma free fatty acids, in nondiabetic patients with severe obesity.

Follicle arrest in PCOS is characterized in GCs by differential regulation of genes involved in follicle growth and function: LHCGR, FSHR, AR, CYP11A1, CYP19A1, STAR, and INHBA.

Nivolumab demonstrated modest antitumor activity among patients with advanced ACC. The safety profile was consistent with previous clinical experience without unexpected adverse events in this population.

In healthy older subjects healthy aging is associated with reductions in fasting GLP-1 and GIP, and glucose-stimulated GLP-1.

We show the importance of dietary fat type on liver fat accumulation and ceramides during overfeeding-induced weight gain in 61 overweight men and women.

Corneal nerve branching was enhanced in painful compared with painless diabetic neuropathy; the degree of corneal nerve fiber loss did not differ between the two entities.

A systematic genetic screen in patients with congenital isolated TSH deficiency was performed, revealing about half of them had any genetic defects. The IGSF1 defect was the leading cause.

Older hypogonadal men were treated with testosterone or placebo gel for 12 months. Testosterone treatment increased PSA levels ≥1.7 ng/mL in 5% of men and ≥3.4 ng/mL in 2.5% of men.

Statin-treated patients with elevated Lp(a) remain at high risk of cardiovascular disease. Our findings suggest this is a consequence of increased production of Lp(a) particles in these patients.

Loss of PLIN2, a target gene of progesterone receptor signaling, increases leiomyoma metabolic activity and reprograms leiomyoma cells to a pro-proliferative phenotype.

Rates of over- and undertreatment are milder in obese LT4 users than reference nonobese populations and improve with aging. Age, body composition, and sex influence LT4 requirements in obesity.

We present data from a family with 46,XY PAIS with a complex defect (∼1100 bp) in the 5′UTR AR. It was caused by a LINE-1 insertion in the 5′UTR of the AR gene disrupting AR expression.

Mifepristone treatment may be an effective alternative to bilateral adrenalectomy in patients with hypercortisolism due to primary BMAH.

This study shows that estrone and testosterone increase in women after 70 years of age and that testosterone levels in women aged 70 years or more are similar to levels measured in premenopausal women.

A prospective study of associations of SHBG and TT with incident CVD in community-dwelling men found that elevated SHBG and low TT are independently associated with an increased risk of incident CVD.

In human adrenocortical carcinoma cell line HAC15 and strips obtained ex vivo from aldosterone-producing adenoma, aldosterone increased CYP11B2 gene and protein expression via GPER receptor.

In this population-based cohort (n = 3882), there is a nonlinear, independent association between dietary acid load and NAFLD, which may explain the previously found link between animal protein and NAFLD.

Genetic association of a major Asian haplotype of KCNJ18 with TPP, suggests the contribution of the haplotype to the high prevalence of TPP in Asian populations.

We found that exosomal H19 could inhibit the growth of distal tumor cells. Plasma exosomal H19 may serve as an important biomarker for predicting medical responses of patients with prolactinomas.

Comprehensive molecular profiling of plasma samples improved classification and stratification of subjects with IGT over and above clinical measures.

Concentrations of 10 TGF-β family members in small antral follicle fluids from women with or without PCOs highlight endocrinological characteristics that may be related to aberrant follicle growth.

MiR-137 inhibits cell proliferation, invasion, and survivals of prolactinomas by targeting MITF in vivo and in vitro. Wnt signaling pathway was involved in tumor suppression of miR-137.

In obese individuals after RYGB surgery, glucagon concentrations were increased in postprandial plasma samples and gut biopsy specimens, which also harbored cells costained for GLP-1 and glucagon.

Plasma and salivary concentrations of adrenal-specific 11-oxygenated C19 androgens closely correlate and are promising biomarkers for noninvasive therapy monitoring in congenital adrenal hyperplasia.