Volume 102, Issue 9, 1 September 2017

Whole-exome sequencing in siblings with a known homozygous DUOX2 mutation and unusually marked congenital hypothyroidism (CH) identified the human homozygous DUOX1 mutation, segregating with CH.

We studied a fatal case of thyroid carcinoma with KIF5B/RET rearrangement, typical of lung carcinoma. Whether this is a real thyroid cancer or not was discussed.

An analysis on 24 randomized clinical trials studying glycemic control in type 2 diabetic patients. Higher serum 25(OH)D levels lowered different glycemic measures, including HbA1c, FPG, and HOMA-IR.

This article presents the Osteopetrosis Working Group expert consensus guidelines for the diagnosis, monitoring, and medical treatment of patients with osteopetrosis .

Knowledge of THA pathogenesis remains incomplete. Due to elevated TSH and high incidence of associated conditions, patients with THA require careful follow-up and may need l-thyroxine treatment.

We studied how estradiol, progesterone, and ovarian effects mediate circulating lipids in premenopausal women and found a novel role for the corpus luteum in reducing low-density lipoprotein cholesterol.

In children with thyroid cancer, thyroglobulin antibodies are common but often transient, and are associated with more advanced disease at diagnosis.

A 2-year study in hemodialysis showing that serum klotho >280 ng/L is associated with 14% less cardiovascular events whereas fibroblast growth factor-23 predicts a 7% increase.

The specific pathology in elderly-onset type 2 diabetes was characterized. Elderly-onset type 2 diabetes was distinguished by pancreas atrophy and fibrosis with islet amyloid deposition.

We studied the overnight metabolic profile of patients during sleep, in the presence or absence of sleep apnea. Sleep apnea caused dynamic elevations of plasma FFA and glucose.

We compare the placental exosomes between normal and PE pregnancies throughout gestation. In addition, we investigated the microRNA profiles within these exosomes across gestational age.

Standardized mortality ratios for >21,000 children (9504 followed for ≥4 years) in a GH observational study were increased only for those with prior malignancy or underlying serious medical condition.

A concept of dysregulated immune response wherein the decrease in activated Treg cells exaggerates local inflammation and angiogenesis and thus facilitates endometriosis progression.

Using data from the ACCORD-MIND trial, this study demonstrates in older people with T2D a relationship between a simple measure of cognitive function (the DSS) and incident cardiovascular disease.

We examined providers and sites as predictors of testosterone use and guideline-concordant testosterone prescribing in the VA. Prescribing varied by provider age, specialty, years in VA, and region.

We studied adult humans and mice exposed to high TH levels during fetal life and found that they have resistance to TH likely due to increasing D3-mediated TH inactivation in the anterior pituitary.

Despite common belief, this study shows no independent role of multifocality in clinical outcomes of PTC; its indiscriminate use as a risk factor, prompting overtreatment, should be avoided.

We examined the relationship of IPFA with β cell mass in humans with and without diabetes. IPFA had little effect on β cell mass and the development of diabetes.

Atypical forms of congenital hyperinsulinism in infancy were found to be associated with a mosaic profile of immature islet cells. This was directly related to the altered expression of NKX2.2.

A mouse orthotopic medullary thyroid cancer model was developed and used to characterize a fluorescent-imaging agent, which may enhance intraoperative visualization and surgical resection.

This study showed favorable disease control, clinical effectiveness, overall survival, and low toxicity with PRRT in patients with functional metastatic PCC/PGL from two referral centers.

TP/IAT recipients completed 1 hour of exercise and demonstrated deficient endogenous glucose production, which may explain the exercise-induced hypoglycemic episodes they experience.

We studied patients with malignant pheochromocytoma and paraganglioma. Overall and disease-specific survivals were 24.6 and 33.7 years, respectively. Patients had a markedly variable clinical course.

In 11,359 ARIC study participants, thyroid function was more strongly associated with blood lipids than other risk factors. Cardiovascular outcomes were similar between thyroid function groups.

Studying patterns of gene expression that vary by menstrual phase, we found that overexpression of sFRP4 is a progesterone-regulated feature of leiomyomas that regulates smooth muscle proliferation.

This integrated in vivo and in vitro study examines the role of AKR1C3 in adipose androgen generation in PCOS, and how locally activated androgens exert lipotoxic effects on adipose lipid metabolism.

The FHBL2 phenotype seen in carriers of mutations in ANGPTL3 is caused by a critical reduction of its plasma levels of >75%. Low LDL levels inactivate PCSK9, causing increased LDL clearance.

Kisspeptin is a regulator of human fetal adrenocortical development and function. This finding suggests an important role for kisspeptin in the human feto-placental unit and maintenance of pregnancy.

In this follow-up study, we showed that in TPOAb-negative women a biochemical profile fitting with a lower thyroidal response to hCG stimulation was also associated with premature delivery.

From a prospective cohort of 365 patients with PitNETs, we validated a grading classification that identifies patients who have a high risk of recurrence or progression.

We studied the impact of a first-degree family history of diabetes (FHD) on placental circulation. We found that FHD was independently associated with maternal vascular perfusion abnormalities.

In a randomized trial of weight loss, reductions in visceral and subcutaneous adiposity were associated with increases in total testosterone in men and increases in SHBG in men and women.

We measured APOE ε genotypes and lipoprotein(a). APOE ε genotypes affect lipoprotein(a) concentrations but not the associated risk of myocardial infarction and aortic valve stenosis.

Metabolic analyses before and after surgical excision of pheochromocytoma or paraganglioma revealed these tumors impair glucose tolerance via inhibition of the early phase of insulin secretion.

Eating patterns peak at midluteal compared with follicular phase. Increased attention and reward brain region activation is associated with sex hormones and explains this variability.

We studied the interaction of protein dense food ingestion on the stimulation of mitochondrial protein synthesis and found no impairments in the response between young adults of different BMI scores.

Adrenomedullin and its receptors are elevated in adipose tissue from women with gestational diabetes mellitus; adrenomedullin increases lipolysis, leptin, and resistin and decreases insulin’s action.

We studied the association between prior pregnancy and autoimmune thyroid disease in the US population. A strong initial association was negated after controlling for age and other variables.

In adults with type 2 diabetes, the increased mortality and shortened lifespan were more apparent in younger adults, especially when they also had cardiovascular comorbidity.

We studied fasting and postprandial plasma levels of TG, apoB48, total apoB, and PCSK9 in subjects carrying PCSK9-LOF variants and found reduced levels compared with subjects without PCSK9 variants.

In patients with AI and ACS, evening doses of metyrapone reset the abnormal cortisol rhythm to normal and reduce the cardiovascular risk marker IL-6.

Preeclampsia downregulates 16 miRNAs, including miR-29a/c-3p, in fetal endothelial cells, which may impair fetal endothelial cell migration by disturbing the FGF2-stimulated PI3K-AKT1 pathway.

Our data have demonstrated that the IGFBP-1 and -2–mediated insulin-independent glucagon-induced decrease in IGF-1 bioactivity is a mechanism through which glucagon induces GH secretion.

We studied VAV2 expression in a large, multicenter cohort of adrenocortical carcinoma cases and validated its role as a prognostic marker.

We compared two levothyroxine dose-adjustment algorithms in hypothyroid pregnant women. Both algorithms maintained maternal TSH within trimester-specific reference ranges the majority of the time.

We studied BMD in subjects born SGA, until 5 years after cessation of GH treatment. BMD deteriorated after GH-stop, but at the age of 21, BMD proved similar as in untreated subjects born SGA.

In this study, we found that mutations in human TRα affect the balance between proliferation and differentiation of erythroid progenitor cells, which may contribute to anemia in most RTHα patients.

We show that the concentration of PAPP-A, an IGF-activating enzyme, and in vitro activity of the IGF system are significantly higher in pleural fluid than serum from patients with pulmonary disease.

We studied how chronological and biological aging influence muscle anabolism and found that nutrient-stimulated muscle protein synthesis rates are impaired in obese, inactive older individuals.

Studying several typings of a Russian APS-1 cohort, we found wide clinical variation and what to our knowledge were novel components and nine novel mutations in AIRE, p.R257* being the most common.

Hypothalamic glucose transport kinetics in healthy humans were the same in the presence and absence of experimentally induced hypoglycemia-associated autonomic failure.

Somatostatin and sex hormone receptors were investigated in NFPAs. SSTR3 was highly expressed. Estrogen receptor α was related to reintervention and served as a prognostic marker in male patients.

We found that detection of circulating tumor DNA strongly correlates with a worse survival outcome in patients with MTC.

GlycA, IL-1RA, and hs-CRP were differentially associated with changes in insulin secretion, insulin sensitivity, and incidence of type 2 diabetes and CVD events during the follow-up of the METSIM cohort.