Volume 102, Issue 1, 1 January 2017

We examined pancreatic islet composition from a deceased patient with SU-unresponsive KCNJ11-related diabetes compared with 13 age-matched control specimens and found reduced insulin-positive cells.

Transplacental passage of maternal stimulating TSH receptor antibodies caused thyrotoxicosis in a fetus/neonate from a woman with levothyroxine-treated Hashimoto thyroiditis.

We evaluated the metabolic profile of a dopamine β-hydroxylase–deficient patient. We provide evidence for hyperinsulinemia, enhanced glucose-stimulated insulin secretion, and insulin resistance.

The encapsulated noninvasive papillary thyroid carcinoma follicular variant was misclassified as carcinoma for 30 years. By studying its history, future misclassifications of tumors will be avoided.

DBS-Tg is a sensitive biomarker of iodine status in PW, the reference range in iodine sufficient PW is 0.3-43.5 μg/L and a median DBS-Tg <10 μg/L indicates iodine sufficiency in PW.

In a cohort study of 852 older men, SHBG and dihydrotestosterone, but not free testosterone, were inversely associated with HOMA-IR. Only dihydrotestosterone was inversely associated with diabetes risk.

No difference in heritability of bone microarchitecture between mother-daughter and mother-son pairs was detected, even after adjustment for gonadal status. No systematic drop of heritability across menopause was seen.

Primary human GnRH neurons have been isolated and characterized. Exposing these cells to TNF-α directly affected their function by interfering with KISS1R expression and ciliogenesis.

Vertebral volumetric BMD and strength are impaired in women with low-weight and “atypical” anorexia nervosa (currently normal weight), with current and prior low weight and amenorrhea likely factors.

This study shows that the thyroidal response to hCG is impaired in women with thyroid autoimmunity and demonstrates that this may be the underlying reason for a higher risk of premature delivery.

A retrospective cohort study including 273 postmenopausal DTC patients was conducted: longer duration of TSH suppression was associated with decreased vertebral bone strength by altering TBSs rather than BMD.

Using daily measures of luteinizing hormone from 1214 eumenorrheic women (3430 menstrual cycles) in the EAGeR Trial, we observed no effect of low-dose aspirin vs placebo on anovulation.

Herein we describe a family in which 3 members had loss-of-function mutation of the ERS1 gene. Clinical evaluation and genetic and mutational analysis were performed.

We conducted a 20-week trial and found 2000 IU/d vitamin D₃ raised 25(OH)D and 25(OH)D_Bio, but the uncorrected deficiency remained high, which might be partially attributed to genetic factor effect. 

Long-term caloric restriction in healthy nonobese humans increases mitochondrial efficiency but only in those with near-normal mitochondrial function at baseline.

We conclude that daughters of women with PCOS appear to have a reproductive and metabolic profile across the pubertal transition that is very similar to that of daughters of control mothers. 

This randomized study in children with obesity showed improvement of insulin sensitivity in the linoleic acid-treated group. Metformin had a beneficial effect on lipid profile.

MiR-29c is elevated in endometriotic eutopic endometrium resulting in decreased FKBP4 expression. These changes may contribute to progesterone resistance in a subset of women with endometriosis.

This study evaluated whether a single baseline HbA1c at GDM diagnosis identifies pregnancies at higher risk, concluding that an HbA1c >5.9% threshold has utility in standard but not early GDM.

This 15-year prospective study in boys documents the tracking from prepuberty to the attainment of peak bone mass and strength of the positive interaction between protein intake and physical activity.

We report here the presence, using IFN-γ ELISPOT assays, of autoreactive, MHC class I–restricted, CaSR-specific cytotoxic T cells in the peripheral circulation of patients with hypoparathyroidism.

We studied the effect of 2 years of low-dose androgen therapy (oxandrolone) in children with Klinefelter syndrome and found improvement of body composition and fasting triglycerides.

Magnitudes of associations between adiposity measures and insulin resistance vary between US Hispanic/Latino boys and girls in different periods of pubertal development.

We studied 68Ga-DOTATATE PET/CT imaging in patients with insulinoma and found it identifies most tumors and should be considered as an adjunct imaging study.

PDGs serve as a stem cell niche in the pancreas. Replication in PDGs is increased in T1D, implying ongoing inflammation, but the majority of cells in PDGs have an exocrine rather than endocrine fate.

Evaluation of 3 patients with JPD1 and 14 heterozygous family members revealed unidentified extraskeletal traits in patients and elevated bone turnover in mutation carriers.

In BMI-discordant twin pairs, LF discordance is associated with larger differences in circulating metabolite profiles during a glucose tolerance test, suggesting links to cardiovascular risk.

We developed a UPLC-MS/MS method for measurement of 17OHPreg and DHEAS. Reference ranges based on age, sex, and pubertal stage were determined. The impact of BMI on the Δ5 pathway was studied.

Chronic hypoxia augments the pregnancy-associated rise in Epo but has no effect on sEpoR, a finding that may be important for vascular adaptation to pregnancy.

We assessed vertebral fractures and BMD in hypoparathyroidism. Despite increased BMD, vertebral fractures were more prevalent in hypoparathyroidism, especially in postmenopausal women and those on anticonvulsants.

The study identifies serum levels of 1,25-dihydroxyvitamin D as a useful predictive biomarker of the absence of hypercalciuria in patients with permanent postsurgical hypoparathyroidism.

In a large, well-characterized study of adults aged 65 years and older, we showed that post-OGTT levels of GH/IGF axis components IGFBP-1 and ghrelin predict major age-related health events and mortality.

Diet and intrinsic factors influenced fuel preference during 24 hours of fasting and consumption of 4 different overfeeding diets. Higher fasting urinary epinephrine correlated with smaller energy expenditure reductions.

Functional characterization of 6 new LHX4 mutations identified among 417 patients with hypopituitarism is provided, broadening the LHX4-associated phenotypes, with insight into the role of the LHX4 LIM domains.

Through 5 years after the cessation of hormone therapy (HT) in the Women’s Health Initiative trials, hip and total fracture rates were not increased for former HT users compared with former placebo groups.

No significant differences in markers of inflammation or oxidative stress were observed in coronary artery bypass surgery patients treated with intensive vs conservative blood glucose control.

In the 2-year randomized weight-loss intervention, dietary fat significantly interacted with genetic variations of circulating adiponectin on long-term changes in appetite and adiponectin levels.

Evidence shows the association between the expression of genes involved in cholesterol transport and metabolism in the gut and markers of vascular disease in the form of FMD and IMT.