Volume 103, Issue 11, November 2018

Update of best practice guidelines for the clinical management of congenital adrenal hyperplasia with added considerations for patient safety, quality of life, cost, and utilization.

The long-term follow-up of females with CAH who underwent urogenital reconstructive surgery shows variable sexual function.

Individuals with CAH demonstrate a high prevalence of cardiovascular and metabolic risk factors.

We identified four novel IGF1R variations expended the mutation spectrum and demonstrated autosomal recessive inheritance model displaying a severe developmental delay and mental retardation.

This article presents a summary of our current knowledge of the diagnosis, evaluation, management, and natural and interventional history of primary hyperparathyroidism.

The guidelines represent an initial pediatric endocrine protocol to address adrenal insufficiency screening in males identified to have adrenoleukodystrophy by newborn screening.

We assessed cognitive functioning, HRQoL, and psychosocial functioning questionnaires completed at AH in young adults born SGA with GH treatment with or without additional GnRHa treatment.

We studied the sex differences in prenatal programming of adult metabolic syndrome (MetS) by maternal androgens. Higher maternal androgen levels predicted MetS risk in adult female offspring.

Multiple hormonal and metabolic alterations occur in CHF. Repeatedly measured levels and rising slopes of IGFBP-1, IGFBP-2, IGFBP-7, and FABP-4 predict poor outcome in CHF.

Measurement of aldosterone by LC-MS/MS gave lower values than RIA. Proposed LC-MS/MS cutoffs for PA screening and confirmatory testing performed as well as current RIA cutoffs.

CXCL16 associated steatosis with fibrosis and inflammation in NAFLD, and it influenced hepatocyte–stellate cell crosstalk via lipid metabolism, mitochondrial dysfunction, and the Hedgehog signaling cascade.

Serum TSH level at the lower end of the reference range may be associated with low muscle strength, especially in older men.

Using interaction and Mendelian randomization analyses, we found that the association of blood lead level with body mass index (BMI) was significantly modified by BMI genetic susceptibility.

High-dose diazoxide treatment of 1 year results in a substantial decrease in fat mass, blood pressure, and lipid levels at the cost of a small rise in blood glucose levels.

Heterozygous donor splice site mutations in TBX1 located in the 22q11.2 region can cause autosomal dominant isolated hypoparathyroidism as well as 22q11.2 deletion syndrome.

In this longitudinal 5-year study of adults with severe obesity, we documented sustained high-turnover bone loss and deterioration of bone microarchitecture in the 5 years after RYGB.

SSST is much more sensitive to RSST in confirmation of PA (including unilateral), highly specific, and much cheaper and less complicated than FST.

We studied the association of thyroid function and bone mass during childhood and found an inverse association of FT4 with bone mass, but no consistent association of TSH with bone mass.

Transcriptome analysis of human endocrine cancers and in vivo genetic manipulation of Sod2 in mouse models demonstrated that Sod2 acts as a tumor suppressor or promoter, depending on tumor context.

This placebo-controlled clinical trial demonstrates intravaginal testosterone alleviates vaginal dryness and dyspareunia and improves sexual well-being in women taking an aromatase inhibitor.

After hyperinsulinemic euglycemic clamp, ∼50% of subjects achieve glycemic stability within 1 hour; glucose tolerance, insulin sensitivity, and secretion are major determinants of glycemic recovery.

LT4 doses were adjusted in subjects with hypothyroidism to achieve low-normal, high-normal, or mildly elevated TSH levels. No major effects were seen on energy expenditure or body composition.

In a double-blind randomized controlled trial, 6 months of pitavastatin treatment did not change hepatic or whole-body insulin sensitivity or reduce liver fat in abdominally obese men with insulin resistance.

In this retrospective cohort study of women undergoing IVF, extremely elevated MIS/AMH levels in the setting of PCOS are significantly associated with spontaneous preterm birth.

Genetically determined decrease in transferrin expression in human adipose tissue results in insulin resistance.

Patients with obesity achieving live births have lower initial hCG values compared with women who are nonobese. The mean percentage of increase in hCG was normal (>53% in 2 days) in all BMI classes.

Radioactive iodine dose was independently associated with clonal hematopoiesis (CH), a precursor clonal state that confers increased risk of leukemia. Patients with CH had decreased survival.

In a cohort of older men, glycemia associates positively with CML and reciprocally with esRAGE. Circulating esRAGE is associated with bone turnover while CML predicts incidence of hip fracture.

We report that DXA (aBMD and TBS) and cQCT (vBMD) yielded inconsistent results in patients receiving TSH suppressive therapy after undergoing total thyroidectomy for papillary thyroid cancer.

The LH surge increases FOS and JUNs in ovulatory follicles, and these factors are necessary for the expression of specific ovulatory genes required for the rise in prostaglandins in the human ovary.

Wnt5a serum levels and different parameters were measured in 896 people to gain deeper insights into wnt5a physiology. Wnt5a might be an important factor linking inflammation to metabolism.

Patients with PHP1A have reduced energy expenditure without concomitant change in food intake or physical activity, resulting in early-onset obesity. They may also have increased risk of dysglycemia.

We used population data to estimate unbiasedly penetrance of pathogenic RET mutations for medullary thyroid cancer, revealing that p.Val804Met is vastly less penetrant than other RET mutations at ∼4%.

MED12 exon 2 mutations were found at high frequency (54.1%) in UFs from Hispanic women of South Texas, leading to selective disruption of Mediator kinase activity in MED12 mutation–positive tumors.

GI abnormalities are common in McCune-Albright syndrome (MAS). MAS-associated pancreatic disease represents an excellent model for studying the pathophysiology of Gα_s-related GI disease.

A more androgenic sex hormone pattern was found to be inversely associated with NT-proBNP levels cross-sectionally while also associated with greater longitudinal change in NT-proBNP levels over time.

This prospective cohort study tracked gestational weight gain from preconception throughout pregnancy.