Volume 102, Issue 5, 1 May 2017

FHA is a form of chronic anovulation, not due to identifiable organic causes, but often associated with stress, weight loss, excessive exercise, or a combination thereof.

Two patients with biallelic CYP24A1 mutations and intractable hypercalcemia were treated with rifampin for up to 13 months. CYP3A4 induction by rifampin resulted in normalization of mineral metabolism.

In contrast to current teaching, SDH-deficient GISTs may arise outside the stomach. Recognizing this class of GIST is important owing to the distinct natural history and strong syndromic associations.

The case of a patient with acromegaly who developed ketoacidosis after empagliflozin was added to his therapy is presented. Growth-hormone excess may predispose to SGLT2i-associated ketoacidosis.

We conducted genetic and functional assays from patient with severe hypertriglyceridemia and recurrent pancreatitis and found a novel missense APOC2 variant causing apoC-II deficiency.

ACAN gene sequencing should be considered in SGA children with persistent short stature, advanced BA, midface hypoplasia, joint problems, or broad great toes. GH treatment with 2 years of GnRHa is beneficial.

This study demonstrates, through the analysis of duodenal biopsies, that gut mucosa shows a peculiar signature of inflammation and a specific microbiota composition in subjects with type 1 diabetes.

Testosterone replacement in men with low or low-normal serum testosterone concentrations was not associated with prolongation of QTcF duration.

Functional imaging tests improve patient management in the follow-up of metastatic enteropancreatic neuroendocrine tumors. Follow-up programs should be tailored according to tumor features.

Preconception-initiated low-dose aspirin improved pregnancy and live birth rates among women with low-grade inflammation prior to pregnancy.

In chronic treatment of hypoparathyroidism, vitamin D₂ caused less hypocalcemia requiring acute medical care than calcitriol and no differences in hypercalcemia or serum creatinine after >8 years.

In patients <18 years old with lipodystrophy, metreleptin treatment improved diabetes, hypertriglyceridemia, and NAFLD, without altering growth or pubertal development.

Adiposity was strongly associated with worsening of metabolic health traits, whereas there was little evidence for the effects of cardiorespiratory fitness or fat-free mass on metabolic health.

Whole-exome sequencing is an effective tool for diagnosis of Turner syndrome. Incorporation of this technology in newborn screening may lead to earlier diagnosis and improved patient outcomes.

Lower concentrations of serum bioavailable estradiol and bioavailable testosterone were associated with an increased risk of fracture irrespective of race/ethnicity.

Studying the features of patients with type 2 diabetes and renal glycosuria, we found fewer cardiovascular risk factors and different genetic factors in patients with renal glycosuria.

Through a combination of linkage analysis and whole genome-sequencing, a mutation in the paternally expressed imprinted gene DLK1 in a family with central precocious puberty is identified.

In a prospective cohort of hemodialysis patients who underwent protocolized measurement of repeated serum thyrotropin (TSH) levels, higher TSH levels were associated with higher death risk.

A phase 2 clinical study of long-acting, CTP-modified GH (MOD-4023) in GHD children using a once-weekly regimen confirms its safety profile and supports the initiation of a pivotal phase 3 study.

Microarray and functional studies of three leiomyoma cell populations, including stem cells, implicated the IGF2 pathway in paracrine signaling and as important for cell proliferation.

The article summarizes the results of a pilot trial on a novel approach to inducing remission of type 2 diabetes comprising lifestyle approaches and intensive treatment with insulin and oral drugs.

Plasma AFABP levels are higher in neonates compared with adults and higher in preterm compared with full-term infants. Among full-term infants, those born SGA have lower AFABP compared with AGA and LGA.

In a family-based cohort study of the DICER1 syndrome, we quantified the remarkably elevated rates of multinodular goiter and propose a model of DICER1-associated thyroid carcinogenesis.

We demonstrated that thyroidectomized patients carrying enzymatic deficient Thr92Ala have reduced intracellular and serum T3 concentrations that are not adequately compensated for by LT4.

Versican, a proteoglycan abundant in uterine leiomyoma, is primarily present as proteolytically cleaved forms and influences the expression of estrogen receptor 1 and progesterone receptor-A mRNAs.

Neither high- nor low-dose resveratrol had beneficial effects on inflammation or the metabolic syndrome in middle-aged men. High-dose treatment increased lipid and fructosamine levels.

In a large cohort of adolescents, early insulin resistance assessed by oral glucose tolerance test is found only in girls and is not accompanied by postexercise muscle mitochondrial dysfunction measured with spectroscopy.

A total of 23,984 patients treated with recombinant growth hormone in eight countries since 1984 were followed. Cancer incidence overall did not relate to growth hormone, but certain cancers showed raised risks.

In 53 prepubertal children with GHD, annualized mean height velocity for three doses of weekly TransCon GH was not statistically different from daily Genotropin, and TransCon GH was well tolerated.

Elagolix rapidly suppressed gonadotropins and ovarian sex hormones in healthy premenopausal women in a dose-dependent manner.

Breast aromatase levels are higher and more strongly correlated with markers of metabolic dysfunction after menopause, providing a mechanism for increased breast cancer risk in these women.

This worldwide retrospective cohort study evaluates the efficacy and safety of GH treatment in a unique large group of children with PWS who were registered in the KIGS.

IL-1 antagonism in obese individuals with features of the metabolic syndrome leads to a decrease in cortisol and ACTH levels, but also to a reduction in systolic blood pressure and heart rate.

In a population-based open-cohort study, patients with T2DM who were exposed to dapagliflozin had a lower risk of death from any cause irrespective of their baseline CVD risk.

Loss-of-function mutations in AIRE encoding the autoimmune regulatory protein can cause isolated hypoparathyroidism as well as the more typical disorder type 1 autoimmune polyglandular syndrome.

We studied bone acquisition in children and adolescents with cystic fibrosis, and found this to be most impaired in the least well children, as judged by their nutritional status and lung function.

We demonstrate in two independent and genetically distinct cohorts from Denmark and Chile that genetic variations of FSHB and FSHR along with BMI are associated with pubertal timing in boys.

FIO is a rare metabolic bone disease for which currently no effective treatment modalities are available. We showed excellent response to rhGH therapy in two siblings.

We showed an alternative prognostic system that incorporated TERT mutations into the DRS that was effective for prediction of both recurrence and survival of nonmetastatic DTC.

We studied people with prediabetes and found that a 12-week diet supplemented with olive oil lowered liver fat measured with MRS and improved hepatic insulin sensitivity in the absence of weight loss.

This article involves the study by Castagna et al. published in this issue of the Journal of Clinical Endocrinology & Metabolism on the association and functional analyses of genetic variation in DIO2.