Endocrine Abstracts

Background: Pediatric differentiated thyroid cancer (DTC) has an excellent prognosis, but has unknown late effects of treatment. Initial cardiac evaluation showed subclinical diastolic dysfunction in 20% of adult survivors. In this follow-up study, we determined the clinical course of this finding.Methods: This multicenter study, conducted between 2018 and 2020, re-evaluated survivors 5 years after the first evaluation. The primary endpoint was echocardi...

Introduction: There is growing evidence that quality of life (QoL) in patients with adrenal insufficiency (AI) is impaired. Undertreatment with glucocorticoids is associated with symptoms such as fatigue and gastrointestinal complaints whereas overtreatment is associated with impaired QoL. However, evidence for this is derived from observational studies which are prone to bias. Therefore, the aim of the present study was to compare two different physiological doses of hydrocor...

Introduction: The Thr92Ala polymorphism of deiodinase 2 (DIO2) is associated with increased expression in the brain of genes associated with oxidative stress, and may predict favourable response to combination thyroxine (L-T4) plus triiodothyronine (T3) therapy. We examined whether the Thr92Ala polymorphism (rs225014) was associated with differences in thyroid hormone parameters, health-related quality of life (HR-QOL) and cognitive functio...

Introduction: A wide variety in hydrocortisone substitution dose-regimens are considered physiological for patients with secondary adrenal insufficiency. However, it is likely that cognition is negatively influenced by higher cortisol exposure to the brain. So far, no studies have been performed to assess the effects of treatment regimens administered for a substantial period of time with a low physiological hydrocortisone dose in comparison to a high physiological hydrocortis...

Objective: To assess the influence of use of long-acting somatostatin analogs on long-term health-related quality of life (HR-QoL) in relation to disease control in patients surgically-treated for acromegaly.Design: Cross-sectional study in two University Medical Centers in The Netherlands.Patients: One hundred and eight patients (47 m/61 f, mean age 54±11 years) with a minimal follow up period of 1 year after pituitary surger...

Objectives: Congenital hypothyroidism (CH) is an inborn thyroid hormone (TH) deficiency mostly caused by disturbances at the thyroid level (thyroidal CH, CH-T). Less frequently, but equally important, CH can be the result of hypothalamic/pituitary dysfunction (central CH, CH-C). Most CH newborn screening (NBS) programs are based on the measurement of thyroid-stimulating hormone (TSH), thereby only detecting CH-T. The Dutch NBS detects CH by measuring total T4 concentrations in...

Background: LIM kinase 1 (LIMK1) plays a pivotal role in dynamic actin remodeling through phosphorylation of cofilin. In turn, the dynamic remodeling of the actin cytoskeleton is involved in exocytosis, thereby contributing to tuned secretion of hormones and neurotransmitters, although the exact role of actin in these processes is still debated. Results: We report two individuals with de novo variants in LIMK1 with dissimilar clinical phenotypes: one ind...

Background: Cystic fibrosis (CF) is a genetic disorder in which a dysfunctional cystic fibrosis transmembrane regulator (CFTR) chloride channel can result in multimorbidity, including severe respiratory disease and reduced pancreatic exocrine secretion and diabetes. Recently, CFTR modulator therapy, has emerged with the potential of improving respiratory function and remission of diabetes. The effect of CFTR modulator therapy on pancreatic function in patients without preexist...

Background: Treatment of neuro-endocrine tumors (NETs) is often challenging, given the heterogeneity of primary tumor sites, the individual disease complexity and the variety of treatment options. If patients are progressive during first-line treatment with somatostatin analogues (SSA), peptide receptor radionuclide therapy (PRRT) is a validated treatment for somatostatin receptor overexpressing neuroendocrine tumors. The NETTER-1 trial has demonstrated a pronounced positive e...

Introduction: Prader-Willi Syndrome (PWS) is a complex syndrome including hyperphagia, pituitary hormone deficiencies, low muscle mass and cognitive impairment. Treatment with recombinant Growth Hormone (GH) has beneficial effects on body composition, physical performance, cognition, psychomotor development, respiratory function, and quality of life of patients with PWS. GH treatment has a narrow therapeutic range. Clinicians measure serum immunoreactive Insulin-like Growth Fa...