Endocrine Abstracts

17α-hydroxyprogesterone (17OHP) is currently used as a diagnostic parameter in children and young adults when a milder form of congenital adrenal hyperplasia (CAH, late-onset) is suspected. A basal serum level of 17OHP (2 ng/ml; 6.0 nmol/l, respectively) has been discussed as cut-off for suspected late-onset disease. We analysed 17OHP in a cohort of children and adolescents without CAH and in confirmed CAH patients to define reference ranges for these age...

Context: Identification of risk factors predicting relapse in patients with hyperthyroidism of Graves’ disease after the first cycle with standard thyreostatic therapy [ATD] is important to guide therapeutic options.Objective: We performed a systematic review and meta-analysis to study predictors for risk of relapse after the first treatment episode with ATD in patients with Graves’ disease induced hyperthyroidism.Data so...

Introduction: Pituicytoma is a rare neoplasm of the sellar region, believed to originate from neurohypophyseal cells. Tumor resection is the primary treatment option, but may remain incomplete due to excessive bleeding of the well vascluarized tumor stroma. Therefore the search for alternative or additional treatment regimens is necessary. In a previous publication in 2012 the presence of VEGF-R was shown in one tumor sample, potentially opening the door for modern treatment o...

Introduction: Although biochemical markers of acromegaly disease activity, including GH and IGF1, may fluctuate from day-to-day, biochemical treatment response in clinical trials is generally monitored using single-point analyses. Accordingly, longitudinal evaluations may assess patient status more accurately. In a phase 3 trial, oral octreotide capsules (OOC) demonstrated sustained composite endpoint GH and IGF1 response for ≤13 months in 151 patients with acromegaly pr...

Background: Adult GH deficiency (GHD) is diagnosed by provocative testing of GH secretion. To improve diagnostic accuracy of GHRH plus arginine (GARG) testing, we evaluated the influence of age, BMI, and sex. Furthermore, we aimed to established normative data for an automatic immunoassay specifically measuring 22kD human GH.Methods: Eighty-seven patients with hypothalamic-pituitary disease and 200 healthy controls were enrolled. Controls were prospectiv...

Background: There are differences in the development of diabetic nephropathy (DN) between men and women but the underlying molecular mechanisms are unknown. The urinary proteome may contain sex-specific biomarkers and thereby identify differentially regulated pathways to DN in men and women.Method: Urine samples were obtained from 157 patients with type 2 diabetes (age, 61 (29–71) years; 120 men and 37 women), preserved renal function (eGFR, 88 &#17...

Idiopathic intracranial hypertension (IIH) is characterised by raised intracranial pressure (ICP) and papilloedema, diagnosed primarily in obese women of reproductive age, with the incidence rising with the global epidemic of obesity. Weight-loss lowers ICP and treats IIH. No mechanism explains the link between obesity and raised ICP. We hypothesise that adipose tissue from IIH patients has a metabolically distinct profile that contributes to raised ICP. Our previous data demo...

Recent guidelines indicate that pregnant women with subclinical hypothyroidism (SCH, TSH above the pregnancy-related reference range where available, or ≧2.5 mU/l) should be treated with thyroxine. We aimed to determine the frequency of overt hypothyroidism (OH; TSH>5 mU/l) and SCH (TSH >2.5 but <5 mU/l) in pregnancy, and to examine how many are diagnosed with thyroid problems after pregnancy. Four thousand three hundred women were recruited between 2007 and...

Background: Anti-Müllerian hormone (AMH) has a positive linear relationship to antral follicle count (AFC) in healthy women. However, studies of intra-follicular AMH-levels indicate a non-linear relation to AFC. It is speculated whether high AMH in polycystic ovary syndrome (PCOS) women is due to overactive follicles rather than directly reflect AFC.Study design: We used data from a previous case–control study, including 262 women with prior te...

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is encoded by the CYP21A2 gene. The CYP21A2 gene is partially overlapped by the TNXB gene encoding an extracellular matrix protein called Tenascin-X. Deficiency of Tenascin X can cause the Ehlers-Danlos Syndrome (EDS). Deletions of CYP21A2 extending into TNXB rarely cause CAH combined with EDS. CAH associated with mild hypermobility form of EDS due to TNXB haploinsufficiency caused by heterozygous mutation h...