Endocrine Abstracts

NC-CAH is diagnosed in pubertal/post-pubertal women because of androgen excess however, the risk of potential adrenal insufficiency is not known, and indication of systematic glucocorticoid replacement therapy is controversial.Design: Prospective controlled clinical study in a tertiary referral center. 20 women with NC-CAH (serum stimulated 17-OHP >10 ng/ml/250 μg, Synacthen) comparatively to matched healthy women, were included if they had not ...

Introduction: Heterozygous mutations in the AIP gene are associated with young-onset pituitary adenomas while homozygous loss of AIP in animal models is lethal. As early diagnosis could lead to better outcomes, family members of AIP mutation-positive patients need follow up. The R304Q variant is commonly described as pathogenic based on clinical assessment. However, it is also present in the general population (minor-allele-frequency (MAF) 0.0007&#15...

ATL1103 is a second generation antisense 20mer intended to inhibit expression of the GH receptor (GHR) gene. Phosphorothioate and 2′-O-methoxyethyl modifications to nucleotides increase its plasma half-life and affinity for the target RNA to allow post-hybridization RNaseH degradation. We previously reported a phase 2, randomised, open-label, parallel group study of ATL1103 in 26 patients with acromegaly which demonstrated a fall in serum IGF-I of 26% with 200 mg twice w...

ATL1103 is a second generation antisense oligomer directed at the GH receptor. It is a 20mer with a phosphorothioate backbone and 2′-O-methoxyethyl modifications of the five nucleotides at either end intended to increase its plasma half-life and affinity for the target RNA to allow post-hybridization RNaseH degradation. We report a phase 2 randomised, open-label, parallel group study of subcutaneously administered ATL1103 in patients with active acromegaly. Appr...

The Liège Acromegaly Survey is a cross-sectional study on acromegalic patients, developed as an in-house tool in Liège, then extended to other Europeans participating centers. The database differentiates itself from national and multinational registries by adopting a goal oriented approach and it was conceived following a list of open questions on acromegaly. After an initial test run in Liège, the database installation started on mid-March 2010. Thirteen other ...

Context: Ectopic GHRH secretion is a rare cause of acromegaly described mainly in isolated case reports.Setting: From the registry of the sole laboratory performing plasma GHRH assays in France, we identified cases of ectopic GHRH secretion presenting with acromegaly between 1983 and 2008.Patients: In total, 21 patients aged 14–77 years, from 12 French hospitals. Median GHRH was 548 ng/l (270–9779)....

The European Registry on Cushing’s syndrome (ERCUSYN) is designed to collect prospective and follow-up data at EU level on patients with Cushing’s syndrome (CS). Baseline data on 481 CS patients (390 females, 91 males; mean age (±S.D.): 44±14 years) collected from 36 centres in 23 countries. This cohort included new patients since 2008 and retrospective cases since 2005. Patients were divided into four major etiologic groups: pituitary-depend...

Introduction: Mitotane and platinum-based chemotherapy are the main therapeutic choices for treating inoperable and/or metastatic adrenocortical carcinoma (ACC).Objective: To search for prognostic parameters of survival in patients with metastatic ACC treated with combined mitotane- and platinum-based chemotherapy.Patients: One hundred and thirty one consecutive patients with metastatic ACC treated at the Gustave-Roussy Institute (...

Background: Osilodrostat is a potent oral inhibitor of the adrenal enzymes aldosterone synthase and 11b-hydroxylase and decreases glucocorticoid and mineralocorticoid production and secretion. Phase 2 and 3 studies from the osilodrostat clinical trial programme have demonstrated the drug’s efficacy and safety in patients with Cushing’s disease. Osilodrostat received European Marketing Authorization (MA) for the treatment of Cushing’s syndrome (CS) in adults....

Introduction and rationale: Cushing’s syndrome (CS) is a rare disease with hypercortisolism caused either by ACTH excess from a pituitary or non-pituitary tumor or by an ACTH-independent primary adrenal overproduction of cortisol. It is associated with significant comorbidities potentially lethal: hypertension, diabetes, coagulopathy, cardiovascular disease, infections, and osteoporotic fractures. It is usually managed by surgery and/or medical treatment with steroidogene...