Endocrine Abstracts

Background: Primary Adrenal Insufficiency (PAI) is a rare life-threatening disorder. Data on etiology and outcome of PAI in childhood are scanty, with the exception of Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD). The aim of our study is to evaluate etiology, morbidity and long-term outcome of PAI in a large cohort of children and characterize clinical presentation in subjects with PAI not due to 21OHD CAH.Material and me...

Background: Primary adrenal insufficiency (PAI) can be of autoimmune origin (Addison’s disease, AD) or due to inborn disorders of steroidogenesis (congenital adrenal hyperplasia, CAH). Prognosis of patients with PAI has improved considerably after glucocorticoid replacement therapy became available. However, even in recent years, an increased risk of death has been described in both AD and CAH patients. Moreover, even with the current state-of-the-art replacement therapy,...

Background: Despite adequate glucocorticoid (GC) and mineralocorticoid (MC) replacement therapy, primary adrenal insufficiency (AI) is associated with an increased mortality, mainly due to cardiovascular disease. The role of MC replacement is not known. Therefore we assessed whether renin concentrations during routine GC and MC substitution therapy are associated with cardiac function and morphology.Methods: 17 patients with AI underwent magnetic resonan...

Background and aims: Recommendations for the management of pregnancies in patients with adrenal insufficiency (AI) are scarce. The aim of this study was to analyse current clinical approaches in seventeen specialized centers across Europe with a particular focus on maternal and fetal outcome.Patients: 95 pregnancies in 86 patients with AI of different aetiology [Addison’s disease (n=37), secondary AI (n=22), congenital adrenal hype...

Several cases of pneumocystosis developing after lowering cortisol serum level have been reported, mostly in patients with ectopic Cushing’s syndrome. We report here 2 cases of pneumocystosis which developed after initiation of treatment with metyrapone, one in a patient with Cushing’s disease, and the second in a patient with ectopic ACTH secretion by a prostate endocrine carcinoma. Both cases presented severe Cushing’s syndrome. We then analyzed the periodic s...

Background and aim: Aldosterone-to-Renin Ratio (ARR) is recommended as initial test to screen for Primary Aldosteronism (PA), especially in high-risk hypertensive population. Endocrine Society (ES) Guidelines recommend that patients with an increased ARR should undergo one or more confirmatory tests in order to confirm or exclude PA diagnosis. Captopril Challenge Test (CCT) and Saline Infusion Test (SIT) are commonly used in routine clinical practice. The aim of our study was ...

Background: Conventional treatment (cortisone acetate or hydrocortisone) of adrenal insufficiency (AI) is potentially associated with glycometabolic alterations, bone loss and reduced quality of life. There is an increasing evidence of a more physiological replacement therapy with modified-release hydrocortisone (Plenadren).AimThe objectives of our study were: 1) to compare the gene expression profile of patients under conventional treatment and Plenadren versus healthy contro...

Introduction & Objectives: A laparoscopic radical adrenalectomy is the standard treatment option for unilateral primary aldosteronism. Partial adrenalectomy for solitary adenomas has been suggested to be feasible and adrenal cortex-sparing. However, solitary adenomas may be rare. The purpose of this study was to assess whether partial adrenalectomy in patients with a seemingly solitary adenoma might be worthwhile by relating perioperative imaging to pathologic findings of ...

Background: The cure of unilateral primary aldosteronism (PA) after adrenalectomy can result in complete, partial or absent biochemical and clinical improvement1. Histological findings from HE samples are of little assistance in determining if adenoma or hyperplastic adrenal tissue is hormonally overactive. Our aim in the present study was to compare immunohistochemical (IHC) CYP11B1 and CYP11B2 staining in adrenal slices to histological diagnosis based on H&E s...

Introduction: Adrenal Insufficiency (AI) is characterized by absolute or relative deficiency of glucocorticoids and adrenal androgen precursors. Patients with AI show an impaired quality of life, metabolic status, immune function and dysregulated circadian genes. Data on sexual function are scarce and often contradictory. The aims of the present study are to evaluate sexual dysfunction (SD) in women and men patients with AI and to investigate the effects of restoring a more ph...

Background: Adrenal insufficiency (AI) results from deficient production/action of glucocorticoids (GCs), with or without deficiency of mineralocorticoids (MC) and adrenal androgens. GC treatment is essential but some patient needs MC therapy to allow sodium(Na+) retention, potassium(K+) excretion and to maintain normal plasma volume and blood pressure. Much attention has focused on optimization of GC replacement but no consensus exists for optimization o...

Introduction: Primary aldosteronism (PA) is a major cause of secondary hypertension. The two major forms of sporadic PA (aldosterone producing adenoma – APA and bilateral adrenal hyperplasia – BAH) can only be reliably differentiated by adrenal venous sampling (AVS). Several mutations have been described for APA, but the pathogenesis of BAH is poorly elucidated. Differentiation of APA and BAH is clinically pivotal, as their treatment is different. There is no blood-b...

Objective: Primary aldosteronism (PA) is the first cause of endocrine hypertension accounting for about 6% of all cases of hypertension. According to international guidelines, PA screening is based on plasma aldosterone-to-renin concentration ratio (ARR) computation. Nevertheless, measurement of urine aldosterone excretion may be of interest since it integrates aldosterone secretion over 24 hours. However, available urine aldosterone immuno-assays have poor specificity.<p ...