Endocrine Abstracts

Context: Patients with primary bilateral macronodular adrenocortical hyperplasia (PBMAH) usually present with bilateral benign adrenocortical macronodules at imaging and variable levels of cortisol excess. There is anecdotal evidence that, besides cortisol, other adrenal steroids, like mineralocorticoids, can be oversecreted.Objective: To assess the prevalence, clinical, biochemical characteristics and imaging features of aldosterone excess leading to pr...

Background: Cushing’s syndrome (CS) is a rare but very severe condition with high morbidity and mortality. Patients are often diagnosed late in the course of the disease, many years after onset of symptoms. New approaches like extended screening of at risk populations, alternative biomarkers and clinical scores have been developed to improve diagnostic accuracy. However, there is still a debate, whether certain patient populations should be screened for CS outside the fra...

Background: Cyclic Cushing’s syndrome (cCS) is a sub-entity of Cushing’s syndrome (CS) associated with diagnostic and therapeutic challenges. It describes a condition, in which phases of clear-cut biochemical hypercortisolism are followed by spontaneous troughs of normal or subnormal cortisol secretion. We conducted the first systematic literature review to identify common features of cCS.Methods: We searched MEDLINE (via PubMed) for eligible s...

Background: Aldosterone-producing adenomas (APA) are a major cause of primary aldosteronism. Somatic mutations explain the excess aldosterone production in the majority of patients with APA with mutations in the potassium channel KCNJ5 the most prevalent. In contrast, mechanisms driving cell proliferation are largely unresolved.Objective: To identify genes that modulate cell growth in APAs.Methods: Quantitative transcripto...

Corticotrophin-releasing hormone (CRH) stimulation test is used in the differential diagnosis of Cushing’s syndrome. Cushing’s disease tumours carry somatic driver activating mutations in the ubiquitin-specific-protease 8 (USP8) gene in almost half of the cases. The aim of the present study was to examine whether the USP8 mutational status in Cushing’s disease tumours influences the response to the CRH stimulation test. We did a monocentric, re...

Introduction: Mutations activating USP8 have been detected in a high proportion of pituitary adenomas causing Cushing’s disease and have been linked to an increase of ACTH production in corticotroph cells. Whether USP8 mutations are involved in the tumorigenesis of the ectopic Cushing’s syndrome (ECS) caused by neuroendocrine tumors has not been studied.Patients and methods: In this work we evaluate the role of USP8 in a series of 17 t...

Context: Unilateral adrenalectomy is the therapy of first choice in aldosterone producing adenoma (APA). Improvement of blood pressure (BP) and hypokalemia is achieved in the majority of patients. Because of hypoaldosteronism, hyperkalemia can develop in the postoperative course. Our aim was to analyze the frequency of hyperkalemia, to determine the cause of hypoaldosteronism and to assess the influence of preoperative mineralocorticoid antagonist (MRA) therapy at our center.<...

Background: Adrenal crisis (AC) is a life-threatening complication in patients with congenital adrenal hyperplasia due to classical 21-hydroxylase deficiency (21-OHD). AC was defined as an acute state of health impairment which required i.v. glucocorticoid administration and hospital admission. No data on AC over life-time in 21-OHD is available.Study design: In a retrospective study AC was studied following two approaches: a) questionnaire-based: 122 ad...

Background: Cushing’s syndrome is a disease that presents with clear symptoms and causes considerable harm to the body if left untreated, yet often remains undiagnosed for prolonged periods of time. Face-classification software might recognize typical changes of the face and thus aid in diagnosing the disease early as we have previously shown in the classification of acromegaly.Methods: Using a regular compact digital camera, we took frontal and sid...

Acromegaly is accompanied by increased morbidity and mortality. The delay between onset of first symptoms and diagnosis of the disease is 6 to 10 years. Acromegaly causes typical changes of the face. We hypothesized that face classification software might help distinguishing between subjects with and without acromegaly on regular photographs and, thus, might help improving early recognition of acromegaly.Methods: We took frontal and side photographs of t...