Endocrine Abstracts

Introduction and Objective: Adult craniopharyngioma as a rare neoplasm of the central nervous system is still very poorly understood. The clinical implications for affected patients are numerous, ranging from endocrine dysfunction to visual loss and neurological impairment. Although the progress of this tumor entity is slow by nature, affected patients often suffer from multiple symptoms even after successful treatment with a strong impact on their individual quality of life. ...

Chronic exposure to hypercortisolism significantly impacts on patient’s health and health-related quality of life (HRQoL). We developed a disease-generated questio-nnaire to evaluate HRQoL in Cushing’s syndrome (CS) (CushingQoL); in 125 (104 females) patients recruited in Spain, France, Germany, The Netherlands and Italy, clinical and hormonal data were collected and correlated with results of the generic SF-36 questionnaire, a question on self-perceived general heal...

Chronic exposure to hypercortisolism has a significant impact on patient’s health and Health-Related Quality of Life (HRQoL), as demonstrated with generic questionnaires. Objective: Develop and validate a disease-generated questionnaire to evaluate HRQoL in patients with Cushing’s syndrome-CS- (Cushing QoL). Methods: After a literature review, interviews with expert endocrinologists and 10 patients identified HRQoL domains and clinical aspects of the disease; an anal...

We have recently reported that somatic mutations in the ubiquitin-specific protease 8 (USP8) are present in corticotropinomas of patients with Cushing’s disease and that these mutations reduced the interaction with 14-3-3. Mutant USP8 exhibited higher deubiquitination activity and potentiated EGFR-induced POMC expression (Reincke et al., Nat Genet 2014). To further study the prevalence of these mutations, we have analyzed 134 ACTH-producing corticotropin...

Introduction: Cushing’s disease (CD) is caused by pituitary tumors hypersecreting adrenocorticotropin (ACTH). Until now somatic mutations in the 14-3-3 binding domain of Ubiquitin Specific Peptidase 8 gene (USP8) were the only recurring, driver mutations and were described in about 40% of the 446 CD samples that have been analysed wordwide. We wanted to assess if other driver mutations might be the pathogenetic cause of CD in those tumors without USP8 mu...