Archives
EndoERN patient survey on their perception of health care experience and of unmet needs for rare endocrine diseases
Patients’ perceptions on quality of care and gaps in diagnosis/management of rare endocrine diseases (RED) were collected in a 21-item questionnaire, answered on-line in the patients’ language. There were 598 (66% females) responses from 29 countries reflecting pituitary, adrenal, thyroid, parathyroid, gonadal, genetic and autoimmune diseases. While in 36% a diagnosis was made in <1 year, in 28% it took >5 years. In 64% it took 2–7 professionals for a correct diagnosis, after which in >50% a specialist/specific treatment was available within 1 month; 60% were satisfied with current treatment. Most (59–67%) would have liked access to psychological support, social [...]
New genetics in congenital hypothyroidism
Patient’s view on better care
Rare endocrine disease: Still a long and a winding road
I’m very proud to welcome you to this special issue of Endocrine dedicated to rare endocrinological conditions. It marks the 2021 recurrence of RARE DISEASE DAY, which takes place every year on the last day of February 28th. The primary goal of this world-wide initiative is to heighten awareness in our societies of the existence of rare diseases and the impact they have on the individuals living with them and their families. Heightened awareness and understanding not only among the general public but also among policy makers, public health authorities, industry representatives, researchers, and health professionals.
This year’s RARE DISEASE [...]
New genetics in congenital hypothyrodism
Therapy options for adrenal insufficiency and recommendations for the management of adrenal crisis
Monocarboxylate transporter 8 deficiency: update on clinical characteristics and treatment
Access to patient oriented information—a baseline Endo-ERN survey among patients with rare endocrine disorders
To perform a baseline survey on condition-specific information access among patients/parents/caregivers with rare endocrine disorders (RD) in Europe.
Update on primary bilateral macronodular adrenal hyperplasia (PBMAH)
Primary bilateral macronodular adrenal hyperplasia (PBMAH), characterized by bilateral benign adrenal macronodules (>1 cm) potentially responsible for variable levels of cortisol excess, is a rare and heterogeneous disease. However, its frequency increases due to incidentally diagnosed cases on abdominal imaging carried out for reasons other than suspected adrenal disease. Mostly isolated, it can also be associated with dominantly inherited genetic conditions in rare cases. Considering the bilateral nature of adrenal involvement and the description of familial cases, the search of a genetic predisposition has led to the identification of germline heterozygous inactivating mutations of the putative tumor suppressor gene ARMC5, causing [...]
