Endocrine Abstracts

Background and purpose: Type 1 myotonic dystrophy (MD), associates neuromuscular, cardiac, respiratory and endocrine disorders. The aim of this study was to determine the prevalence of thyroid disorders and of any causal factors.Methods: A retrospective single centre study was conducted, between 2000 and 2016, in 127 MD patients, diagnosed by familial genetic screening after informed consent. Clinical examination, TSH assay, 120-min glucose and insulin l...

The aim of this retrospective study was to compare the long-term evolution of adrenal insufficiency (AI) due to bilateral adrenal surgery (S) or medical cause (M).Seventy AI patients (mean age 41±16 years; 60% female, similar in both groups) were followed during a mean 6-year period (2–16); 38 were AI after bilateral adrenalectomy (60% Cushing), 32 AI of medical origin (62% polyglandular autoimmune syndrome). BMI, blood pressure (BP), fasting b...

Aggressive adreno-cortical carcinoma (ACC) is a rare, aggressive malignancy, with poorly understood molecular pathogenesis. As a result, therapeutic options are currently limited, surgery being currently the lone curative modality. Most cases of ACC are sporadic, although some familial cancer syndromes (Li–Fraumeni, Beckwith–Wiedemann, MEN1, Carney complex, congenital adrenal hyperplasia, etc.) are associated with an increased incidence of ACC. The genes involved in ...