Endocrine Abstracts

Background: FHH is a genetically heterogeneous condition mimicking primary hyperparathyroidism at the difference of low urine calcium excretion. FHH types 1, 2, and 3 are due to loss-of-function mutations of the CASR, GNA11, or AP2S1 genes, respectively. FFH 3, the rarest of the 3, is usually associated to 3 recurrent mutations affecting the arginine residue in position 15. The clinical phenotype has not been well described. We report a new case striking by the neurological in...

Background: Lamin A/C mutations show heterogeneous phenotypes expanding from cardiopathies to lipodystrophies. R482-LMNA gene mutation is the hot-spot for familial partial lipodystrophic syndromes (FPLD2) and is characterized by an increase of intra-abdominal (visceral) fat. In contrast, the visceral fat phenotype of non-R482-LMNA mutated patients has not been well studied.Objectives: To compare the fat amount and visceral repartition o...

Introduction: Type 1 diabetes (T1D) and multiple sclerosis (MS) are autoimmune diseases with common immunological mechanisms. Type 1 diabetics have an increased risk of MS. The aim of this work is to report a clinical observation of a partial preservation of β-cell function in a type 1 diabetic patient treated early by Fingolimod for MS.Observation: A polyuro-polydipsic syndrome and a weight loss of 10 kg led to the diagnosis of T1D (typing HLA DR4/...

Background: Lamin A/C mutations show heterogeneous phenotypes expanding from cardiopathies to lipodystrophies. LMNA-related heart disease has recently been shown to be associated with a high incidence of phenotypic progression and adverse arrhythmic and non-arrhythmic events. Anticipatory planning to prevent sudden death has been recommended in a multicentric cardiologic recruitment. Nevertheless the specific cardiac prognosis of R482-LMNA mutated patients, the hot-spot for pa...