Searchable abstracts of presentations at key conferences in endocrinology

ea0020p45 | Adrenal | ECE2009

Long-term follow-up of a 46XX patient with congenital lipoid adrenal hyperplasia due to a new mutation of the steroidogenic acute regulatory protein gene

Albarel Frederique , Simonin Gilbert , Morel Yves , Brue Thierry , Reynaud Rachel

Congenital lipoid adrenal hyperplasia (CLAH) is a severe disorder characterized by early impairment of both adrenal and gonadal steroidogenesis, leading to early adrenal failure and male sex reversal. The most common aetiology of CLAH is mutation of Steroidogenic acute regulatory protein (StAR) gene.Objective: We report evolution over 20 years of a 46XX patient harbouring a novel StAR gene mutation.Methods: Clinical, hormonal and i...

ea0063oc7.4 | Endocrine Connections 1 | ECE2019

Non-invasive detection of GNAS mutations causing McCune-Albright Syndrome with ddPCR on whole blood or circulating DNA

Romanet Pauline , Philibert Pascal , Fina Frederic , Cuny Thomas , Reynaud Rachel , Paris Francoise , Barlier Anne

Context: Postzygotic activating mutations in GNAS are responsive for fibrous dysplasia (FD) and McCune-Albright Syndrome (MAS). MAS is a rare disease associating fibrous dysplasia, to skin pigmentation and endocrine disorders. The classic genetic non-invasive methods are insufficiently sensitive to detect GNAS mutation, due to a low level of mosaicism in blood. Early diagnostic should allow a follow-up and a therapeutic choice adapted to the MAS context in or...

ea0063p1017 | Interdisciplinary Endocrinology 2 | ECE2019

Diagnosis announcement procedure in rare endocrine diseases: a survey of the French National Healthcare Network for Rare Endocrine Diseases (FIRENDO)

Layachi-Rahabi Haifa , Givony Maria , Demaret Beatrice , Brun Philippe , Aubron Marie-Reine , Bartes Beate , Bernard Lucie , Victor Amelie , Dujardin Veronique , Lancon Catherine , Perrotin Benedicte , Picard Virginie , Bouazza Naim , Abdoul Hendy , Malivoir Sabine , Ribeiro Murielle , Netchine Irene , Drui Delphine , Reynaud Rachel , Tardy Guidollet Veronique , Bertherat Jerome , Colin Claudine , Brue Thierry

Context: Diagnosis announcement of a chronic disease is a crucial moment for patients as well as for their families and an important step of the management of severe conditions like rare endocrine diseases. It is considered as an ‘eternal minute’, marking the end of a time of life when the disease was absent. Little is known on how diagnosis is communicated to patients and families. FIRENDO as defined by the National Plan for Rare Diseases aims at promoting education...