Searchable abstracts of presentations at key conferences in endocrinology

ea0063p214 | Diabetes, Obesity and Metabolism 1 | ECE2019

Peroxisome proliferator activated receptor gamma mutation responsible for partial lipodystrophy with end stage renal disease: pharmacokinetics of metreleptine during hemodialysis: Clinical case report

Archambeaud Francoise , Vital Pauline , Galinat Sophie , Drutel Anne , Plas Camille , Vantyghem Marie Christine , Vigouroux Corinne

Lipodystrophy is a rare disorder characterised by loss of adipose tissue, severe insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis with hypoleptinemia. Renal complications are also present but end stage renal disease is less frequent in partial lipodystrophy. We report efficacy and pharmacokinetics of metreleptine during hemodialysis in one case of partial lipodystrophy. A caucasian female presented with acute pancreatitis, major hypertriglyceridemia (25 g/...

ea0063ep150 | Thyroid | ECE2019

Mixed histiocytosis with BRAF (V600E) mutation and papillary thyroid carcinoma

Archambeaud Francoise , Vital Pauline , Russ Gilles , Pommepuy Isabelle , Haroche Julien , Valleix Denis , Bourras Jean Charles , Nassouri Sika , Parreau Simon

Langherhans cell histiocytosis (LCH) and Erdheim-Chester (EC) are two histiocytic disorders which occurrence in the same patient has rarely been described. Thyroid involvement of LCH is rare, and concurrent papillary thyroid carcinoma (PTC) exceptionally reported. We report a case of a 73 year old man who presented a diagnosis of mixed histiocytosis LCH and EC. The patient suffered of insipidus diabetes since 1 year without pituitary abnormality but clinical examination showed...

ea0070oc7.1 | Endocrine-related Cancer | ECE2020

Is Carney complex a breast cancer predisposing syndrome? prospective study of 50 women

Vaduva Patricia , Espiard Stéphanie , Jouinot Anne , Vantyghem Marie-Christine , Assié Guillaume , Catherine Cardot-Bauters , Raverot Gerald , Sylvie Hieronimus , Francoise Archambeaud , Hervé Lefebvre , Laure Nunes , Tabarin Antoine , Anne Lienhardt , Groussin Lionel , Guignat Laurence , Fideline Bonnet , North Marie-Odile , Bertherat Jerome

Introduction: Carney Complex (CNC) is a rare genetic syndrome, with multiple endocrine and non-endocrine neoplasia, mostly due to inactivating mutations of the PRKAR1A gene. CNC has a wide spectrum of manifestations : most frequently skin lesions, cardiac myxomas and primary pigmented nodular adrenocortical dysplasia (PPNAD), but also thyroid nodules, schwannomas, breast tumors (mainly myxoid fibroadenomas and ductal adenomas)… The present study was designed to ...