Searchable abstracts of presentations at key conferences in endocrinology

ea0049ep1310 | Thyroid (non-cancer) | ECE2017

Relapsing Graves’ hyperthyroidism in a male patient with central hypothyroidism after surgery of craniopharyngioma: case report

Bumbu Anisoara , Abouleka Yawa , Potier Louis , Roussel Ronan , Marre Michel

Introduction: GravesÂ’ disease is an autoimmune thyroiditis, less common in men but with relapse of hyperthyroidism significantly more frequent in men than in women after anti-thyroid medicationsÂ’ withdrawal. Craniopharyngioma is a rare brain tumor which arises in the pituitary stalk and project into the hypothalamus. The distribution by age is bimodal with a slight male predominance and a poor survival rate for older than 65 years. The association of these pathologie...

ea0073aep648 | Thyroid | ECE2021

Case report : A rare case of leucinosis decompensated by hyperthyroidism

Yaker Fetta , Pauline Busiau , Anne-Flore Herrou , yawa Abouleka , Sandrine Gippa , Myriam Dao , Diane Evrard , Ronan Roussel , Louis Potier

Leucinosis also called Maple syrup urine disease (MSUD) is a rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in urine with an evolution to encephalopathy and central respiratory failure if untreated. When diagnosed at birth, treatment is based on nutrition therapy aiming at rapidly reducing of toxic metabolites through dietary restriction, shifting towards and preventing or min...

ea0032p637 | Male reproduction | ECE2013

KISS1R mutations in normosmic congenital hypogonadotropic hypogonadism: clinical evaluation of two families and molecular characterization of a novel mutation

Brioude Frederic , Bouligand Jerome , Francou Bruno , Fagart Jerome , Roussel Ronan , Viengchareun Say , Combettes Laurent , Brailly-Tabard Sylvie , Lombes Marc , Young Jacques , Guiochon-Mantel Anne

Context: KISS1R mutations have been implicated in patients with normosmic congenital hypogonadotropic hypogonadism (nCHH) (OMIM #146110).Objective: To describe in detail nCHH patients with biallelic KISS1R mutations belonging to two unrelated families, and to functionally characterize a novel KISS1R mutation.Results: The p.Tyr313His original mutant was found in the homozygous state in three affected kindr...