Searchable abstracts of presentations at key conferences in endocrinology

ea0081p513 | Late-Breaking | ECE2022

The first reported pregnancy and birth by a patient affected by Alström Syndrome: a case report

Marozio Luca , Bertschy Gianluca , Canuto Emilie M. , Maffei Pietro , Milan Gabriella , Dassie Francesca , Cosma Stefano , Benedetto Chiara

Background: Alström Syndrome (ALMS, OMIM 203800) is an ultra-rare disease caused by autosomal recessive mutations of the ALMS1 gene (2p13). ALMS is characterized by double sensory impairment and systemic comorbidities, including hyperandrogenism in female patients. Fertility issue and conception have not been systematically studied.Case: This case report describes the pregnancy and birth by an ALMS patient with mild phenotype, characterized...

ea0063p597 | Diabetes, Obesity and Metabolism 2 | ECE2019

A new neurocognitive phenotype in Alstrom sindrome

Lorusso Riccardina , Dassie Francesca , Benavides-Varela Silvia , Milan Gabriella , Favaretto Francesca , Vettor Roberto , Semenza Carlo , Maffei Pietro

Background: Alstrom syndrome (AS; OMIM#203800) is a rare (<1:100.000) autosomal recessive monogenic ciliopathy and it is caused by mutations in ALMS1 (chromosome 2p13), which function is still unknown. AS is characterized by multisystemic fibrosis, cone-rod retinal dystrophy leading to blindness, hearing loss, obesity, type 2 diabetes mellitus (T2DM), dilated cardiomyopathy, and progressive hepatic and renal failure. Most patients present neurological issue on developmenta...