Endocrine Abstracts

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...

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...