Endocrine Abstracts

Background: Alstrom syndrome (AS) is a very rare multisystem disorder secondary to mutations in the ALMS1 gene, associated with infantile cardiomyopathy, retinal dystrophy, early onset obesity, and diabetes. Whilst a previous international review, including 35 males, cited pubertal delay and hypogonadism to be common, no detailed characterisation of puberty exists. This retrospective longitudinal analysis aims to describe puberty in boys with AS.<p class="...