ESPE Abstracts

Objectives: We describe an unusual presentation of Histiocytosis in a 17 year old female with a large lung mass, and bilateral adrenal masses.Methods: Case reportResults: A 17-year-old female presented with chest pain, as well as several weeks history of fatigue, decreased appetite, a dry cough and unintentional weight loss. No history of fevers or night sweats. Her vital signs and...

Background: Pathologic mutations in RAI1 gene (typically microdeletions) cause SMS. Patients have characteristic physical appearance, developmental delay, sleep disturbances, and obesity; without hypothalamic dysfunction. Thaker et al published a case of a child with clinical diagnosis of ROHHAD with a mutation in the RAI1 gene (c.3265C>T: p.R1089X) found by whole exome sequencing. He had a physical appearance consistent with SMS and sleep cycle di...

Background: Leptin receptor (LepR) deficiency is an autosomal-recessive rare condition causing early-onset severe obesity, hyperphagia, hypogonadotropic hypogonadism (HH), hypothyroidism, and/or growth hormone deficiency (GHD). Cohen syndrome is a variable autosomal recessive genetic disease caused by mutations in the VPS13B gene causing central obesity, characteristic facial features, hypotonia, non-progressive intellectual deficit, neutropenia,...