Diagnostic and therapeutic odyssey of two patients with compound heterozygous leptin receptor deficiency.
Stefanie ZornJulia von SchnurbeinKatja KohlsdorfChristian DenzerMartin WabitschPublished in: Molecular and cellular pediatrics (2020)
Our case report illustrates the urgent necessity of early genetic diagnostics in children with severe early-onset obesity to avoid frustrating and potentially damaging therapies. Thus, genetic examination should precede bariatric surgery. In the future, several pharmacological therapies will be available for some forms of monogenetic obesity.