A National Multicenter Study of Leptin (LEP) and Leptin Receptor (LEPR) Deficiency and Systematic Review.

Özge Besci Sevde Nur Firat Samim Özen Semra Cetinkaya Leyla Akın Yılmaz Kor Zafer Pekkolay Şervan Özalkak Elif Özsu Senay Savas Erdeve Şükran Poyrazoğlu Merih Berberoğlu Hasan Murat Aydın Tulay Omma Barış Akıncı Korcan Demir Elif Arioglu Oral

Published in: The Journal of clinical endocrinology and metabolism (2023)

Frameshift variants were more common in patients with LEP deficiency whereas missense variants were more common in LEPR deficiency. Patients with LEP deficiency were identified at younger ages, had higher BMI SD scores, and had higher rates of hyperinsulinemia than patients with LEPR deficiency. Eleven patients benefited from long-term metreleptin, with one losing efficacy due to neutralizing antibodies.

Keyphrases

systematic review
replacement therapy
end stage renal disease
copy number
newly diagnosed
ejection fraction
gene expression
prognostic factors
peritoneal dialysis
randomized controlled trial
quality improvement
smoking cessation
autism spectrum disorder
weight loss