Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.

摘要: Of the 300 subjects, 8 (3%) had nonsense or missense LEPR mutations — 7 were homozygotes, and 1 was a compound heterozygote. All resulted in impaired receptor signaling. Affected subjects characterized by hyperphagia, severe obesity, alterations immune function, delayed puberty due to hypogonadotropic hypogonadism. Serum leptin levels within range predicted elevated fat mass these subjects. Their clinical features less than those of with congenital deficiency. CONCLUSIONS The prevalence pathogenic cohort severe, earlyonset obesity 3%. Circulating not disproportionately elevated, suggesting that serum cannot be used as marker for leptin-receptor Congenital deficiency should considered differential diagnosis any child hyperphagia absence developmental delay dysmorphism.