congenital leptin deficiency

info · Syndrome

A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1.

Signs and symptoms

Polyphagia
Decreased serum leptin
Obesity
Micropenis
Gynecomastia
Recurrent pneumonia
Decreased testicular size
Recurrent upper respiratory tract infections
Hypogonadism
Primary amenorrhea

Also known as: LEPD; leptin deficiency or dysfunction; obesity due to congenital leptin deficiency