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LEPTIN RECEPTOR DEFICIENCY

LEPTIN RECEPTOR DEFICIENCY
OBESITY, MORBID, NONSYNDROMIC 2
614963
OMIM = Online Mendelian Inheritance of Men
179494
Leptin receptor
11p31.3
E66.8
rare
autosomal recessive
normal birth weight but rapid weight gain in the first few months of life without mental retardation
Laboratory findings    Estradiol normal/dec (serum)
    Follicle stimulating hormone (FSH) normal/dec (serum)
    Insulin inc (serum)
    Leptin normal/inc (serum)
    Luteinizing hormone (LH) normal/dec (serum)
    Thyroid-stimulating hormone (TSH) inc (serum)
    Thyroxine (T4) dec (serum)
Symptoms    hyperphagia
    hypogonadism
    obesity
    onset, childhood