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Summary
LEPTIN RECEPTOR DEFICIENCY
OBESITY, MORBID, NONSYNDROMIC 2
614963
OMIM = Online Medalian Inheritance of Men
179494
11p31.3
rare
autosomal recessive
normal birth weight but rapid weight gain in the first few months of life without mental retardation
symptoms
hyperphagia
hypogonadism
obesity
laboratory finding
Leptin normal-increasedserum
Follicle stimulating hormone (FSH) normal-decreasedserum
Luteinizing hormone (LH) normal-decreasedserum
Estradiol normal-decreasedserum
Thyroid-stimulating hormone (TSH) increasedserum
Thyroxine (T4) decreasedserum
Literature
Kimura N,et al.Liver transplantation versus conservative treatment for adult-onset type II citrullinemia: our experience and a review of the literatureTransplant Proc4593423-34272013
Woo HI,Park HD, Lee YWMolecular genetics of citrullinemia types I and IIClin Chim Acta43101-82014