case_images: PMC8220084_01
case_images: Modified WHO growth charts* display both case patients. (A) Case patient 1:length for age and weight for age; (B): Case patient 1:BMI for age, (C): Case patient 2:length for age and weight for age, (D): Case patient 2:BMI for age; BLUE ARROW marks the onset of setmelanotide treatment of case patient 1. *Original WHO growth charts were modified due to restrictions of scale and age.
case_images: fendo-12-689387-g002.jpg
case_images: PMC8220084_01_fendo-12-689387-g002.jpg
case_images: f2
case_images: She had normal weight at the age of 4 months ( Figures 2C, D ); at the age of 2.7 years she had an exponential weight gain up to 43 kg (height 111 cm, BMI 34.5 kg/m2, +5.24 SDS) despite multiple dietary counseling.
case_images: Graphic representation of (A) the frequency of first presenting signs or symptoms and (B) the frequency of clinical features.
case_images: fendo-12-689387-g004.jpg
case_images: PMC8220084_01_fendo-12-689387-g004.jpg
case_images: f4
case_images: The summary of presenting symptoms and clinical characteristics is presented in  Figure 4 ; however, the prevalence of characteristics that may appear with time could be underestimated due to the young age of patients having been reported.
case_images: Schematic representation of POMC-derived peptides and genetic variants associated with autosomal recessive POMC deficiency. ACTH, corticotropin; beta-LPT, lipotropin beta; gamma-LPT, lipotropin gamma; alpha-MSH, melanotropin alpha; beta-MSH, melanotropin beta; gamma, MSH, melanotropin gamma; NPP, N-terminal peptide of proopiomelanocortin; SP, signal peptide.
case_images: fendo-12-689387-g005.jpg
case_images: PMC8220084_01_fendo-12-689387-g005.jpg
case_images: f5