RESUMEN
Patients with monogenic obesity display numerous medical features on top of hyperphagic obesity, but no study to date has provided an exhaustive description of their semiology. Two reviewers independently conducted a systematic review of MEDLINE, Embase, and Web of Science Core Collection databases from inception to January 2022 to identify studies that described symptoms of patients carrying pathogenic mutations in at least one of eight monogenic obesity genes (ADCY3, LEP, LEPR, MC3R, MC4R, MRAP2, PCSK1, and POMC). Of 5207 identified references, 269 were deemed eligible after title and abstract screening, full-text reading, and risk of bias and quality assessment. Data extraction included mutation spectrum and mode of inheritance, clinical presentation (e.g., anthropometry, energy intake and eating behaviors, digestive function, puberty and fertility, cognitive features, infectious diseases, morphological characteristics, chronic respiratory disease, and cardiovascular disease), biological characteristics (metabolic profile, endocrinology, hematology), radiological features, and treatments. The review provides an exhaustive description of mandatory, non-mandatory, and unique symptoms in heterozygous and homozygous carriers of mutation in eight monogenic obesity genes. This information is critical to help clinicians to orient genetic testing in subsets of patients with suspected monogenic obesity and provide actionable treatments (e.g., recombinant leptin and MC4R agonist).
RESUMEN
BACKGROUNDS: Childhood obesity is a real public health concern because of its association with a higher risk of adulthood obesity and comorbidities (metabolic, cardiovascular, etc.). The factors associated with the effectiveness of care are poorly described. The objective of this study was to identify factors associated with body mass index (BMI) variation in the management of childhood obesity. MATERIAL AND METHODS: Children followed up for obesity in the Pediatric Endocrinology Department of the University Children Hospital of Nancy were included. Data were retrospectively collected in medical files. The characteristics of patients with a decrease in BMI (in standard deviation score, SDS) were compared with patients with an increased BMI (SDS)after 1 year of follow-up through univariate analysis. RESULTS: Overall, 141 patients were included, and for 107 patients (55 girls and 52 boys) there were 1-year follow-up data. The mean BMI variation after 1 year of follow-up was-0.068 SD and for 63 patients (58.9%) there was a decrease in BMI SDS. Female patients (66% vs. 41%, p=0.012), hypercholesterolemia (33% vs. 4%, p=0.049), and type 1 diabetes (14% vs. 2%, p=0.019) were more frequent in patients with an unfavorable evolution of BMI SDS at 1 year. A family history of bariatric surgery (36% vs. 11%, p=0.042) or eating behavior disorders (76% vs. 24% of patients; p<0.001) or diabetes (1st or 2nd degree;81% vs. 60%, p=0.044) were also more frequent in children with an unfavorable evolution of BMI SDS at 1 year. CONCLUSION: Several negative factors in the evolution of BMI were identified such as female sex, hypercholesterolemia, family history of bariatric surgery, or eating behavior. Early identification of these patients at risk of failure of obesity management is important to control BMI during childhood.