Carried by: Defiscience
References:
Clinician(s): Dr Gwenaëlle DIENE, Pr Christine POITOU
Biologist(s): Dr Delphine COLLIN-CHAVAGNAC
Presentation
Genetic diagnosis of severe and early-onset monogenic obesity. Suspicion of a genetic abnormality responsible for dysfunction of the neural networks involved in energy homeostasis control due to dysfunction of the leptin-melanocortin pathway. Alteration of hunger/satiety signals with hyperphagia from early childhood and eating disorders (without major neurodevelopmental disorders, except in well-documented special cases).
Criteria before considering a discussion in MDM-FMG
- Relevant family history
- Parents: Consanguinity: yes/no/unknown/suspected; respective heights
- Family tree (search for other cases of obesity/search for possible mode of transmission)
- BMI and height curve since birth
- Head circumference: search for microcephaly or macrocephaly
- Search for impulsive and/or compulsive eating disorders
- Search for associated symptoms: dysmorphia, short stature, sensory disorders, others, etc.
- Additional biological and endocrine tests: calcium and phosphorus levels, kidney function, hormone levels (T4, TSH, PTH, LH, FSH, testosterone/oestradiol, AMH, inhibin B, IGF1, IGFBP3, prolactin, leptin)
- Access to samples from parents
Genome Sequencing in diagnostic strategy
MDM cartography
MDM
Type of the MDM
City of the coordinator
Name, first name, and email of the contact
MDM PRADORT
National
Toulouse