Graded A+ 2025/2026
FTO gene - Fat mass and obesity associated gene region first locus unequivocally
associated with adiposity- higher BMI/total weight (chromosome 16 q12.2)
Only chromosome that does not show obesity loci? - Y chromosome
Most common syndromal cause of obesity? - Prader Willi Syndrome
Autosomal dominant 1/25000
Hypotonia, short stature, hyperphagia
Prader-Willi Syndrome - Most common syndromal cause of obesity
Autosomal dominant
1/25,000
Hypotonia, short stature, hyperphagia
Most common obesity syndrome - MC4R syndrome
1/2000
LEP deficiency - Gene: LEP
Hypogonadism
frequent infections
undetectable serum leptin
LEPR deficiency - LEPR Gene
Hypogonadism
POMC deficiency - POMC gene
Hypopigmentation
Isolated ACTH deficiency
PCSK1/3 deficiency - PCSK1 gene
Postprandial hypoglycemia
Hypogonadism
Elevated plasma pro insulin
Elevated 32-33 split proinsulin
MC4R deficiency - MC4R gene
Melanocortin 4 receptor
Accelerated growth
Increased final height
BDNf deficiency - BDNF gene
Development delay
Hyperactivity
, Impaired memory
Impaired pain sensation
TrkB deficiency - NTRK2 gene
Development delay
Hyperactivity
Impaired memory
Impaired pain sensation
S1M1 deficiency - S1M1 gene
Spectrum of development delay
BBS deficiency - BBS1-16 gene
Polydactyly
Retinal dystrophy
Hypogonadism
Renal abnormalities
Developmental delay
Alstrom Syndrome - ALMS-1 gene
Photophobia
Nystagmus
Visual impairment
Deafness
Severe insulin resistance
Can have high triglycerides
AHD - GNAS1
Short stature
Skeletal defects
Hormone resistance
Short stature
Skeletal defects
Hormone resistance - AHD deficiency
Photophobia
Nystagmus
Visual impairment
Deafness
Severe insulin resistance - Alstrom syndrome
Polydactyly
Retinal dystrophy
Hypogonadism
Renal abnormalities