growth and genetics Flashcards
which mutations cause hypochondroplasia?
activating mutations in FGFR3 gene
what can hypochondroplasia cause?
temporal lobe epilepsy
what is hypochondroplasna?
a form of skeletal dysplasia (less severe than achondroplasia)
form of short limbed dwarfism
what are the features of russell-silver syndrome?
elfin features
refusal to eat
poor weight gain
failure to thrive
what causes russell-silver syndrome?
gene methylation
(gene cant be switched on)
what does methylation cause?
prevents transcription
what are the treatment options for russell-silver syndrome?
growth hormones
when can growth hormone be used?
small for gestational age and no catch up growth by the age of 4
eg turner syndrome
growth hormone deficiency
russell-silver syndrome
prader-willi syndrome
why is growth hormone given in prader-willi syndrome?
prevents T2 diabetes and improves muscle tone
how is growth hormone levels measured?
by measuring IGF1 release from the liver
what are the consequences of a ringed X chromosome
a complex turner syndrome
how is a ringed X chromosome treated?
growth hormone
puberty induction
heavily monitored for renal, cardiac and thyroid issues
