hrp0082p1-d1-140 | Growth | ESPE2014
Klammt Jurgen
, Neumann David
, Andrew Shayne F
, Drahosova Marcela
, Stobbe Heike
, Buckham Kyle
, Rosenfeld Ron G
, Pfaffle Roland
, Hwa Vivian
Background: GH insensitivity is caused by disturbances of GH receptor function or inability to transduce the hormone signal. Affected children are severely growth retarded and may also present immune complications when the transducer STAT5B is defective. Only autosomal-recessive STAT5B mutations have been described to date.Clinical case: Two male 14.5 year monozygotic twins presented with heights of 131.5 cm (−5.3 SDS). Bone age of the ind...