ey0021.4-4 | Important for Clinical Practice | ESPEYB21
G Muthuvel
, SS Al Remeithi
, C Foley
, A Dauber
, V Hwa
, P Backeljauw
Brief Summary: This case series describes the effect of recombinant human IGF-1 (rhIGF-1) administration on growth of three siblings with STAT5B homozygous recessive mutations.The peripheral effects of GH are primarily mediated by IGF-I through the activation of the GH receptor (GHR)-signal transducer and activator of transcription (STAT)-5B signaling. Patients carrying STAT5B mutations have severe postnatal growth failure and IGF-I deficiency a...