Endocrine Abstracts

Isolated growth hormone deficiency (IGHD) type 1a is caused by defects of the GH-I gene resulting in severe short stature. Treatment with growth hormone may become ineffective due to significant production of growth hormone antibodies. However, this has only been reported in patients treated with pituitary derived growth hormone. We present five cases with IGHD type 1a successfully treated with recombinant human growth hormone (rhGH).Five patients from f...

Background: ENPP1 Deficiency is a rare disorder due to inactivating mutations in the ENPP1 gene. It is characterized by low levels of inorganic pyrophosphate (PPi), a critical regulator of mineralization; subsequent pathologic soft tissue calcification results in ~50% infant mortality and life-long musculoskeletal and cardiovascular morbidities. No targeted therapy exists for this disease. INZ-701 is a recombinant ENPP1-Fc investigational product.<p class="abstext...