In this report, we described pulmonary hypertension (PH) in two patients with growth hormone insensitivity (GHI) who are taking IGF-I(increlex) for along time.
Case 1: 6-year-old male patient who has been followed for 4 years with the diagnosis of GHI. He was admitted to the hospital with the complaints of hypoglycemia and severe short stature (height SDS: −7.4). His physical examination, laboratory findings(GH>40 μg/dl, IGF-IA homozygous mutation on exon 8) confirmed that he had GHI syndrome. He has been taking increlex doses within the range of 120160 μg/kg per day. At the begining of the therapy his ECO examination was normal. Drug dosage was implemented in accordance with growth velocity. Within the 4th year of his therapy, he has developed excercise induced cyanosis. We detected PH on his ECO examination.
Case 2: 12 year-old girl who was admitted to the hospital at the age of 5 for the first time with the severe growth retardation had height SDS −7.8. Her physical examination, laboratory findings (gh>40 ng/ml, IGF-I< 2 ng/ml) and genetic analysis(GHR c.875G>A homozygous mutation on exon 8) confirmed her diagnosis of GHI. At the begining of the therapy her ECO examination showed only minimal mitral insufficiency.She was responding adequately to the treatment and the last height SDS was regressed to −3.5. Within the 4th year of her therapy she had developed adenoid vegetation and ,for this reason she was operated. For the last one year she has developed exercise induced cyanosis and PH was detected on her ECO examination. Those both patients with the same mutation and PH development raise the question of whether this complication is a long-term IGF-I treatment or a late presented genotypephenotype relationship.
22 - 24 Nov 2017
British Society for Paediatric Endocrinology and Diabetes