title: Treatment of cartilage-hair hypoplasia with recombinant human growth hormone.
abstract: Cartilage-hair hypoplasia (CHH) is an autosomal recessive disorder characterized by short stature, hypoplastic hair and humoral immunity disorders. It is a mutation in the RMRP gene, located on chromosome 9p13.3, that leads to CHH. There is no special treatment for short stature in CHH. The efficacy and safety of recombinant human growth hormone (rhGH) therapy in CHH is still under discussion. The present study describes the case of a girl with CHH who was treated with rhGH. The rhGH treatment had a significant effect on the height gain: the height SD score was changed from -4. to -2.98 after 4 years 7 months of treatment. rhGH therapy should be considered as a treatment modality for CHH, and insulin-like growth factor (IGF)-1 and IGF-binding protein 3 concentrations should be closely monitored, particularly because of the increased cancer risk that is a characteristic feature of CHH.
authors: Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland.
authors: Monika
authors: M
authors: Obara-Moszynska
authors: Weronika
authors: W
authors: Wielanowska
authors: Aleksandra
authors: A
authors: Rojek
authors: Danuta
authors: D
authors: Wolnik-Brzozowska
authors: Marek
authors: M
authors: Niedziela
mesh_terms: D002648:Child; D005260:Female; D006197:Hair / Q000002:abnormalities*; D006627:Hirschsprung Disease / Q000188:drug therapy*; D019382:Human Growth Hormone / Q000627:therapeutic use*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000188:drug therapy*; D010009:Osteochondrodysplasias / Q000151:congenital* / Q000188:drug therapy; D000081207:Primary Immunodeficiency Diseases; D011994:Recombinant Proteins / Q000627:therapeutic use
chemical_list: D011994:Recombinant Proteins; D019382:Human Growth Hormone
keywords: bone disease; cartilage-hair hypoplasia; chondrodysplasia; growth hormone; short stature