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Treatment of cartilage–hair hypoplasia with recombinant human growth hormone
Author(s) -
ObaraMoszynska Monika,
Wielanowska Weronika,
Rojek Aleksandra,
WolnikBrzozowska Danuta,
Niedziela Marek
Publication year - 2013
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12215
Subject(s) - medicine , short stature , endocrinology , recombinant dna , hypoplasia , girl , cartilage , gene , genetics , anatomy , biology
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 .