Fanconi's aplastic anaemia with short stature. Absence of response to human growth hormone.
A patient with idiopathic marrow hypoplasia associated with short stature and other anomalies (Fanconi's anaemia) is described: treatment with human growth hormone for one year did not accelerate his growth rate or significantly affect his anaemia: androgen treatment considerably improved both features. Endocrine studies suggest that though he had poor and insufficient production of endogenous growth hormone to insulin-induced hypoglycaemia, the major defect in this syndrome is determined more at the end-organ than at the pituitary or gonadal level.
D000741:Anemia, Aplastic / Q000150:complications*; D001772:Blood Cell Count; D001803:Blood Transfusion; D001827:Body Height; D001853:Bone Marrow / Q000473:pathology; D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002900:Chromosomes, Human, 1-3; D002905:Chromosomes, Human, 4-5; D005199:Fanconi Anemia / Q000150:complications*; D006128:Growth / Q000187:drug effects; D006130:Growth Disorders / Q000150:complications* / Q000188:drug therapy; D013006:Growth Hormone / Q000172:deficiency / Q000494:pharmacology* / Q000627:therapeutic use; D006801:Humans; D008297:Male; D010110:Oxymetholone / Q000627:therapeutic use; D010859:Pigmentation Disorders / Q000209:etiology
D013006:Growth Hormone; D010110:Oxymetholone