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Arch Dis Child 50:318-320 doi:10.1136/adc.50.4.318
  • Research Article

Fanconi's aplastic anaemia with short stature. Absence of response to human growth hormone.

Abstract

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.