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 yr 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.