Growth hormone deficiency in one of two siblings with Fanconi's anaemia complementation group FA-D

Fanconi's anaemia (FA) shows great variability in phenotypic symptoms. We r eport on two FA siblings of German ancestry with the very rare form of the complementation group FA-D. Both presented with a similar phenotype and mil d disease severity but with different growth. In the sister, growth velocit y was normal, puberty and menarche occurred spontaneously. Her final height was within her parental target height. The younger brother had a reduced g rowth velocity, height SDS values below -5.5 SDS, a markedly retarded bone age, and delayed puberty. At the age of 12.9 years, growth hormone deficien cy (GHD) was diagnosed and treatment with growth hormone was initiated. Our cases emphasize the heterogeneity of symptoms in FA even in siblings with the same genotype. In FA-children with severe growth retardation, GHD must also be considered. (C) 2000 Harcourt Publishers Ltd.