title: Growth hormone deficiency in one of two siblings with Fanconi's anaemia complementation group FA-D.
abstract: Fanconi's anaemia (FA) shows great variability in phenotypic symptoms. We report 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 mild disease severity but with different growth. In the sister, growth velocity was normal, puberty and menarche occurred spontaneously. Her final height was within her parental target height. The younger brother had a reduced growth 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 deficiency (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.
authors.affiliation: Division of Pediatric Endocrinology, Hospital for Children and Adolescents, University of Erlangen-Nuremberg, Germany.
authors.forename: E
authors.initials: E
authors.lastname: Schoof
authors.forename: J D
authors.initials: JD
authors.lastname: Beck
authors.forename: H
authors.initials: H
authors.lastname: Joenje
authors.forename: H G
authors.initials: HG
authors.lastname: Doerr
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000365:Age Determination by Skeleton; D005199:Fanconi Anemia / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005816:Genetic Complementation Test; D005858:Germany / Q000208:ethnology; D006130:Growth Disorders / Q000235:genetics*; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009426:Netherlands; D009679:Nuclear Family; D010641:Phenotype; D011628:Puberty, Delayed
chemical_list: D019382:Human Growth Hormone