Skeletal Dysplasia Horm Res 2003;60(suppl 3):65–70 DOI: 10.1159/000074504 Skeletal Dysplasia, Growth Hormone Treatment and Body Proportion: Comparison with Other Syndromic and Non-Syndromic Short Children Lars Hagenäs a Thomas Hertel b a Paediatric Endocrine Unit, Paediatric Clinic, Karolinska Hospital, Stockholm, Sweden; b Department of Paediatrics, Odense University Hospital, Odense, Denmark Dr. Lars Hagenäs Paediatric Endocrine Unit, Paediatric Clinic Karolinska Hospital SE–171 76 Stockholm (Sweden) Tel. +46 8 5177 2367, Fax +46 8 5177 5128 , E-Mail lars.hagenas@kbh.ki.se ABC Fax + 41 61 306 12 34 E-Mail karger@karger.ch www.karger.com © 2003 S. Karger AG, Basel 0301–0163/03/0609–0065$19.50/0 Accessible online at: www.karger.com/hre a Mutated in osteogenesis imperfecta. b Mutated in several different skeletal dysplasias, e.g. achondrogenesis, Kniest dysplasia, spondyloepiphyseal dysplasia congenita and certain Stickler dysplasias. c Mutated in certain multiple epiphyseal dysplasias. d Mutated in metaphyseal dysplasia type Schmid. e Mutated in certain Stickler syndrome variants. f Cartilage oligomeric protein, a calcium-binding matrix protein that is mutated in pseudoachondroplasia and multiple epiphyseal dysplasia. g DTDST, a sulfate transporter necessary for sulfation of proteoglycans, is mutated in diastrophic dysplasia. h FGFR3 is mutated in achondroplasia and hypochondroplasia. i Parathyroid hormone receptor is mutated in metaphyseal dysplasia type Jansen. Key Words Skeletal dysplasia W Achondroplasia W Growth hormone W Body proportion W Growth Abstract Skeletal dysplasias comprise a diverse group of condi- tions that usually compromise both linear growth and body proportions. It is of theoretical interest to evaluate the effect of GH treatment on linear growth, body propor- tion and final height in the different skeletal dysplasias. Reported experience of GH treatment in short children with skeletal dysplasia is sparse and often limited to short treatment periods and knowledge of its effects on final height and body proportion is generally lacking. Formal studies are almost all confined to achondroplasia as the most common entity. First-year response is typically a 2– 3 cm increase in growth velocity in prepubertal children, or a gain of about 0.5 SDS or less in relative height from a baseline level of –4 to –5 SDS. GH treatment for up to 5 years in achondroplasia can produce a total height gain of about 1 SDS. Apart from achondroplasia, treatment of hypochondroplasia and dyschondrosteosis with GH has been reported in a small number of patients. Long-term data are, however, lacking. Of theoretical interest is that in many syndromic or non-syndromic short-statured chil- dren body proportion, i.e. trunk to leg length ratio, does not seem to be dependent on the degree of GH sufficien- cy and does not seem to be changed by GH treatment. GH treatment, at least in the prepubertal period, does seem to influence degree of disproportion. Copyright © 2003 S. Karger AG, Basel Introduction Skeletal dysplasias comprise a large and heterogeneous group of disorders affecting the development of the skele- ton, with more than 200 entities listed in the official inter- national nomenclature [1]. During the last 10 years, the molecular backgrounds of some skeletal dysplasias have been revealed. Thus, mutations have been found for sev- eral categories of proteins as well as for non-translated RNAs. These include different matrix and connective tis- sue molecules, e.g. collagen type I a , II b , IX c , X d , XI e and COMP f , ion transporters like the sulfate transporter DTDST g , receptors like fibroblast growth factor receptor 3 (FGFR3) h , or parathyroid hormone receptor i among others. Downloaded by: Syddansk Universitetsbibliotek 149.126.75.65 - 8/25/2015 7:49:35 AM