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- Title
Aggrecanopathies highlight the need for genetic evaluation of ISS children.
- Authors
Nilsson, Ola
- Abstract
Short stature is one of the most common causes for referrals to pediatric endocrinologists. However, in a majority of the children, no underlying cause can be identified and the child instead receives the unhelpful diagnosis of idiopathic short stature (ISS), often after extensive work-up and testing. Recent advances in genetic methodology have allowed for the identification of a number of different monogenic conditions within the large cohort of ISS children. Isolated short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (MIM#165800) due to heterozygous aggrecan gene mutations exemplifies how this progress is changing the way we assess, counsel and treat children with non-endocrine growth disorders.
- Subjects
SHORT stature; GENETIC mutation; GROWTH disorders; GROWTH of children; PEDIATRIC endocrinology; BONE aging
- Publication
European Journal of Endocrinology, 2020, Vol 183, Issue 2, pC9
- ISSN
0804-4643
- Publication type
Article
- DOI
10.1530/EJE-20-0420