Leopard syndrome laboratory findings
|
Leopard syndrome Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Leopard syndrome laboratory findings On the Web |
|
American Roentgen Ray Society Images of Leopard syndrome laboratory findings |
|
Risk calculators and risk factors for Leopard syndrome laboratory findings |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohamed Moubarak, M.D. [2]
Overview
Hormonal abnormalities may be revealed in some patients with endocrine system involvement.
Laboratory Findings
Diagnosis of Leopard syndrome is sometimes difficult because of the overlap with Noonan syndrome and neurofibromatosis 1. In these patients, the presence of the disease can be confirmed with a mutation-based diagnosis, laboratory studies should include molecular analysis of the PTPN11 and RAF1 genes. In a study of 10 infants with clinical indications of Leopard syndrome prior to their first birthday, 8 (80%) patients were confirmed to have the suspected mutation. An additional patient, with the suspected mutation was subsequently found to have NF1, following evaluation of the mother.[1] There are 5 identified allelic variants responsible for Leopard syndrome. Which seems to be a unique familial mutation, in that all other variants are caused by transition errors, rather than transversion.
low levels of follicle-stimulating hormone, luteinizing hormone, and thyrotropin and elevated levels of 17-hydroxy and 17-ketosteroids have been detected in some patients with endocrine abnormalities.
References
- ↑ Digilio MC, Sarkozy A, de Zorzi A; et al. (2006). "LEOPARD syndrome: clinical diagnosis in the first year of life". Am. J. Med. Genet. A. 140 (7): 740–6. doi:10.1002/ajmg.a.31156. PMID 16523510.