Leopard syndrome laboratory findings: Difference between revisions
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Hormonal abnormalities may be revealed in some patients with endocrine system involvement. | Hormonal abnormalities may be revealed in some patients with endocrine system involvement. | ||
==Laboratory Findings== | ==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 [[c-Raf|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 [[Neurofibromatosis type I|NF1]], following evaluation of the mother.<ref>{{cite journal |author=Digilio MC, Sarkozy A, de Zorzi A, ''et al'' |title=LEOPARD syndrome: clinical diagnosis in the first year of life |journal=Am. J. Med. Genet. A |volume=140 |issue=7 |pages=740–6 |year=2006 |pmid=16523510 |doi=10.1002/ajmg.a.31156}}</ref> | |||
There are 5 identified [[alleles|allelic]] [[Genetic diversity|variant]]s 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. | 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. | ||
Revision as of 05:55, 8 September 2013
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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.