Leopard syndrome laboratory findings: Difference between revisions
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==Overview== | ==Overview== | ||
Hormonal abnormalities may be revealed in some patients with endocrine system involvement. laboratory studies should include molecular analysis of the [[PTPN11]] and [[c-Raf|RAF1]] genes. | |||
==Laboratory Findings== | ==Laboratory Findings== | ||
Diagnosis of | 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. | |||
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== | ==References== | ||
Latest revision as of 08:54, 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 studies should include molecular analysis of the PTPN11 and RAF1 genes.
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.
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.