Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Leopard syndrome laboratory findings
Introduction
Overview
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
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.
References
References
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohamed Moubarak, M.D. [2]