Investigating familial endocrine neoplasia syndromes in children.
Familial endocrine neoplasia syndromes multiple endocrine neoplasia (MEN) type 1, MEN type 2 and von Hippel Lindau (VHL) can now be diagnosed genetically in childhood. Paediatric endocrinologists must therefore be prepared to investigate and manage these children. This paper provides an overview of the major features of these syndromes and suggests protocols for regular screening of children known to be at risk of developing these disorders.
Johnston
L B
LB
St Bartholomew's Hospital, London, UK. l.b.johnston@mds.qmw.ac.uk
Chew
S L
SL
Lowe
D
D
Reznek
R
R
Monson
J P
JP
Savage
M O
MO
D002675:Child, Preschool; D005820:Genetic Testing; D006801:Humans; D018761:Multiple Endocrine Neoplasia Type 1 / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D018813:Multiple Endocrine Neoplasia Type 2a / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D018814:Multiple Endocrine Neoplasia Type 2b / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome; D006623:von Hippel-Lindau Disease / Q000150:complications / Q000175:diagnosis / Q000235:genetics*