RT Book, Section
A1 Chernausek, Steven D.
A1 Stratakis, Constantine A.
A2 Rudolph, Colin D.
A2 Rudolph, Abraham M.
A2 Lister, George E.
A2 First, Lewis R.
A2 Gershon, Anne A.
SR Print(0)
ID 7054216
T1 Chapter 537. Endocrine Neoplasia Syndromes
T2 Rudolph's Pediatrics, 22e
YR 2011
FD 2011
PB The McGraw-Hill Companies
PP New York, NY
SN 978-0-07-149723-7
LK accesspediatrics.mhmedical.com/content.aspx?aid=7054216
RD 2024/04/20
AB Most  endocrine  tumors  in  children  occur  in  the  context  of  genetic  conditions  predisposing  to  multiple  neoplasias:  multiple  endocrine  neoplasia  types  1  and  2  (MEN-1  and  MEN-2),  Mc-Cune  Albright  syndrome,  Carney  complex,  Von  Hippel-Lindau  (VHL)  disease,  Peutz-Jeghers  syndrome  (PJS),  Cowden  disease  (CD),  hereditary  hyperparathyroidism  and  jaw  tumor  syndrome  (HPJTS),  and  other  extraordinarily  rare  conditions  such  as  the  isolated  paraganglioma  and  Carney-Stratakis  syndromes,  Carney  triad,  Burt-Hogg-Dubé,  and  others.  Therefore,  it  is  now  essential  that  the  evaluation  and  management  of  these  patients  involves  experts  in  cancer  genetics  and  includes  formal  genetic  counseling.  Gene  testing  may  be  offered  but  performed  in  the  setting  of  a  cancer  genetic  consultation  which  includes  pretest  and  posttest  counseling.  If  a  family-specific  mutation  is  found,  the  genetics  consultant  can  offer  mutation-specific  predictive  testing  to  relatives.  A  list  of  endocrine  neoplasia  syndromes  and  their  genetic  causes  is  provided  in  Table  537-1.  Disease  associations  in  the  multiple  endocrine  neoplasia  syndromes  are  shown  in  Table  537-2.  In  this  chapter  we  will  discuss  only  the  MEN  conditions  and  the  related  Carney  complex.  Pheochromocytoma  is  also  discussed  as  an  endocrine  tumor  common  in  a  number  of  endocrine  neoplasia  syndromes.