RT Book, Section
A1 Lodish, Maya B.
A1 Stratakis, Constantine A.
A2 Kline, Mark W.
SR Print(0)
ID 1182920284
T1 Endocrine Neoplasia Syndromes
T2 Rudolph's Pediatrics, 23e
YR 2018
FD 2018
PB McGraw-Hill Education
PP New York, NY
SN 9781259588594
LK accesspediatrics.mhmedical.com/content.aspx?aid=1182920284
RD 2024/04/23
AB Most  endocrine  tumors  in  children  occur  in  the  context  of  genetic  conditions  predisposing  to  multiple  neoplasias.  Therefore,  it  is  essential  that  the  evaluation  and  management  of  these  patients  involve  experts  in  cancer  genetics  and  include  formal  genetic  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  530-1.  Disease  associations  in  the  multiple  endocrine  neoplasia  syndromes  are  shown  in  Table  530-2.  In  this  chapter,  we  will  discuss  only  the  multiple  endocrine  neoplasia  (MEN)  conditions  and  the  related  Carney  complex,  all  of  which  are  autosomal  dominant  disorders  in  which  specific  endocrine  glands  and  other  organs  develop  hyperplasia  or  neoplasia.  Although  more  often  seen  in  adults,  these  conditions  may  present  in  childhood.  Pheochromocytoma  is  also  discussed  as  an  endocrine  tumor  common  in  a  number  of  endocrine  neoplasia  syndromes.  It  is  extremely  important  to  diagnose  these  genetic  conditions  during  childhood  in  order  to  provide  periodic  screening  for  the  development  of  neoplasia  and  to  offer  timely  prophylactic  surgery.