RT Book, Section
A1 Miller, Walter L.
A2 Kline, Mark W.
SR Print(0)
ID 1182919880
T1 Genetic Lesions in Steroidogenesis
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=1182919880
RD 2024/04/20
AB As  most  steroidogenic  enzymes  are  expressed  in  the  adrenal,  their  disorders  tend  to  be  lumped  under  the  term  congenital  adrenal  hyperplasia  (CAH),  but  most  disorders  of  adrenal  steroidogenesis  are  not  characterized  by  adrenal  hyperplasia,  and,  when  present,  adrenal  enlargement  is  rarely  a  diagnostic  point.  One  form  of  CAH,  21-hydroxylase  deficiency  (21OHD),  accounts  for  >  90%  of  cases  and  is  found  in  all  ethnic  groups;  the  other  disorders  are  rare  and  tend  to  be  found  in  isolated  genetic  clusters.  Manifestations  of  a  deficiency  of  each  enzyme  in  the  pathway,  including  the  clinical  presentation,  laboratory  findings,  and  therapeutic  measures,  are  shown  in  Table  526-1.  Because  each  steroidogenic  enzyme  has  multiple  activities  and  many  extra-adrenal  tissues  contain  enzymes  that  have  similar  activities,  the  complete  elimination  of  a  specific  adrenal  enzyme  may  not  result  in  the  complete  elimination  of  its  steroidal  products  from  the  circulation.