RT Book, Section
A1 Quintos, Jose Bernardo
A1 Boney, Charlotte M.
A2 Stevenson, David K.
A2 Cohen, Ronald S.
A2 Sunshine, Philip
SR Print(0)
ID 1109795473
T1 Congenital Adrenal Hyperplasia
T2 Neonatology: Clinical Practice and Procedures
YR 2015
FD 2015
PB McGraw-Hill Education
PP New York, NY
SN 9780071763769
LK accesspediatrics.mhmedical.com/content.aspx?aid=1109795473
RD 2024/04/16
AB Congenital  adrenal  hyperplasia  (CAH)  is  a  family  of  inherited,  autosomal  recessive  disorders  of  adrenal  steroidogenesis  due  to  an  abnormality  in  a  step  necessary  for  conversion  of  cholesterol  to  cortisol  in  the  adrenal  cortex  (Figure  46-1).  Of  all  CAH  cases,  95%  are  caused  by  21-hydroxylase  deficiency.  There  are  2  forms  of  21-hydroxylase  deficiency:  classic  and  nonclassic  CAH  (also  called  late-onset  CAH).  Classic  CAH  comprises  the  salt-wasting  form  (cortisol  deficiency  and  aldosterone  deficiency)  and  simple  virilizing  form.  The  salt-wasting  form  comprises  75%  and  simple  virilizing  form  25%  of  patients  with  21-hydroxylase  deficiency.  The  classic  form  is  associated  with  severe  enzyme  deficiency,  leading  to  prenatal  virilization  in  girls;  the  nonclassic  form  has  mild  enzyme  deficiency  that  causes  postnatal  hyperandrogenism  but  no  prenatal  virilization.