RT Book, Section
A1 Appachi, Elumalai
A2 Usatine, Richard P.
A2 Sabella, Camille
A2 Smith, Mindy Ann
A2 Mayeaux, E.J.
A2 Chumley, Heidi S.
A2 Appachi, Elumalai
SR Print(0)
ID 1114879471
T1 Congenital Adrenal Hyperplasia
T2 The Color Atlas of Pediatrics
YR 2015
FD 2015
PB McGraw-Hill Education
PP New York, NY
SN 978-0-07-176701-9
LK accesspediatrics.mhmedical.com/content.aspx?aid=1114879471
RD 2024/04/25
AB A  3400-gram  infant  is  being  evaluated  by  the  pediatrician  after  an  uncomplicated  term  gestation  and  vaginal  delivery.  The  infant  is  noted  to  have  ambiguous  genitalia,  characterized  by  clitoromegaly,  enlarged  labia,  and  no  palpable  testes.  A  single  urethral/vaginal  opening  is  present  (Figure  197-1).  A  diagnosis  of  congenital  adrenal  hyperplasia  is  suspected  based  on  these  findings.  A  pediatric  endocrinologist  is  consulted,  who  orders  a  serum  17-hydroxyprogesterone  level,  which  is  markedly  elevated,  and  a  rapid  karyotype,  which  reveals  a  46  XX  karyotype,  confirming  the  diagnosis  of  CAH  caused  by  21-hydroxylase  deficiency.  The  infant  is  treated  with  glucocorticoids  and  the  parents  receive  psychosocial  and  genetic  counseling  regarding  the  diagnosis.