RT Book, Section
A1 Fallat, Mary E.
A1 Chun, Jeannie
A2 Ziegler, Moritz M.
A2 Azizkhan, Richard G.
A2 Allmen, Daniel von
A2 Weber, Thomas R.
SR Print(0)
ID 1100437178
T1 Disorders of Sexual Differentiation
T2 Operative Pediatric Surgery, 2e
YR 2014
FD 2014
PB McGraw-Hill Education
PP New York, NY
SN 978-0-07-162723-8
LK accesssurgery.mhmedical.com/content.aspx?aid=1100437178
RD 2024/04/24
AB The  infant  born  with  the  greatest  discordance  between  genetic  sex  and  phenotypic  appearance  is  at  most  risk  for  psychological  consequences  as  a  result  of  confusion  of  gender  identity.Congenital  adrenal  hyperplasia  (CAH)  or  the  adrenogenital  syndrome  due  to  excessive  endogenous  androgen  production  in  genetic  females  is  the  main  cause  of  masculinization  of  the  external  genitalia  in  46XX  individuals.Mutations  of  variable  type  and  severity  in  the  AR  gene  result  in  a  spectrum  of  forms  of  the  androgen  insensitivity  syndrome  (AIS),  the  most  common  cause  of  a  male  DSD.An  abnormality  of  the  sex  chromosomes  usually  results  in  failed,  incomplete,  or  asymmetric  gonadal  differentiation.Female  and  male  DSD  disorders  (DSDs)  have  symmetric  gonads,  and  ovotesticular  DSDs  or  children  with  mixed  gonadal  dysgenesis  have  asymmetric  gonads.Female  children  with  DSD  and  most  children  with  ovotesticular  DSD  are  chromatin  positive  and  lack  a  fluorescent  Y.  A  fluorescent  Y  chromosome  is  found  in  children  with  male  DSD  and  mixed  gonadal  dysgenesis.