RT Book, Section
A1 Goodfellow, Peter N.
A1 Ferguson-Smith, Malcolm A.
A1 Ross Hawkins, J.
A1 Camerino, Giovanna
A2 Valle, David L.
A2 Antonarakis, Stylianos
A2 Ballabio, Andrea
A2 Beaudet, Arthur L.
A2 Mitchell, Grant A.
SR Print(0)
ID 1181418497
T1 SRY and Primary Sex-Reversal Syndromes
T2 The Online Metabolic and Molecular Bases of Inherited Disease
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9780071459969
LK ommbid.mhmedical.com/content.aspx?aid=1181418497
RD 2024/10/16
AB Male  differentiation  in  humans  is  determined  by  the  testis-determining  gene,  SRY,  which  is  located  on  the  short  arm  of  the  Y  chromosome  adjacent  to  the  pseudoautosomal  region.Cytogenetic  studies  of  infertile  males  have  revealed  rare  individuals  with  an  apparently  normal  46,XX  karyotype.  The  majority  of  these  sex-reversed  XX  males  have  inherited  a  small  fragment  of  the  Y  chromosome,  which  includes  SRY,  transferred  to  the  short  arm  of  one  of  their  X  chromosomes.SRY  mutations  are  found  in  15  percent  of  XY  females  with  pure  gonadal  dysgenesis.SRY  induces  the  differentiation  of  Sertoli  cells  in  the  developing  gonad.  Sertoli  cells  produce  anti-Mullerian  hormone,  which  causes  regression  of  the  female  internal  genitalia;  they  also  induce  Leydig  cells  to  secrete  the  androgens  necessary  for  the  development  of  male  internal  and  external  genitalia.  Any  genetic  or  environmental  factor  that  prevents  testis  differentiation  in  46,XY  embryos  leads  to  the  development  of  a  sex-reversed  XY  female.This  chapter  reviews  the  role  of  SRY  in  primary  sex-reversal  syndromes.