TY  - CHAP
M1  - Book, Section
TI  - SRY and Primary Sex-Reversal Syndromes
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.
Y1  - 2019
N1  - 10.1036/ommbid.372
T2  - The Online Metabolic and Molecular Bases of Inherited Disease
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.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
M3  - doi: 10.1036/ommbid.372
Y2  - 2024/10/10
UR  - ommbid.mhmedical.com/content.aspx?aid=1181418497
ER  -