[Molecular biology of the persistent Müllerian duct syndrome].
The persistent Müllerian duct syndrome, characterized by the presence of uterus and tubes in otherwise normally masculinized 46,XY males, is a familial autosomal recessive disorder due to defects of synthesis or action of anti-Müllerian hormone. We have performed molecular studies in a total of 38 families and we have identified the basis of the condition, namely 16 anti-Müllerian hormone and 16 anti-Müllerian hormone receptor mutations, in 32 families.
Imbeaud
S
S
Unité de Recherches sur l'Endocrinologie du Développement (INSERM), Ecole Normale Supérieure, Département de Biologie, Montrouge.
Josso
N
N
Belville
C
C
Messika-Zeitoun
L
L
Rey
R
R
Picard
J Y
JY
D054304:Anti-Mullerian Hormone; D012734:Disorders of Sex Development / Q000175:diagnosis / Q000235:genetics*; D006023:Glycoproteins; D006131:Growth Inhibitors / Q000172:deficiency / Q000235:genetics; D006801:Humans; D009095:Mullerian Ducts / Q000002:abnormalities*; D009154:Mutation; D011956:Receptors, Cell Surface / Q000235:genetics; D013577:Syndrome; D013735:Testicular Hormones / Q000172:deficiency / Q000235:genetics
D006023:Glycoproteins; D006131:Growth Inhibitors; D011956:Receptors, Cell Surface; D013735:Testicular Hormones; D054304:Anti-Mullerian Hormone