" /> Androgen insensitivity, partial - CISMeF





Preferred Label : Androgen insensitivity, partial;

Symbol : PAIS;

CISMeF acronym : PAIS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Familial incomplete male pseudohermaphroditism, type 1; Reifenstein syndrome; Androgen insensitivity, partial, with or without breast cancer;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the androgen receptor gene (AR, 313700.0008);

Laboratory abnormalities : Normal 46,XY karyotype; Oligospermia or azoospermia;

Prefixed ID : #312300;

Détails


Vous pouvez consulter :


Nous contacter.
30/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.