hrp0084p1-6 | Adrenal | ESPE2015
Boulez Florence Roucher
, Motak Delphine Mallet
, Guerrin Elsensohn Mad-Helenie
, Bardel Claire
, Roy Pascal
, Morel Yves
Background: Congenital primary adrenal insufficiency (PAI) can occur as three types: isolated glucocorticoid or mineralocorticoid deficiency, or global adrenal insufficiency, with combined mineralo and glucocorticoid deficiency. Once the most frequent genes (CYP21A2, ABCD1…) have been discarded by biological tests, many other genes may be involved in each type, and one gene may be responsible of different types. Consequently, there is no real decision tree in th...