ea0015p318 | Steroids | SFEBES2008
Dhir Vivek
, Bleicken Caroline
, Loidi Lourdes
, Parajes Silvia
, Quinteiro Celse
, Dominguez Fernando
, Grotzinger Joachim
, Sippell Wolfgang
, Riepe Felix
, Arlt Wiebke
, Krone Nils
Congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase (CYP21A2) deficiency is the commonest inborn error in steroid hormone biosynthesis and the most frequent cause of congenital adrenal hyperplasia. The classic forms of 21-hydroxylase deficiency, salt-wasting (SW) and simple virilising (SV), usually present in the neonatal period with some simple virilising patients presenting later in childhood with precocious pseudopuberty. The non-classic form (NCCAH) mostly m...