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ea0015p318 | Steroids | SFEBES2008

Functional and structural characterisation of three CYP21A2 mutations associated with simple virilising and non classic congenital adrenal hyperplasia

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...

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Endocrine Abstracts

Functional and structural characterisation of three CYP21A2 mutations associated with simple virilising and non classic congenital adrenal hyperplasia

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