Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations.

doi:10.1515/CCLM.2010.239

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Article

Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations.

Clinical chemistry and laboratory medicine - 1 Aug 2010

Concolino Paola, Mello Enrica, Zuppi Cecilia, Capoluongo Ettore

Abstract excerpt

Steroid 21-hydroxylase deficiency is present in more than 90% of patients with congenital adrenal hyperplasia, an inherited metabolic disorder of adrenal steroidogenesis. Impaired enzymatic activity leads to the accumulation of metabolic intermediates (progesterone and 17-hydroxyprogesterone), wh...

Topics

Adrenal Hyperplasia, Congenital
Genetic Loci
Humans
Mutation
Pathology, Molecular
Steroid 21-Hydroxylase

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