Article
Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India.
The Indian journal of medical research - 1 Feb 2017
Dubey Sudhisha, Tardy Veronique, Chowdhury Madhumita Roy, Gupta Neerja, Jain Vandana, Deka Deepika, Sharma Pankaj, Morel Yves, Kabra Madhulika
Abstract excerpt
BACKGROUND & OBJECTIVES: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with a wide range of clinical manifestations. The disease is attributed to mutations in CYP21A2 gene encoding 21-hydroxylase enzyme. In view of severe phenotype in salt-losing cases, issues related to genital ambiguity in girls and precocity in boys, most families opt for prenatal testing and termination of affected...
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