Structural aspects of the p.P222Q homozygous mutation of HSD3B2 gene in a patient with congenital adrenal hyperplasia.

@article{Lusa2010StructuralAO,
  title={Structural aspects of the p.P222Q homozygous mutation of HSD3B2 gene in a patient with congenital adrenal hyperplasia.},
  author={Let{\'i}cia Gori Lusa and Sofia Helena Valente Lemos-Marini and Fernanda Caroline Soardi and L{\'u}cio F{\'a}bio Caldas Ferraz and Gil Guerra-J{\'u}nior and Maricilda Palandi de Mello},
  journal={Arquivos brasileiros de endocrinologia e metabologia},
  year={2010},
  volume={54 8},
  pages={768-74}
}
Type II 3β-hydroxysteroid dehydrogenase/Δ(5)-Δ(4)-isomerase (3β-HSD2), encoded by the HSD3B2 gene, is a key enzyme involved in the biosynthesis of all the classes of steroid hormones. Deleterious mutations in the HSD3B2 gene cause the classical deficiency of 3β-HSD2, which is a rare autosomal recessive disease that leads to congenital adrenal hyperplasia (CAH). CAH is the most frequent cause of ambiguous genitalia and adrenal insufficiency in newborn infants with variable degrees of salt losing… CONTINUE READING

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