Expert Reviews in Molecular Medicine: http://www.expertreviews.org/
DOI: 10.1017/S1462399407000300; 30 April 2007
João Gonçalves, Ana Friães and Luís Moura (2007) Congenital adrenal hyperplasia: focus on the molecular basis of 21-hydroxylase deficiency. Expert Rev. Mol. Med. Vol. 9, Issue 11, DOI: 10.1017/S1462399407000300

Congenital adrenal hyperplasia: focus on the molecular basis of 21-hydroxylase deficiency

João Gonçalves ^{a1 c1}, Ana Friães ^a2 and Luís Moura ^a3

^a1 Centro de Genética Humana, Instituto Nacional de Saúde Dr. Ricardo Jorge, Lisboa, Portugal.

^a2 Previous address: Centro de Genética Humana, Instituto Nacional de Saúde Dr. Ricardo Jorge, Lisboa, Portugal. Current address: Instituto de Microbiologia, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal.

^a3 Hospital Pediátrico de Coimbra, Unidade de Endocrinologia Pediátrica, Coimbra, Portugal.

^c1 Corresponding author: João Gonçalves, Sector da Patologia do Desenvolvimento Sexual, Centro de Genética Humana, Instituto Nacional de Saúde Dr. Ricardo Jorge, Av. Padre Cruz, 1649-016 Lisboa, Portugal. Tel: +351 217519320; Fax: +351 217526410; E-mail: joao.goncalves@insa.min-saude.pt

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by defects in one of several steroidogenic enzymes involved in the synthesis of cortisol from cholesterol in the adrenal glands. More than 90% of cases are caused by 21-hydroxylase deficiency, and the severity of the resulting clinical symptoms varies according to the level of 21-hydroxylase activity. 21-Hydroxylase deficiency is usually caused by mutations in the CYP21A2 gene, which is located on the RCCX module, a chromosomal region highly prone to genetic recombination events that can result in a wide variety of complex rearrangements, such as gene duplications, gross deletions and gene conversions of variable extensions. Molecular genotyping of CYP21A2 and the RCCX module has proved useful for a more accurate diagnosis of the disease, and prenatal diagnosis. This article summarises the clinical features of 21-hydroxylase deficiency, explains current understanding of the disease at the molecular level, and highlights recent developments, particularly in diagnosis.

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