Article
Testicular adrenal rest tumours in boys, adolescents and adult men with congenital adrenal hyperplasia may be associated with the CYP21A2 mutation.
International journal of andrology - 1 Jun 2010
Mouritsen Annette, Jørgensen Niels, Main Katharina M, Schwartz Marianne, Juul Anders
Abstract excerpt
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with impaired function of the adrenal cortex caused by mutations in the CYP21A2 gene. Deficiency of steroid 21-hydroxylase accounts for 80-95% of CAH cases. Testicular adrenal rest tumours (TART) may be prevalent in up to 95% of CAH adults and may already appear during childhood. Whether genotype sub-types can account for the development of...
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