Article
Impact of estrogen replacement therapy in a male with congenital aromatase deficiency caused by a novel mutation in the CYP19 gene.
The Journal of clinical endocrinology and metabolism - 1 Dec 2002
Herrmann Burkhard Lorenz, Saller Bernhard, Janssen Onno Eilard, Gocke Peter, Bockisch Andreas, Sperling Herbert, Mann Klaus, Broecker Martina
Abstract excerpt
Recent reports of the impact of estrogen receptor alpha and aromatase deficiency have shed new light on the importance of estrogen for bone formation in man. We describe a novel mutation of the CYP19 gene in a 27-yr-old homozygous male of consanguinous parents. A C to A substitution in intron V, at position -3 of the splicing acceptor site before exon VI of the CYP19 gene, is the likely cause of loss of aromatase...
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