Aromatase deficiency caused by a novel P450arom gene mutation : Impact of absent estrogen production on serum gonadotropin concentration in a boy

We identified a new point mutation in the CYP19 gene responsible for aromatase (P450arom) deficiency in a 46,XY male infant with unremarkable clinical findings at birth. This boy is homozygote for a 1-bp (C) deletion in exon 5 of the aromatase gene causing a frame-shift mutation. The frame-shift res...

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