Mutations in the synthesis and action of estrogen: the critical role in the male of estrogen on pubertal growth, skeletal maturation, and bone mass.

The discovery of males with mutations in CYP19, the gene that encodes aromatase, the enzyme catalyzing the final step in the conversion of androgen to estrogen, and of a man with a mutation in the estrogen receptor alpha gene has led to increasing recognition of the critical role of estrogen in the male. The diverse roles of estrogen in the male, both circulating and locally synthesized, is supported by extensive studies in male mice generated with disruption of the aromatase gene or the genes encoding the alpha- and beta-estrogen receptor. This presentation focuses on the crucial role of estradiol in the human male on the pubertal growth spurt, skeletal maturation and the cessation of linear growth, and the accrual of bone mass.